Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS.
A desmosomal cadherin that is an autoantigen in the acquired skin disorder PEMPHIGUS VULGARIS.
Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE.
A desmosomal cadherin that is an autoantigen in the acquired skin disorder PEMPHIGUS FOLIACEUS.
A group of desmosomal cadherins with cytoplasmic tails that resemble those of classical CADHERINS.
Visible accumulations of fluid within or beneath the epidermis.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
A type of junction that attaches one cell to its neighbor. One of a number of differentiated regions which occur, for example, where the cytoplasmic membranes of adjacent epithelial cells are closely apposed. It consists of a circular region of each membrane together with associated intracellular microfilaments and an intercellular material which may include, for example, mucopolysaccharides. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990; Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A form of fluorescent antibody technique utilizing a fluorochrome conjugated to an antibody, which is added directly to a tissue or cell suspension for the detection of a specific antigen. (Bennington, Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)
A family of related proteins that associate with cytoskeletal elements and junctional complexes at INTERCELLULAR JUNCTIONS. Plakins share a common plakin domain or a plakin repeat domain.
A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis.
An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.
Epidermal cells which synthesize keratin and undergo characteristic changes as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.
The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.
Endogenous tissue constituents that have the ability to interact with AUTOANTIBODIES and cause an immune response.
The external, nonvascular layer of the skin. It is made up, from within outward, of five layers of EPITHELIUM: (1) basal layer (stratum basale epidermidis); (2) spinous layer (stratum spinosum epidermidis); (3) granular layer (stratum granulosum epidermidis); (4) clear layer (stratum lucidum epidermidis); and (5) horny layer (stratum corneum epidermidis).
'Mouth diseases' is a broad term referring to various conditions that cause inflammation, infection, or structural changes in any part of the mouth, including the lips, gums, tongue, palate, cheeks, and teeth, which can lead to symptoms such as pain, discomfort, difficulty in chewing or speaking, and altered aesthetics.
Calcium-dependent cell adhesion proteins. They are important in the formation of ADHERENS JUNCTIONS between cells. Cadherins are classified by their distinct immunological and tissue specificities, either by letters (E- for epithelial, N- for neural, and P- for placental cadherins) or by numbers (cadherin-12 or N-cadherin 2 for brain-cadherin). Cadherins promote cell adhesion via a homophilic mechanism as in the construction of tissues and of the whole animal body.
Desmoplakins are cytoskeletal linker proteins that anchor INTERMEDIATE FILAMENTS to the PLASMA MEMBRANE at DESMOSOMES.
A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842)
Administration of high doses of pharmaceuticals over short periods of time.
A CALCIUM-dependent adhesion molecule of DESMOSOMES that also plays a role in embryonic STEM CELL proliferation.
A group of desmosomal cadherins with cytoplasmic tails that are divergent from those of classical CADHERINS. Their intracytoplasmic domains bind PLAKOGLOBIN; PLAKOPHILINS; and DESMOPLAKINS.

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. (1/36)

Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Previous genetic linkage studies localized the gene to a 5 cM interval on human chromosome 3q21. After reducing the disease critical region to <1 cM, we used a positional cloning strategy to identify the gene ATP2C1, which is mutated in HHD. ATP2C1 encodes a new class of P-type Ca(2+)-transport ATPase, which is the homologue for the rat SPLA and the yeast PMR1 medial Golgi Ca(2+)pumps and is related to the sarco(endo)plasmic calcium ATPase (SERCA) and plasma membrane calcium ATPase (PCMA) families of Ca(2+)pumps. The predicted protein has the same apparent transmembrane organization and contains all of the conserved domains present in other P-type ATPases. ATP2C1 produces two alternative splice variants of approximately 4.5 kb encoding predicted proteins of 903 and 923 amino acids. We identified 13 different mutations, including nonsense, frameshift insertion and deletions, splice-site mutations, and non-conservative missense mutations. This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier's disease, provide further evidence of the critical role of Ca(2+)signaling in maintaining epidermal integrity.  (+info)

A case of generalized Hailey-Hailey disease with fatal liver injury. (2/36)

We report a case of a 59-year-old man with a severe generalized form of Hailey-Hailey disease that was complicated by fatal liver injury. Erosive lesions were first noted in the axillary and perianal regions at 15 year of age, and Hailey-Hailey disease was diagnosed based on the clinical features and histologic findings in skin biopsy specimens. The patient was treated with at first topical steroids and later a low dose of a corticosteroid, but the skin lesions gradually became generalized. At 45 years of age liver dysfunction was detected after azathioprine and vinblastine treatment for the generalized skin lesions. The liver injury gradually progressed and finally the patient died. The gene responsible for Hailey-Hailey disease was recently identified as ATP2C1, and it encodes a Ca(2+)-transport ATPase with broad expression, including in skin and liver. This finding suggests that mutation of the ATP2C1 gene may give rise to an extracutaneous phenotype, such as the liver dysfunction observed in severe cases, including our own. Further accumulation of cases is necessary to determine whether this is true.  (+info)

Clinical analysis of 69 patients with familial benign chronic pemphigus. (3/36)

OBJECTIVE: To analyze the clinical feature, efficacy of treatment and prognosis in familial benign chronic pemphigus (FBCP). METHODS: Sixty-nine cases of FBCP were retrospectively analyzed. RESULTS: The ratio of male to female is 3.93:1 in 69 patients (55 males, 14 females). The mean age at the onset was 29.09 years (3-60 years). There was familial history in 27 families in all of the cases. The lesion usually involved in genital area, neck, axillae and popliteal fossa. Erythemas and vesicles on the soles were seen only in 1 case. Histopathologically 44 cases had special features of FBCP, and immunopathologically 8 cases were direct immunofluorescence (DIF) negative, in which one case had C3 linear deposition along dermoepidermal junction. The combined regimen was more effective. The low-dose X-ray could improve the effect. CONCLUSION: The disease is transmitted as an irregular autosomal dominant trait. The condition in males is more frequent than that in females, probably owing to the different level of female hormone in both sexes. Our patients have the same clinical features as those reported in the literature, but the erythema, vesicle lesions on sole have not been documented in the literature. The combined therapy should be adopted in this condition.  (+info)

Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease. (4/36)

The discovery and biochemical characterization of the secretory pathway Ca(2+)-ATPase, PMR1, in Saccharomyces cerevisiae, has paved the way for identification of PMR1 homologues in many species including rat, Caenorhabditis elegans, and Homo sapiens. In yeast, PMR1 has been shown to function as a high affinity Ca(2+)/Mn(2+) pump and has been localized to the Golgi compartment where it is important for protein sorting, processing, and glycosylation. However, little is known about PMR1 homologues in higher organisms. Loss of one functional allele of the human gene, hSPCA1, has been linked to Hailey-Hailey disease, characterized by skin ulceration and improper keratinocyte adhesion. We demonstrate that expression of hSPCA1 in yeast fully complements pmr1 phenotypes of hypersensitivity to Ca(2+) chelators and Mn(2+) toxicity. Similar to PMR1, epitope-tagged hSPCA1 also resides in the Golgi when expressed in yeast or in chinese hamster ovary cells. (45)Ca(2+) transport by hSPCA1 into isolated yeast Golgi vesicles shows an apparent Ca(2+) affinity of 0.26 microm, is inhibitable by Mn(2+), but is thapsigargin-insensitive. In contrast, heterologous expression of vertebrate sarcoplasmic reticulum and plasma membrane Ca(2+)-ATPases in yeast complement the Ca(2+)- but not Mn(2+)-related phenotypes of the pmr1-null strain, suggesting that high affinity Mn(2+) transport is a unique feature of the secretory pathway Ca(2+)-ATPases.  (+info)

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. (5/36)

Hailey-Hailey disease is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Mutations in ATP2C1, the gene encoding a novel, P-type Ca2+-transport ATPase, were recently found to cause Hailey-Hailey disease. In this study, we used conformation-sensitive gel electrophoresis to screen all 28 translated exons of ATP2C1 in 24 Hailey-Hailey disease families and three sporadic cases with the disorder. We identified 22 different mutations, 18 of which have not previously been reported, in 25 probands. The novel mutations comprise three nonsense, six insertion/deletion, three splice-site, and six missense mutations and are distributed throughout the ATP2C1 gene. Six mutations were found in multiple families investigated here or in our previous study. Haplotype analysis revealed that two of these are recurrent mutations that have not been inherited from a common ancestor. Comparison between genotype and phenotype in 23 families failed to yield any clear correlation between the nature of the mutation and clinical features of Hailey-Hailey disease. The extensive interfamilial and intrafamilial phenotypic variability observed suggests that modifying genes and/or environmental factors may greatly influence the clinical features of this disease.  (+info)

Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. (6/36)

We report herein mutations of ATP2C1 in 11 Japanese patients with Hailey-Hailey disease gene (including five previously reported) and compare the mutation pattern with clinical phenotypes. Patients with missense mutations and some of those with mutations causing premature termination showed erythema and erosions primarily at intertriginous areas. In two families with unique mutations, one with an in-frame three amino acid deletion plus an eight amino acid insertion and one with a two base pair deletion predicted to cause premature truncation, some affected individuals had unique clinical features -- generalization of Hailey-Hailey disease and generalized skin eruption resembling keratotic papules in Darier's disease -- but other affected individuals did not, suggesting the presence of severe intrafamilial phenotype variations. Our findings suggest that differences in clinical phenotypes are probably related to factors other than the type of causative mutation.  (+info)

Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). (7/36)

ATP2C1, encoding the human secretory pathway Ca2+/Mn2+ ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey Disease (HHD), an autosomal dominant skin disorder characterized by persistent blisters and erosions. To investigate the underlying cause of HHD, we have analyzed the changes in expression level and function of hSPCA1 caused by mutations found in HHD patients. Mutations were introduced into hSPCA1d, a novel splice variant expressed in keratinocytes, described here for the first time. Encoded by the full-length of optional exons 27 and 28, hSPCA1d was longer than previously identified splice variants. The protein competitively transported Ca2+ and Mn2+ with equally high affinity into the Golgi of COS-1 cells. Ca2+- and Mn2+-dependent phosphoenzyme intermediate formation in forward (ATP-fuelled) and reverse (Pi-fuelled) directions was also demonstrated. HHD mutant proteins L341P, C344Y, C411R, T570I, and G789R showed low levels of expression, despite normal levels of mRNA and correct targeting to the Golgi, suggesting instability or abnormal folding of the mutated hSPCA1 polypeptides. P201L had little effect on the enzymatic cycle, whereas I580V caused a block in the E1 approximately P --> E2-P conformational transition. D742Y and G309C were devoid of Ca2+- and Mn2+-dependent phosphoenzyme formation from ATP. The capacity to phosphorylate from Pi was retained in these mutants but with a loss of sensitivity to both Ca2+ and Mn2+ in D742Y and a preferential loss of sensitivity to Mn2+ in G309C. These results highlight the crucial role played by Asp-742 in the architecture of the hSPCA1 ion-binding site and reveal a role for Gly-309 in Mn2+ transport selectivity.  (+info)

Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes. (8/36)

Actin reorganization and the formation of adherens junctions are necessary for normal cell-to-cell adhesion in keratinocytes. Hailey-Hailey disease (HHD) is blistering skin disease, resulting from mutations in the Ca2+ ATPase ATP2C1, which controls Ca2+ concentrations in the cytoplasm and Golgi of human keratinocytes. Because actin reorganization is among the first responses to raised cytoplasmic Ca2+, we examined Ca2+-induced actin reorganization in normal and HHD keratinocytes. Even though HHD keratinocytes display raised baseline cytoplasmic Ca2+, we found that actin reorganization in response to Ca2+ was impaired in HHD keratinocytes. Defects in actin reorganization were linked to a marked decrease in cellular ATP in HHD keratinocytes, which persists, in vivo, in HHD epidermis. Defective actin reorganization was reproduced in normal keratinocytes in which the intracellular ATP concentration had been lowered pharmacologically. ATP concentrations in undifferentiated keratinocytes markedly declined after extracellular Ca2+ was increased, but then recovered to a new baseline that was approximately 150% of the previous baseline. In contrast, ATP concentrations in HHD keratinocytes did not change in response to increased extracellular Ca2+. This report provides new insights into how the ATP2C1-controlled ATP metabolism mediates Ca2+-induced cell-to-cell adhesion in normal keratinocytes. In addition, these findings implicate inadequate ATP stores as an additional cause in the pathogenesis of HHD and suggest novel therapeutic options.  (+info)

Pemphigus is a group of rare, autoimmune blistering diseases that affect the skin and mucous membranes. In these conditions, the immune system mistakenly produces antibodies against desmoglein proteins, which are crucial for maintaining cell-to-cell adhesion in the epidermis (outermost layer of the skin). This results in the loss of keratinocyte cohesion and formation of flaccid blisters filled with serous fluid.

There are several types of pemphigus, including:

1. Pemphigus vulgaris - The most common form, primarily affecting middle-aged to older adults, with widespread erosions and flaccid blisters on the skin and mucous membranes (e.g., mouth, nose, genitals).
2. Pemphigus foliaceus - A more superficial form, mainly involving the skin, causing crusted erosions and scaly lesions without mucosal involvement. It is more prevalent in older individuals and in certain geographical regions like the Middle East.
3. Paraneoplastic pemphigus - A rare type associated with underlying neoplasms (cancers), such as lymphomas or carcinomas, characterized by severe widespread blistering of both skin and mucous membranes, along with antibodies against additional antigens besides desmogleins.
4. IgA pemphigus - A less common form characterized by localized or generalized erosions and blisters, with IgA autoantibodies targeting the basement membrane zone.

Treatment for pemphigus typically involves high-dose systemic corticosteroids, often in combination with immunosuppressive agents (e.g., azathioprine, mycophenolate mofetil, rituximab) to control the disease activity and prevent complications. Regular follow-ups with dermatologists and oral specialists are essential for monitoring treatment response and managing potential side effects.

Desmoglein 3 is a type of desmoglein protein that is primarily found in the upper layers of the epidermis, specifically in the desmosomes of the skin. Desmogleins are part of the cadherin family of cell adhesion molecules and play a crucial role in maintaining the structural integrity and cohesion of tissues, particularly in areas subjected to mechanical stress.

Desmoglein 3 is essential for the formation and maintenance of desmosomal junctions in stratified squamous epithelia, such as the skin and mucous membranes. It is involved in cell-to-cell adhesion by forming calcium-dependent homophilic interactions with other Desmoglein 3 molecules on adjacent cells.

Mutations in the gene encoding Desmoglein 3 have been associated with several skin disorders, including pemphigus vulgaris, a severe autoimmune blistering disease that affects the mucous membranes and skin. In pemphigus vulgaris, autoantibodies target Desmoglein 3 (and sometimes Desmoglein 1) molecules, leading to loss of cell-to-cell adhesion and formation of blisters and erosions.

Acantholysis is a medical term that refers to the separation of the cells in the upper layer of the skin (the epidermis), specifically between the pickle cell layer (stratum spinosum) and the granular cell layer (stratum granulosum). This separation results in the formation of distinct, round, or oval cells called acantholytic cells, which are typically seen in certain skin conditions.

Acantholysis is a characteristic feature of several skin disorders, including:

1. Pemphigus vulgaris: A rare autoimmune blistering disorder where the immune system produces antibodies against desmoglein-1 and -3 proteins, leading to acantholysis and formation of flaccid blisters.
2. Pemphigus foliaceus: Another autoimmune blistering disorder that specifically targets desmoglein-1 protein, causing superficial blisters and erosions on the skin.
3. Hailey-Hailey disease (familial benign chronic pemphigus): An autosomal dominant genetic disorder affecting ATP2C1 gene, leading to defective calcium transport and abnormal keratinocyte adhesion, resulting in acantholysis and recurrent skin eruptions.
4. Darier's disease (keratosis follicularis): An autosomal dominant genetic disorder affecting ATP2A2 gene, causing dysfunction of calcium transport and abnormal keratinocyte adhesion, resulting in acantholysis and characteristic papular or keratotic skin lesions.
5. Grover's disease (transient acantholytic dermatosis): An acquired skin disorder of unknown cause, characterized by the development of pruritic, red, and scaly papules and vesicles due to acantholysis.

The presence of acantholysis in these conditions can be confirmed through histopathological examination of skin biopsies.

Desmoglein 1 is a type of desmosomal cadherin, which is a transmembrane protein involved in cell-to-cell adhesion. It is primarily expressed in the upper layers of the epidermis and plays a crucial role in maintaining the integrity and stability of the skin. Desmoglein 1 forms desmosomes, specialized intercellular junctions that connect adjacent keratinocytes and help to resist shearing forces.

Desmoglein 1 is also a target for autoantibodies in certain blistering diseases, such as pemphigus foliaceus, where the binding of these antibodies to desmoglein 1 results in the loss of cell-to-cell adhesion and formation of skin blisters.

Desmogleins are a group of proteins that are part of the desmosomes, which are structures that help to strengthen and maintain the integrity of epithelial tissues. Desmogleins play a crucial role in cell-to-cell adhesion by forming intercellular junctions known as desmoglein adherens junctions. These junctions help to anchor intermediate filaments, such as keratin, to the plasma membrane and provide structural support to epithelial cells.

There are four main types of desmogleins (Dsg1-4), each with distinct expression patterns in different tissues. For example, Dsg1 is primarily expressed in the upper layers of the epidermis, while Dsg3 is found in the lower layers and in mucous membranes. Mutations in desmoglein genes have been associated with several skin disorders, including pemphigus vulgaris and pemphigus foliaceus, which are autoimmune blistering diseases characterized by the loss of cell-to-cell adhesion in the epidermis.

A blister is a small fluid-filled bubble that forms on the skin due to friction, burns, or contact with certain chemicals or irritants. Blisters are typically filled with a clear fluid called serum, which is a component of blood. They can also be filled with blood (known as blood blisters) if the blister is caused by a more severe injury.

Blisters act as a natural protective barrier for the underlying skin and tissues, preventing infection and promoting healing. It's generally recommended to leave blisters intact and avoid breaking them, as doing so can increase the risk of infection and delay healing. If a blister is particularly large or painful, medical attention may be necessary to prevent complications.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

Vesiculobullous skin diseases are a group of disorders characterized by the formation of blisters (vesicles) and bullae (larger blisters) on the skin. These blisters form when there is a separation between the epidermis (outer layer of the skin) and the dermis (layer beneath the epidermis) due to damage in the area where they join, known as the dermo-epidermal junction.

There are several types of vesiculobullous diseases, each with its own specific causes and symptoms. Some of the most common types include:

1. Pemphigus vulgaris: an autoimmune disorder where the immune system mistakenly attacks proteins that help to hold the skin together, causing blisters to form.
2. Bullous pemphigoid: another autoimmune disorder, but in this case, the immune system attacks a different set of proteins, leading to large blisters and inflammation.
3. Dermatitis herpetiformis: a skin condition associated with celiac disease, where gluten ingestion triggers an immune response that leads to the formation of itchy blisters.
4. Pemphigoid gestationis: a rare autoimmune disorder that occurs during pregnancy and causes blisters on the abdomen and other parts of the body.
5. Epidermolysis bullosa: a group of inherited disorders where there is a fragile skin structure, leading to blistering and wound formation after minor trauma or friction.

Treatment for vesiculobullous diseases depends on the specific diagnosis and may include topical or systemic medications, such as corticosteroids, immunosuppressants, or antibiotics, as well as wound care and prevention of infection.

Paraneoplastic syndromes refer to a group of rare disorders that are caused by an abnormal immune system response to a cancerous (malignant) tumor. These syndromes are characterized by symptoms or signs that do not result directly from the growth of the tumor itself, but rather from substances produced by the tumor or the body's immune system in response to the tumor.

Paraneoplastic syndromes can affect various organs and systems in the body, including the nervous system, endocrine system, skin, and joints. Examples of paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome (LEMS), which affects nerve function and causes muscle weakness; cerebellar degeneration, which can cause difficulty with coordination and balance; and dermatomyositis, which is an inflammatory condition that affects the skin and muscles.

Paraneoplastic syndromes can occur in association with a variety of different types of cancer, including lung cancer, breast cancer, ovarian cancer, and lymphoma. Treatment typically involves addressing the underlying cancer, as well as managing the symptoms of the paraneoplastic syndrome.

Desmosomes are specialized intercellular junctions that provide strong adhesion between adjacent epithelial cells and help maintain the structural integrity and stability of tissues. They are composed of several proteins, including desmoplakin, plakoglobin, and cadherins, which form complex structures that anchor intermediate filaments (such as keratin) to the cell membrane. This creates a network of interconnected cells that can withstand mechanical stresses. Desmosomes are particularly abundant in tissues subjected to high levels of tension, such as the skin and heart.

The Fluorescent Antibody Technique (FAT), Direct is a type of immunofluorescence assay used in laboratory diagnostic tests. It is a method for identifying and locating specific antigens in cells or tissues by using fluorescent-labeled antibodies that directly bind to the target antigen.

In this technique, a sample (such as a tissue section or cell smear) is prepared and then treated with a fluorescently labeled primary antibody that specifically binds to the antigen of interest. After washing away unbound antibodies, the sample is examined under a fluorescence microscope. If the antigen is present in the sample, it will be visible as distinct areas of fluorescence, allowing for the direct visualization and localization of the antigen within the cells or tissues.

Direct FAT is commonly used in diagnostic laboratories to identify and diagnose various infectious diseases, including bacterial, viral, and fungal infections. It can also be used to detect specific proteins or antigens in research and clinical settings.

Plakins are a family of proteins that play important roles in maintaining the structure and function of various types of cells, particularly in epithelial tissues. They are large, multidomain proteins that interact with several other cellular components, including the cytoskeleton, cell adhesion molecules, and extracellular matrix proteins.

The name "plakin" comes from the Greek word "plax," which means "plate" or "plaque." This reflects the fact that these proteins help to form and maintain cell-cell and cell-matrix junctions, which are often referred to as "plaques" due to their plate-like appearance.

There are several different types of plakins, including:

1. BP230 (also known as BPAG1-e): This plakin is a component of hemidesmosomes, which are structures that help to anchor epithelial cells to the underlying basement membrane.
2. Plectin: This plakin is a large protein that interacts with several different components of the cytoskeleton, including intermediate filaments, microtubules, and actin filaments. It is found in many different types of cells, including epithelial cells, muscle cells, and neurons.
3. Desmoplakin: This plakin is a component of desmosomes, which are structures that help to anchor adjacent epithelial cells together.
4. Periplakin: This plakin is found in the upper layers of the skin, where it helps to form and maintain cell-cell junctions called corneodesmosomes.
5. Microtubule actin crosslinking factor 1 (MACF1): This plakin interacts with both microtubules and actin filaments, and is involved in regulating the organization and dynamics of these cytoskeletal components.

Mutations in genes encoding plakins have been associated with a variety of human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and blistering.

According to the American Academy of Ophthalmology and the National Organization for Rare Disorders, bullous pemphigoid is an autoimmune blistering disorder characterized by the formation of large, fluid-filled blisters (bullae) on the skin and mucous membranes. This condition primarily affects older adults, with most cases occurring in individuals over 60 years of age.

In bullous pemphigoid, the immune system mistakenly produces antibodies against proteins called BP230 and BP180, which are found in the basement membrane zone – a layer that separates the epidermis (outer skin layer) from the dermis (inner skin layer). This autoimmune response leads to the formation of blisters, causing significant discomfort and potential complications if left untreated.

The symptoms of bullous pemphigoid typically include:

1. Large, fluid-filled blisters on the skin, often appearing on the trunk, arms, or legs. These blisters may be itchy or painful.
2. Blisters that rupture easily, leading to raw, open sores.
3. Mucous membrane involvement, such as blisters in the mouth, nose, eyes, or genital area.
4. Skin redness and irritation.
5. Fluid-filled bumps (papules) or pus-filled bumps (pustules).
6. Scarring and skin discoloration after blisters heal.

Treatment for bullous pemphigoid usually involves a combination of medications to control the immune response, reduce inflammation, and promote healing. These may include corticosteroids, immunosuppressants, or other targeted therapies. In some cases, antibiotics may also be prescribed to help manage secondary infections that can occur due to blister formation.

It is essential to consult with a healthcare professional for an accurate diagnosis and treatment plan if you suspect you have bullous pemphigoid or are experiencing related symptoms.

Benign familial pemphigus is a rare, autosomal dominant blistering disorder that primarily affects the mucous membranes. It is characterized by the presence of flaccid blisters and erosions on the skin and mucous membranes. The lesions are usually painless and heal without scarring.

The condition is caused by mutations in the desmoglein-1 (DSG1) gene, which provides instructions for making a protein called desmoglein 1. This protein is a component of desmosomes, which are structures that help bind cells together. Mutations in the DSG1 gene lead to the production of an abnormal desmoglein 1 protein, which disrupts the formation of desmosomes and causes the cells in the epidermis to separate from each other, resulting in blister formation.

Benign familial pemphigus is typically a milder form of pemphigus and has a good prognosis. Treatment usually involves the use of topical corticosteroids to reduce inflammation and promote healing of the lesions. In severe cases, systemic corticosteroids or other immunosuppressive medications may be necessary.

Keratinocytes are the predominant type of cells found in the epidermis, which is the outermost layer of the skin. These cells are responsible for producing keratin, a tough protein that provides structural support and protection to the skin. Keratinocytes undergo constant turnover, with new cells produced in the basal layer of the epidermis and older cells moving upward and eventually becoming flattened and filled with keratin as they reach the surface of the skin, where they are then shed. They also play a role in the immune response and can release cytokines and other signaling molecules to help protect the body from infection and injury.

Immunoglobulin G (IgG) is a type of antibody, which is a protective protein produced by the immune system in response to foreign substances like bacteria or viruses. IgG is the most abundant type of antibody in human blood, making up about 75-80% of all antibodies. It is found in all body fluids and plays a crucial role in fighting infections caused by bacteria, viruses, and toxins.

IgG has several important functions:

1. Neutralization: IgG can bind to the surface of bacteria or viruses, preventing them from attaching to and infecting human cells.
2. Opsonization: IgG coats the surface of pathogens, making them more recognizable and easier for immune cells like neutrophils and macrophages to phagocytose (engulf and destroy) them.
3. Complement activation: IgG can activate the complement system, a group of proteins that work together to help eliminate pathogens from the body. Activation of the complement system leads to the formation of the membrane attack complex, which creates holes in the cell membranes of bacteria, leading to their lysis (destruction).
4. Antibody-dependent cellular cytotoxicity (ADCC): IgG can bind to immune cells like natural killer (NK) cells and trigger them to release substances that cause target cells (such as virus-infected or cancerous cells) to undergo apoptosis (programmed cell death).
5. Immune complex formation: IgG can form immune complexes with antigens, which can then be removed from the body through various mechanisms, such as phagocytosis by immune cells or excretion in urine.

IgG is a critical component of adaptive immunity and provides long-lasting protection against reinfection with many pathogens. It has four subclasses (IgG1, IgG2, IgG3, and IgG4) that differ in their structure, function, and distribution in the body.

Autoantigens are substances that are typically found in an individual's own body, but can stimulate an immune response because they are recognized as foreign by the body's own immune system. In autoimmune diseases, the immune system mistakenly attacks and damages healthy tissues and organs because it recognizes some of their components as autoantigens. These autoantigens can be proteins, DNA, or other molecules that are normally present in the body but have become altered or exposed due to various factors such as infection, genetics, or environmental triggers. The immune system then produces antibodies and activates immune cells to attack these autoantigens, leading to tissue damage and inflammation.

The epidermis is the outermost layer of the skin, composed mainly of stratified squamous epithelium. It forms a protective barrier that prevents water loss and inhibits the entry of microorganisms. The epidermis contains no blood vessels, and its cells are nourished by diffusion from the underlying dermis. The bottom-most layer of the epidermis, called the stratum basale, is responsible for generating new skin cells that eventually move up to replace dead cells on the surface. This process of cell turnover takes about 28 days in adults.

The most superficial part of the epidermis consists of dead cells called squames, which are constantly shed and replaced. The exact rate at which this happens varies depending on location; for example, it's faster on the palms and soles than elsewhere. Melanocytes, the pigment-producing cells, are also located in the epidermis, specifically within the stratum basale layer.

In summary, the epidermis is a vital part of our integumentary system, providing not only physical protection but also playing a crucial role in immunity and sensory perception through touch receptors called Pacinian corpuscles.

Mouth diseases refer to a variety of conditions that affect the oral cavity, including the lips, gums, teeth, tongue, palate, and lining of the mouth. These diseases can be caused by bacteria, viruses, fungi, or other organisms. They can also result from injuries, chronic illnesses, or genetic factors.

Some common examples of mouth diseases include dental caries (cavities), periodontal disease (gum disease), oral herpes, candidiasis (thrush), lichen planus, and oral cancer. Symptoms may include pain, swelling, redness, bleeding, bad breath, difficulty swallowing or speaking, and changes in the appearance of the mouth or teeth. Treatment depends on the specific diagnosis and may involve medications, dental procedures, or lifestyle changes.

Cadherins are a type of cell adhesion molecule that play a crucial role in the development and maintenance of intercellular junctions. They are transmembrane proteins that mediate calcium-dependent homophilic binding between adjacent cells, meaning that they bind to identical cadherin molecules on neighboring cells.

There are several types of cadherins, including classical cadherins, desmosomal cadherins, and protocadherins, each with distinct functions and localization in tissues. Classical cadherins, also known as type I cadherins, are the most well-studied and are essential for the formation of adherens junctions, which help to maintain cell-to-cell contact and tissue architecture.

Desmosomal cadherins, on the other hand, are critical for the formation and maintenance of desmosomes, which are specialized intercellular junctions that provide mechanical strength and stability to tissues. Protocadherins are a diverse family of cadherin-related proteins that have been implicated in various developmental processes, including neuronal connectivity and tissue patterning.

Mutations in cadherin genes have been associated with several human diseases, including cancer, neurological disorders, and heart defects. Therefore, understanding the structure, function, and regulation of cadherins is essential for elucidating their roles in health and disease.

Desmoplakins are important proteins that play a crucial role in the structural integrity and function of certain types of cell-to-cell junctions called desmosomes. Desmosomes are specialized structures that connect adjacent cells in tissues that undergo significant mechanical stress, such as the skin, heart, and gut.

Desmoplakins are large proteins that are composed of several domains, including a plakin domain, which interacts with other desmosomal components, and a spectrin-like repeat domain, which binds to intermediate filaments. By linking desmosomes to the intermediate filament network, desmoplakins help to provide mechanical strength and stability to tissues.

Mutations in the genes that encode desmoplakins have been associated with several human genetic disorders, including arrhythmogenic right ventricular cardiomyopathy (ARVC), a heart condition characterized by abnormal heart rhythms and structural changes in the heart muscle, and epidermolysis bullosa simplex (EBS), a skin disorder characterized by blistering and fragility of the skin.

An oral ulcer is a defect or break in the continuity of the epithelium, the tissue that lines the inner surface of the mouth, leading to an inflamed, painful, and sometimes bleeding lesion. They can be classified as primary (e.g., aphthous ulcers, traumatic ulcers) or secondary (e.g., those caused by infections, underlying systemic conditions, or reactions to medications). Oral ulcers may cause discomfort, impacting speech and food consumption, and their presence might indicate an underlying medical issue that requires further evaluation.

Pulse therapy, in the context of drug treatment, refers to a therapeutic regimen where a medication is administered in large doses for a short period of time, followed by a break or "drug-free" interval before the next dose. This cycle is then repeated at regular intervals. The goal of pulse therapy is to achieve high concentrations of the drug in the body to maximize its therapeutic effect while minimizing overall exposure and potential side effects.

This approach is often used for drugs that have a long half-life or slow clearance, as it allows for periodic "washing out" of the drug from the body. Pulse therapy can also help reduce the risk of developing drug resistance in certain conditions like rheumatoid arthritis and tuberculosis. Common examples include pulse methotrexate for rheumatoid arthritis and intermittent preventive treatment with anti-malarial drugs.

It is important to note that the use of pulse therapy should be based on a thorough understanding of the drug's pharmacokinetics, therapeutic index, and potential adverse effects. Close monitoring of patients undergoing pulse therapy is essential to ensure safety and efficacy.

Desmoglein 2 is a type of desmoglein protein that is primarily found in the desmosomes of epithelial cells. Desmosomes are specialized structures that help to anchor intermediate filaments to the cell membrane and provide strength and stability to tissues that undergo mechanical stress, such as the skin and heart.

Desmoglein 2 plays a critical role in maintaining cell-cell adhesion by forming intercellular junctions called desmosomal cadherins. These junctions help to hold adjacent cells together and contribute to the integrity of epithelial tissues. Mutations in the gene that encodes Desmoglein 2 have been associated with several skin disorders, including pemphigus vulgaris, a blistering autoimmune disease that affects mucous membranes and the skin. In this condition, antibodies target Desmoglein 2, leading to loss of cell-cell adhesion and formation of blisters.

Desmocollins are a type of cadherin, which is a transmembrane protein involved in cell-cell adhesion. Specifically, desmocollins are found in the desmosomes, which are specialized structures that help to mechanically connect adjacent epithelial cells. There are three main isoforms of desmocollin (Desmocollin-1, -2, and -3) that are encoded by different genes. Mutations in the genes encoding desmocollins have been associated with several skin blistering disorders, including certain forms of epidermolysis bullosa.

... (HHD), or familial benign chronic pemphigus: 559 or familial benign pemphigus,: 622 was originally ... According to Pemphigus Pemphigoid Foundation (IPPF), "familial benign chronic pemphigus, or Hailey-Hailey disease, is a ... The lack of oral lesions and intercellular antibodies distinguishes familial benign pemphigus from other forms of pemphigus.[ ... 48 (12). Ibrahim O, Hogan SR, Vij A, Fernandez AP (October 2017). "Low-Dose Naltrexone Treatment of Familial Benign Pemphigus ( ...
"Hailey-Hailey disease (benign familial pemphigus). DermNet NZ". www.dermnetnz.org. Retrieved 2015-11-15. eMedicine entry on ... Hailey-Hailey disease (also known as familial benign chronic pemphigus) is a blistering disease that can also include ... The familial form, in some cases of syringoma, exhibits a familial pattern in an autosomal-dominant pattern of inheritance. ... Syringomas are benign eccrine sweat duct tumors, typically found clustered on eyelids, although they may also be found in the ...
Axillary hyperhidrosis, apocrine bromhidrosis, hidradenitis suppurativa, and familial benign pemphigus: surgical approach. In: ...
... and the Tunisian endemic pemphigus in North Africa. Hailey-Hailey disease, also called familial benign pemphigus, is an ... Pemphigus vulgaris Pemphigus vegetans Pemphigus vegetans of Hallopeau Pemphigus vegetans of Neumann Pemphigus foliaceus, of ... pemphigus vulgaris (PV) and pemphigus foliaceus (PF). However, several other disorders such as IgA pemphigus, IgE pemphigus, ... the new variant endemic pemphigus Foliaeus and Tunisian endemic pemphigus foliaceus Paraneoplastic pemphigus IgA pemphigus, of ...
... pemphigus, benign familial MeSH C20.188.413.480 - hydrops fetalis MeSH C20.188.413.502 - kernicterus MeSH C20.543.206.380 - ... benign MeSH C20.683.780.640.700 - Schnitzler syndrome MeSH C20.683.780.650 - multiple myeloma MeSH C20.683.780.750 - POEMS ... benign MeSH C20.683.515.250 - giant lymph node hyperplasia MeSH C20.683.515.501 - immunoblastic lymphadenopathy MeSH C20.683. ... familial MeSH C20.111.258.750.800 - polyradiculoneuropathy, chronic inflammatory demyelinating MeSH C20.111.258.850 - stiff- ...
... pemphigus, benign familial MeSH C16.320.850.730 - porokeratosis MeSH C16.320.850.738 - porphyria, erythropoietic MeSH C16.320. ... familial MeSH C16.320.565.618.590 - Menkes kinky hair syndrome MeSH C16.320.565.618.711 - paralyses, familial periodic MeSH ... familial MeSH C16.320.565.100.160 - cerebral amyloid angiopathy, familial MeSH C16.320.565.150 - brain diseases, metabolic, ... familial MeSH C16.320.565.556.480 - hyperlipidemia, familial combined MeSH C16.320.565.556.480.390 - hypercholesterolemia, ...
... pemphigus MeSH C17.800.865.716.700 - pemphigus, benign familial MeSH C17.800.882.712 - sebaceous gland neoplasms MeSH C17.800. ... pemphigus, benign familial MeSH C17.800.827.730 - porokeratosis MeSH C17.800.827.738 - porphyria, erythropoietic MeSH C17.800. ... benign mucous membrane MeSH C17.800.865.690 - pemphigoid, bullous MeSH C17.800.865.700 - pemphigoid gestationis MeSH C17.800. ...
Familial benign chronic pemphigus (familial benign pemphigus, Hailey-Hailey disease) Fanconi syndrome (familial pancytopenia, ... Pemphigoid nodularis Pemphigus vegetans Pemphigus vegetans of Hallopeau Pemphigus vegetans of Neumann Pemphigus vulgaris ... Paraneoplastic pemphigus Pemphigus erythematosus (Senear-Usher syndrome) Pemphigus foliaceus Pemphigus herpetiformis ( ... Endemic pemphigus (endemic pemphigus foliaceus, fogo selvagem) Epidermolysis bullosa acquisita Grover's disease (benign papular ...
... benign tumour-like malformations (6) but there is debate if they are developmental abnormality, true benign tumour or hamartoma ... Kayani, Mahaz; Aslam, Arif M. (2017-06-08). "Bullous pemphigoid and pemphigus vulgaris". BMJ. 357: j2169. doi:10.1136/bmj.j2169 ... usually familial, swellings appear in multiples and are more common to some Native American and Inuit groups. Verricuform ... Benign soft tissue neoplasms 1. Peripheral nerve sheath tumours most commonly are traumatic neuromas, a reactive response to ...
"Familial eosinophilia: a benign disorder?". Blood. 103 (11): 4050-4055. doi:10.1182/blood-2003-11-3850. PMID 14988154. Valent P ... Allergic disorders Asthma Hay fever Drug allergies Allergic skin diseases Pemphigus Dermatitis herpetiformis IgG4-related ... "EOS eosinophilia, familial [Homo sapiens (human)] - Gene - NCBI". OMIM Entry - % 131400 - EOSINOPHILIA, FAMILIAL Klion AD, Law ... familial eosinophilia typically has a benign phenotype compared to other congenital and acquired eosinophilic diseases. ...
Familial renal disease is an uncommon cause of kidney failure in young dogs. Most causes are breed-related (familial) and some ... Pemphigus is an uncommon autoimmune skin disease. The most common form in dogs is pemphigus foliaceus, which manifests as ... Histiocytoma is a benign skin tumor that is more frequent in young dogs (. ... Pemphigus vulgaris is more rare and manifests as blister-like lesions in the mouth and at mucocutaneous junctions. Bullous ...
... back syndrome familial cholestasis syndrome Familial cold autoinflammatory syndrome Familial Mediterranean fever Familial ... syndrome PANDAS Peeling skin syndrome PEHO syndrome Pellegrini-Stieda syndrome Pelvic congestion syndrome Pelvic pain Pemphigus ... Beare-Stevenson cutis gyrata syndrome Beckwith-Wiedemann syndrome Behcet's syndrome Behr syndrome Benedikt syndrome Benign ...
Familial benign pemphigus is a chronic autosomal dominant disorder with incomplete penetrance. ... Familial benign pemphigus (Hailey-Hailey disease) originally was described by the Hailey brothers in 1939. ... encoded search term (Familial Benign Pemphigus (Hailey-Hailey Disease)) and Familial Benign Pemphigus (Hailey-Hailey Disease) ... Familial benign pemphigus causes discomfort but is not life threatening. Benign familial pemphigus lesions often begin during ...
Familial benign pemphigus is a chronic autosomal dominant disorder with incomplete penetrance. ... Familial benign pemphigus (Hailey-Hailey disease) originally was described by the Hailey brothers in 1939. ... encoded search term (Familial Benign Pemphigus (Hailey-Hailey Disease)) and Familial Benign Pemphigus (Hailey-Hailey Disease) ... Familial benign pemphigus causes discomfort but is not life threatening. Benign familial pemphigus lesions often begin during ...
Familial benign pemphigus is a chronic autosomal dominant disorder with incomplete penetrance. ... Familial benign pemphigus (Hailey-Hailey disease) originally was described by the Hailey brothers in 1939. ... encoded search term (Familial Benign Pemphigus (Hailey-Hailey Disease)) and Familial Benign Pemphigus (Hailey-Hailey Disease) ... Improvement of familial benign pemphigus after treatment with pulsed-dye laser: a case report. Dermatol Surg. 2006 Jul. 32(7): ...
Familial benign pemphigus is a chronic autosomal dominant disorder with incomplete penetrance. ... Familial benign pemphigus (Hailey-Hailey disease) originally was described by the Hailey brothers in 1939. ... encoded search term (Familial Benign Pemphigus (Hailey-Hailey Disease)) and Familial Benign Pemphigus (Hailey-Hailey Disease) ... Familial benign pemphigus causes discomfort but is not life threatening. Benign familial pemphigus lesions often begin during ...
Investigations of familial benign chronic pemphigus Hailey-Haileys by electron microscopy. Kudejko, Jan ( -1987). ...
Hailey-Hailey disease (HHD), or familial benign chronic pemphigus: 559 or familial benign pemphigus,: 622 was originally ... According to Pemphigus Pemphigoid Foundation (IPPF), "familial benign chronic pemphigus, or Hailey-Hailey disease, is a ... The lack of oral lesions and intercellular antibodies distinguishes familial benign pemphigus from other forms of pemphigus.[ ... 48 (12). Ibrahim O, Hogan SR, Vij A, Fernandez AP (October 2017). "Low-Dose Naltrexone Treatment of Familial Benign Pemphigus ( ...
Pemphigus, benign familial, see Hailey-Hailey disease. *Pendred syndrome. *Pendreds syndrome, see Pendred syndrome ... Primary familial dilated cardiomyopathy, see Familial dilated cardiomyopathy. *Primary familial polycythemia, see Familial ... Primary familial xanthomatosis, see Lysosomal acid lipase deficiency. *Primary familial xanthomatosis with adrenal ... Portuguese type familial amyloid neuropathy, see Transthyretin amyloidosis. *Postaxial acrofacial dysostosis (POADS), see ...
Axillary hyperhidrosis, apocrine bromhidrosis, hidradenitis suppurativa, and familial benign pemphigus: surgical approach. In: ... Pink AE, Simpson MA, Brice GW, Smith CH, Desai N, Mortimer PS, PSENEN and NCSTN mutations in familial hidradenitis suppurativa ... Approximately one third of HS patients have a familial history of HS. Familial HS is transmitted with a dominant autosomal ... inheritance pattern, and mutations in the gamma secretase genes have been associated with a subset of familial cases (4,5). The ...
... pemphigus vegetans, benign familial pemphigus (Hailey-Hailey disease), toxic epidermal necrolysis, and extramammary Paget ... benign familial pemphigus (Hailey-Hailey disease), or axillary granuloma parakeratosis. ... or benign familial pemphigus (Hailey-Hailey disease). ... pemphigus, atopic dermatitis, scabies, metabolic diseases, and ...
... benign chronic familial pemphigus (Hailey-Hailey), and porphyria cutanea tarda). Evaluate under the General Rating Formula for ... 7815 Bullous disorders (including pemphigus vulgaris, pemphigus foliaceous, bullous pemphigoid, dermatitis herpetiformis, ... 7819 Benign skin neoplasms: Rate as disfigurement of the head, face, or neck (DC 7800), scars (DCs 7801, 7802, 7803, 7804, or ...
... and benign familial pemphigus (Hailey-Hailey disease). Rarer associations include Grover disease, ichthyosis vulgaris, contact ... Other skin disorders that may be associated with eczema herpeticum include Darier disease, pemphigus foliaceus, ...
familial benign chronic pemphigus. November 13, 2018 * sendero luminoso. November 17, 2018 ...
... familial benign pemphigus, dyshidrotic eczema, and surgical wound closures.1. Botulinum toxin type A (BoNTA) blocks the release ...
Benign ethnic neutropenia , Benign familial neonatal convulsions , Benign familial pemphigus , Benign rolandic epilepsy , Beta- ... Atypical benign partial epilepsy , Atypical pneumonia , Aura , Autoantibody positive , Autoimmune anaemia , Autoimmune aplastic ... Paraneoplastic pemphigus , Paraneoplastic thrombosis , Paresis cranial nerve , Parietal cell antibody positive , Paroxysmal ... Pemphigus , Penile vein thrombosis , Pericarditis , Pericarditis lupus , Perihepatic discomfort , Periorbital oedema , ...
Familial Benign Chronic Pemphigus. Hyperkeratosis, Acantholysis. ORPHA:2841. Acute Generalized Exanthematous Pustulosis. ...
Pemphigus is a rare group of autoimmune diseases.It causes blisters on the skin and mucous membranes throughout the body. Learn ... "Familial Benign Pemphigus Pathology." Familial Benign Pemphigus Pathology , DermNet NZ, 2015, dermnetnz.org/topics/familial- ... Hailey-Hailey disease, or benign familial chronic pemphigus, is a rare autosomal dominant disease that can be difficult to ... skin biopsy can differentiate Hailey-Hailey from other pemphigus disorders and prognosis is generally good with proper ...
Familial benign pemphigus1 test. *Familial cancer of breast1 test. *Familial cold autoinflammatory syndrome1 test ... Seizures, benign familial infantile, 21 test. *Seizures, benign familial neonatal, 11 test ...
Report a problem related to object: Investigations of familial benign chronic pemphigus Hailey-Haileys by electron microscopy ...
Benign familial pemphigus (Hailey-Hailey). *Cutis laxa (hyperelastica). *Dermatoglyphic anomalies. *Inherited keratosis ...
familial atrial fibrillation. *familial benign chronic pemphigus, see benign chronic pemphigus. *Familial benign giant-cell ... familial TAAD, see familial thoracic aortic aneurysm and dissection. *familial thoracic aortic aneurysm, see familial thoracic ... familial aortic aneurysm, see familial thoracic aortic aneurysm and dissection. *familial aortic dissection, see familial ... Familial multilocular cystic disease of the jaws, see cherubism. *familial multiple polyposis syndrome, see familial ...
Seen in Pemphigus, familial benign chronic pemphigus and recessive form of epidermolysis bullosa ...
Photodynamic therapy with 5-aminolevulinic acid for recalcitrant familial benign pemphigus Hailey-Hailey disease. The chain ... script executor escape from tarkov in the eyes Cardiovascular disease Cholesterol embolism Cholesterol total synthesis Familial ...
... characterization and inheritance patterns of the first cases of Canine Benign Familial Pemphigus. ...
Familial benign chronic pemphigus and doxycycline a review of 6 cases ,a href=http://cialis.motorcycles,cialis generic name,/a ... Ontario familial breast cancer registry OFBCR, and the Singapore and Sweden breast cancer study SASBAC, two nested case control ...
Benign Familial Chronic Pemphigus. Birthmark (Red). Blue Nevus. Boils. Bullous Pemphigoid. Cellulite ...
Taking into account the clinical signs and symptoms and age of manifestation, we initially suspected familial benign pemphigus ... We describe a familial case of enteropathic acrodermatitis in a 4-month old girl with advanced skin lesions and diarrhea. The ... We present a clinical case of a 33-year old male patient with a 15-year history of psoriasis, dramatic worsening of his benign ... A clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 gene ...
Benign familial pemphigus Topical antibiotics such as or are used short term for localised infection but are best arcea- ...
aplasia;Behcets syndrome;Benign ethnic neutropenia;Benign familial neonatal. convulsions;Benign familial pemphigus;Benign ... benign partial epilepsy;Atypical pneumonia;Aura;Autoantibody positive;Autoimmune. anaemia;Autoimmune aplastic anaemia; ... dermatomyositis;Paraneoplastic pemphigus;Paraneoplastic thrombosis;Paresis cranial. nerve;Parietal cell antibody positive; ... thrombosis;Pemphigoid;Pemphigus;Penile vein thrombosis;Pericarditis;Pericarditis. lupus;Perihepatic discomfort;Periorbital ...
Benign ethnic neutropenia;Benign familial neonatal convulsions;Benign familial pemphigus;Benign rolandic epilepsy;Beta-2 ... Atypical benign partial epilepsy;Atypical pneumonia;Aura;Autoantibody positive;Autoimmune anaemia;Autoimmune aplastic anaemia; ... Paraneoplastic pemphigus;Paraneoplastic thrombosis;Paresis cranial nerve;Parietal cell antibody positive;Paroxysmal nocturnal ... Pemphigus;Penile vein thrombosis;Pericarditis;Pericarditis lupus;Perihepatic discomfort;Periorbital oedema;Periorbital swelling ...
  • Familial benign pemphigus (Hailey-Hailey disease) originally was described by the Hailey brothers in 1939. (medscape.com)
  • Hailey-Hailey disease, or familial benign pemphigus, is hypothesized to result from a genetic defect in a calcium pump protein. (medscape.com)
  • Acantholytic dermatosis of the crural folds may be a variant of Hailey-Hailey disease (familial benign pemphigus) and is also associated with ATP2C1 mutation. (medscape.com)
  • In addition to the primary gene defect in Hailey-Hailey disease (familial benign pemphigus), contributing factors are known that exacerbate the disease. (medscape.com)
  • Ruiz-Rodriguez R, Alvarez JG, Jaen P, Acevedo A, Cordoba S. Photodynamic therapy with 5-aminolevulinic acid for recalcitrant familial benign pemphigus (Hailey-Hailey disease). (medscape.com)
  • Carbon dioxide laserabrasion: a new approach to management of familial benign chronic pemphigus (Hailey-Hailey disease). (medscape.com)
  • Kartamaa M, Reitamo S. Familial benign chronic pemphigus (Hailey-Hailey disease). (medscape.com)
  • Hailey-Hailey disease (HHD), or familial benign chronic pemphigus: 559 or familial benign pemphigus,: 622 was originally described by the Hailey brothers (Hugh Edward and William Howard) in 1939. (wikipedia.org)
  • citation needed] While the term pemphigus typically refers to "a rare group of blistering autoimmune diseases" affecting "the skin and mucous membranes", Hailey-Hailey disease is not an autoimmune disorder and there are no autoantibodies. (wikipedia.org)
  • Axillae: Consider inverse psoriasis, erythrasma, seborrheic dermatitis, irritant or allergic contact dermatitis from deodorants/shaving, benign familial pemphigus (Hailey-Hailey disease) , or axillary granuloma parakeratosis. (medscape.com)
  • Inframammillae: Consider inverse psoriasis, candidal infection, inflammatory metastatic breast cancer, Paget disease, or benign familial pemphigus (Hailey-Hailey disease). (medscape.com)
  • Other skin disorders that may be associated with eczema herpeticum include Darier disease, pemphigus foliaceus, and benign familial pemphigus (Hailey-Hailey disease). (racgp.org.au)
  • Hailey-Hailey disease, or benign familial chronic pemphigus, is a rare autosomal dominant disease that can be difficult to diagnose due to wide variation in clinical features. (vohrawoundcare.com)
  • [ 1 ] Familial benign pemphigus is a chronic autosomal dominant disorder with incomplete penetrance. (medscape.com)
  • Hailey H, Hailey H. Familial benign chronic pemphigus. (medscape.com)
  • A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis. (uchicago.edu)
  • low mitotic rate TYPES ▪ Embryonic origin of GI tract (e.g. foregut, midgut, hindgut) Foregut tumors (e.g. stomach) ▪ Type I ▫ Most common ▫ Originates from enterochromaffin-like (ECL) cells ▫ In association with high gastrin levels secondary to chronic atrophic gastritis ▫ Small, usually benign ▪ Type II ▫ Originates from ECL cells ▫ In association with high gastrin levels induced by gastrinomas (e.g. (osmosis.org)
  • Benign and malignant types. (mhmedical.com)
  • Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. (findzebra.com)
  • Both benign and malignant tumors, which are not cancerous, can damage your peripheral nervous system. (ontariohomeopath.ca)
  • A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. (lookformedical.com)
  • Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (lookformedical.com)
  • Through ultrastructural studies of familial benign pemphigus lesions, characteristic changes in keratinocyte morphology have been described, including retracted tonofilaments, elongated membrane microvilli, and reduced numbers of desmosomes. (medscape.com)
  • Benign familial pemphigus lesions often begin during the teenage years and manifest as itchy and malodorous plaques. (medscape.com)
  • The lack of oral lesions and intercellular antibodies distinguishes familial benign pemphigus from other forms of pemphigus. (wikipedia.org)
  • Medscape Drugs & Diseases articles on pemphigus include Pemphigus Erythematosus , Pemphigus Foliaceus , Pemphigus Herpetiformis , and Pemphigus Vulgaris . (medscape.com)
  • Decreased numbers of desmosomes have been implicated in the pathogenesis of benign familial pemphigus. (medscape.com)
  • Many hypotheses exist concerning the pathogenesis of familial benign pemphigus, but the cause remains uncertain. (medscape.com)
  • Characterization of skin cytokines in bullous pemphigoid and pemphigus vulgaris. (uchicago.edu)
  • Botulinum toxin has also been used experimentally in the treatment of many other dermatological conditions with positive results, including persistent facial flushing, gustatory sweating, anal fissures, familial benign pemphigus, dyshidrotic eczema, and surgical wound closures. (jcadonline.com)
  • Benign familial pemphigus Topical antibiotics such as or are used short term for localised infection but are best arcea-pradettes.com where Can I Get Triamcinolone Cheap a sexually transmitted disease std Velocity Max Legends Nightclub You must destroy all this Kingdom. (arcea-pradettes.com)
  • Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells. (lookformedical.com)
  • Solitary or multiple benign hepatic vascular tumors, usually occurring in women of 20-50 years of age. (lookformedical.com)
  • Lopez-Ferrer A, Alomar A. Botulinum toxin A for the treatment of familial benign pemphigus. (medscape.com)
  • I was diagnosed in 1991 with an immune system disease called " Pemphigus Benign Familial" - which in simple terms is a condition brought on by stress and causes blistering of the skin folds in most areas of your body. (algaecal.com)
  • Familial AN, drug-induced AN, AN occurring in hyperinsulinemic states (eg, diabetes, obesity), AN associated with polycystic ovary disease, and AN associated with a spectrum of autoimmune disease in women should be considered before AN is determined to represent a paraneoplastic syndrome. (medscape.com)
  • Secondary Condyloma är en vårdliknande hudskada som kan uppstå i fall av När det gäller platt kondylom, även känd som kondylom lata, utförs behandling med Lata Lacosse. (netlify.app)
  • Approximately two thirds of patients with familial benign pemphigus have a family history of the disorder. (medscape.com)
  • Patients with familial benign pemphigus live long and productive lives. (medscape.com)
  • 6] Case reports have described AN associated with hematologic malignancies, including acute myeloid leukemia, and even benign gastrointestinal neoplasms. (medscape.com)
  • [ 4 ] . Study of familial and sporadic cases of familial benign pemphigus in the Chinese population has revealed a number of mutations scattered throughout the ATP2C1 gene. (medscape.com)
  • He collaborated on the identification, characterization and inheritance patterns of the first cases of Canine Benign Familial Pemphigus. (lancasterpetemergency.com)
  • Improvement of familial benign pemphigus after treatment with pulsed-dye laser: a case report. (medscape.com)
  • Differential histological characteristics of benign hereditary familial pemphigus, Darier's disease and chronic pemphigus vulgaris]. (nih.gov)
  • discussion on the relation of this disease to Darier's disease and chronic pemphigus vulgaris]. (nih.gov)
  • Pemphigus vulgaris in two MHC-haploidentical brothers. (nih.gov)
  • Medscape Drugs & Diseases articles on pemphigus include Pemphigus Erythematosus , Pemphigus Foliaceus , Pemphigus Herpetiformis , and Pemphigus Vulgaris . (medscape.com)
  • NEW YORK (Reuters Health) Jul 03 - Methotrexate allows discontinuation of steroids in many patients with pemphigus vulgaris, a retrospective study suggests. (medscape.com)
  • Methotrexate should be considered as a first-line adjuvant treatment option for patients with pemphigus vulgaris," Dr. Kathleen D. Tran from New York University Medical Center, New York told Reuters Health. (medscape.com)
  • Although methotrexate has been used for pemphigus vulgaris at least since 1968, only a few small studies have evaluated it, and none of them were randomized controlled trials. (medscape.com)
  • Dr. Tran and colleagues reviewed their experience in 23 patients with pemphigus vulgaris who were treated with methotrexate between 2001 and 2012, using its steroid-sparing effect as a marker of clinical improvement. (medscape.com)
  • I would like other physicians to understand that this inexpensive, widely-available drug is an effective, underutilized, underappreciated treatment option for pemphigus vulgaris" Dr. Tran said. (medscape.com)
  • Other systemic immunomodulators such as mycophenolate mofetil, dapsone, (and) azathioprine have all shown efficacy in pemphigus vulgaris," Dr. Tran added. (medscape.com)
  • It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease. (nih.gov)
  • Welcome to the website of the Pemphigus Vulgaris Network, the United Kingdom support group for people living with Pemphigus and Mucous Membrane Pemphigoid. (pemphigus.org.uk)
  • What is Pemphigus Vulgaris? (pemphigus.org.uk)
  • Pemphigus Vulgaris (PV) is one of a group of rare, relapsing auto-immune diseases causing blistering of the skin and mucous membranes (eg mouth, nose, throat and genitals). (pemphigus.org.uk)
  • The Pemphigus Vulgaris Network is a voluntary, not-for-profit, group started in 1997 to provide information and support for people living with pemphigus and their relatives, friends and carers. (pemphigus.org.uk)
  • Cheques should be made out to the Pemphigus Vulgaris Network and sent c/o 14 Lime Court, Gayton Rd, Harrow HA1 2YD. (pemphigus.org.uk)
  • How is Pemphigus Vulgaris diagnosed? (pemphigus.org.uk)
  • Pemphigus Vulgaris is rare and most general practitioners (GPs) have never seen it. (pemphigus.org.uk)
  • Direct immunofluorescence microscopy performed on epithelial biopsy specimen obtained from a patient with pemphigus vulgaris detects immunoglobulin G deposits at the epithelial cell surfaces. (medscape.com)
  • Pérez-Pérez et al hypothesized that pemphigus erythematosus is a multiple autoimmune disease. (medscape.com)
  • The lupus component of pemphigus erythematosus is demonstrated by circulating antinuclear antibodies (ANA) and sometimes by immunoglobulin and complement deposits at the dermoepidermal junction. (medscape.com)
  • Onset and progression of pemphigus erythematosus are typically slow. (medscape.com)
  • [ 2 ] Patients with classic pemphigus erythematosus present with small, flaccid bullae with scaling and crusting. (medscape.com)
  • On the face, pemphigus erythematosus presents on the bridge of the nose and on the malar areas as in the butterfly distribution seen in LE. (medscape.com)
  • With extensive involvement, pemphigus erythematosus patients may present with an exfoliative erythroderma. (medscape.com)
  • Patients with pemphigus erythematosus do not typically develop mucous membrane involvement. (medscape.com)
  • In pemphigus erythematosus, select an early vesicle or bulla for skin biopsy. (medscape.com)
  • With direct immunofluorescence (see the image above) in pemphigus erythematosus, linear deposits of immunoglobulin G (IgG) and C3 are present in the intercellular space of the epidermis. (medscape.com)
  • With immunoelectron microscopy in pemphigus erythematosus, IgG and C3 deposits are localized to the epidermal cell membranes and the upper dermis. (medscape.com)
  • Enzyme-linked immunosorbent assay (ELISA) has also been suggested as a useful diagnostic method in suspected cases of pemphigus erythematosus with equivocal immunofluorescence results. (medscape.com)
  • Topical corticosteroids are useful for pemphigus erythematosus patients with limited disease or as an adjunct to systemic therapy. (medscape.com)
  • Griffies et al reported promising results in treating discoid lupus and pemphigus erythematosus in dogs with topical application of 0.1% tacrolimus, an immunomodulator produced by a fungus. (medscape.com)
  • Approximately two thirds of patients with familial benign pemphigus have a family history of the disorder. (medscape.com)
  • Pelger-Hüet anomaly is a benign inherited disorder. (remixeducation.in)
  • In general, we find the best way we can help is if you also have a look at the International Pemphigus and Pemphigoid Foundation website and then see if you have any further questions or if there is anything you want clarified. (pemphigus.org.uk)
  • [ 4 ] . Study of familial and sporadic cases of familial benign pemphigus in the Chinese population has revealed a number of mutations scattered throughout the ATP2C1 gene. (medscape.com)
  • No precise data are available on the incidence of familial benign pemphigus. (medscape.com)
  • Familial benign pemphigus often manifests in the late teenage years or in adulthood (30s and 40s). (medscape.com)
  • In pemphigus disorders the immune system makes a mistake, views cells in the skin and mucous membranes as foreign and an immune response is triggered. (pemphigus.org.uk)
  • Type II (Benign): Endocrine issues. (abcmedicalnotes.com)
  • Primary hyperparathyroidism is also a feature of several familial endocrine disorders: Multiple endocrine neoplasia type 1 and type 2A (MEN type 1 and MEN type 2A), and familial hyperparathyroidism. (the-medical-dictionary.com)
  • Primary hyperparathyroidism causes hypercalcemia (elevated blood calcium levels) through the excessive secretion of parathyroid hormone (PTH), usually by an adenoma (benign tumors) of the parathyroid glands. (the-medical-dictionary.com)
  • A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. (jax.org)
  • Summary Background Epithelioid haemangioma (EH) arising from the skin is a benign vascular tumour with marked inflammatory. (cn1699.cn)
  • Sometimes people want to talk to another person with pemphigus just to share a common experience. (pemphigus.org.uk)