Darier Disease
An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
Pemphigus, Benign Familial
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.
Sarcoplasmic Reticulum Calcium-Transporting ATPases
MedlinePlus
Spectrum of novel ATP2A2 mutations in patients with Darier's disease. (1/77)
Darier's disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently, we identified ATP2A2 encoding the sarco/endoplasmic reticulum Ca(2+)ATPase isoform 2 as the defective gene in DD. Now we report a spectrum of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate genotype-phenotype correlations. All 21 exons and flanking intron boundaries were amplified and screened for mutations by conformation-sensitive gel electrophoresis and direct sequencing. We identified 24 novel mutations that are scattered throughout the ATP2A2 gene. Two families shared an identical mutation on a common disease-associated haplotype, suggesting inheritance from a common ancestor. The majority of the mutations (54%; 13/24) led to a premature termination codon which further supports the proposal that haploin-sufficiency is a common molecular mechanism for DD. Thirty-eight per cent of mutations (9/24) result in non-conservative amino acid substitutions at highly conserved positions. Two mutations predict mutated polypeptides lacking or carrying additional amino acids. Marked inter- and intrafamilial phenotypic variability of the disease was observed. These results illustrate the considerable diversity of ATP2A2 mutations causing DD and suggest that additional factors are important contributors to the clinical phenotype. (+info)ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. (2/77)
Darier's disease (DD) is an autosomal dominant skin disorder characterized clinically by multiple keratotic papules, and histologically by focal loss of adhesion between epidermal cells (acantholysis) and by abnormal keratinization. Variant forms of cutaneous phenotype, sometimes familial, have been described. Associated neuropsychiatric features, including mental handicap, schizophrenia, bipolar disorder and epilepsy, have also been reported. The cause of DD was shown recently to be mutation in the ATP2A2 gene at 12q24.1, which encodes the sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2). Here, we show that while both common isoforms of SERCA2 are expressed in the cytoplasm of cultured keratinocytes and fibroblasts, in adult skin sections only the longer isoform, SERCA2b, was expressed abundantly in epidermal structures. Extended mutation analysis in European DD patients using single-strand conformation polymorphism and/or direct sequencing identified 40 different patient-specific mutations in 47 families. The majority (23/40) were likely to result in nonsense-mediated RNA decay. The remaining 17 were missense mutations distributed throughout the protein and were associated significantly with atypical clinical features. The clearest association was with the familial haemorrhagic variant where all four families tested had a missense mutation. Three of the families (one Scottish family and two unrelated Italian families) exhibited the same N767S substitution in the M5 transmembrane domain, and a fourth family, from Sweden, had a C268F substitution in the M3 transmembrane domain. Neuropsychiatric features did not appear to be associated with a specific class of mutation and may be an intrinsic, but inconsistent, effect of defective ATP2A2 expression. (+info)ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. (3/77)
Darier's disease (DD) is a rare, dominantly inherited disorder that affects the skin producing a variety of types of lesion. Close examination of lesional DD skin shows the presence of abnormal keratinization (epidermal differentiation) and acantholysis (loss of cohesion) of keratinocytes. A number of clinical studies have described the co-occurrence of various neurological and psychiatric symptoms with DD, including mood disorders, epilepsy, mental retardation and a slowly progressive encephalopathy. A single locus for DD has been mapped to chromosome 12q23-q24.1, and a variety of missense, nonsense, frameshift and splicing mutations in the ATP2A2 gene have been described recently in families with DD. This gene encodes the sarcoplasmic/endoplasmic reticulum calcium-pumping ATPase SERCA2, which has a central role in intra-cellular calcium signalling. In this study, we performed mutation analysis on ATP2A2 in 19 unrelated DD patients, of whom 10 had neuropsychiatric phenotypes. We identified and verified 17 novel mutations predicting conservative and non-conservative amino acid changes, potential premature translation terminations and potential altered splicing. Our findings confirm that mutations in ATP2A2 are associated with DD. In neuropsychiatric cases, there was a non-random clustering of mutations in the 3' end of the gene ( P = 0.01), and a predominance of the missense type (70% versus 38% in DD patients). This supports the hypothesis that the DD gene has pleiotropic effects in brain and that mutations in SERCA2 are implicated in the pathogenesis of neuropsychiatric disorders. (+info)Ca(2+)-ATPase function is required for intracellular trafficking of the Notch receptor in Drosophila. (4/77)
Maintaining high Ca(2+) concentrations in the lumen of the endoplasmic reticulum is important for protein synthesis and transport. We identified a lethal complementation group recovered in a screen for mutations that reduce Notch activity as loss-of-function alleles of the Drosophila Ca(2+)-ATPase gene Ca-P60A. Analysis of Ca-P60A mutants indicates that Ca(2+)-ATPase is essential for cell viability and tissue morphogenesis during development. Cultured cells treated with Ca(2+)-ATPase inhibitors exhibit impaired Notch cleavage and receptor trafficking to the cell surface, explaining the genetic interaction between Ca(2+)-ATPase and Notch. Notch and several other transmembrane proteins are mislocalized in tissue clones homozygous for Ca-P60A mutations, demonstrating a general effect on membrane protein trafficking caused by a deficiency in Ca(2+)-ATPase. (+info)Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. (5/77)
Monilethrix is a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis. Mutations in the human basic hair keratins hHb1 and hHb6 have recently been reported in this disease. Twelve families and sporadic cases were clinically diagnosed with monilethrix and were available for the study. The gene segment encoding the helix termination motif region of keratin hHb6 was PCR amplified and sequenced. Mutations were recognized in 6 families. Four families had the previously described mutations, Glu413Lys and Glu413Asp. In 2 unrelated families, a novel mutation, Glu402Lys, was identified. No clear association was found between the severity of the phenotype and the mutation carried. Furthermore, heterozygous members of the same family had variable degrees of hair and skin involvement. Homozygous patients identified in one large consanguineous family were more severely affected. Other genetic or environmental factors may also play a role in monilethrix. (+info)Darier's disease: a new paradigm for genetic studies in psychiatric disorders. (6/77)
CONTEXT: One strategy for identifying susceptibility genes for common disorders is to investigate Mendelian diseases, cosegregating with these common disease phenotypes. CASE REPORT: A family with seven members is described, in which three members present Darier's disease and depression. This apparent cosegregation, if true, would support the hypothesis that in some pedigrees, a gene for mood disorder may be located on chromosome 12. (+info)Mosaicism for ATP2A2 mutations causes segmental Darier's disease. (7/77)
Epidermal naevi are localized malformations of the epidermis consisting of verrucoid scaly papules and plaques following Blaschko's lines. Genetic mosaicism has been proposed to underlie the development of linear epidermal naevi. Rarely, epidermal naevi show acantholytic histology similar to Darier's disease, a dominantly inherited skin condition characterized by widespread warty papules. As patients with acantholytic dyskeratotic naevi often give a history of worsening after sun exposure and the lesions are typical of Darier's disease, numerous authors have proposed that these patients have segmental Darier's disease. The postulated relationship has not been proven, however. Recently, we identified ATP2A2, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 as the defective gene in Darier's disease. In this report, we investigated the involvement of ATP2A2 in acantholytic dyskeratotic naevi following Blaschko's lines in two patients. We identified a nonsense mutation (Y894X) in the first patient and a nonconservative glycine to arginine mutation at codon 769 (G769R) in the other patient. These mutations were present in affected skin, and were not detected in unaffected skin or in leukocytes. We conclude that acantholytic dyskeratotic naevi can arise from a somatic mutation in ATP2A2. These individuals are mosaics for the mutation, but the risk of transmission of generalized Darier's disease will depend on whether the germline is affected. Our findings provide further evidence that Blaschko's lines do reflect genetic mosaicism and that the term acantholytic dyskeratotic naevus might be replaced in the future by segmental Darier's disease induced by postzygotic mosaicism. J Invest Dermatol 115:1144-1147 2000 (+info)Sepsis as an unusual event in dyskeratosis follicularis. (8/77)
Dyskeratosis follicularis is a genetic disorder characterized by pathogenetic changes of keratinization. We report on a severe case of the disease with an unusual manifestation involving Staphylococcal sepsis. The patient was treated systemically with infusions, oral antibiotics, and retinoids. Antiseptics, keratolytic ointments, and creams were given topically to promote epithelization. His condition improved dramatically after 14 days of treatment. All erosions of the trunk, extremities, neck, and head had epithelized. We suspect that extreme sun exposure and neglect of care on genetically susceptible sites triggered the sepsis. (+info)Darier Disease, also known as Darier-White Disease or Keratosis Follicularis, is a genetic skin disorder characterized by the formation of greasy, crusted, keratotic papules and plaques, usually on the torso, extremities, and scalp, often exacerbated by heat, sunlight, infection, or emotional stress.
Darier Disease is a genetic skin disorder, also known as Keratosis Follicularis. It is characterized by the formation of greasy, crusted, keratotic papules and plaques that typically appear on the upper arms, torso, and scalp. The lesions may also affect the nasolabial folds, central face, and mucous membranes. Darier Disease is caused by mutations in the ATP2A2 gene, which encodes a calcium pump protein involved in keratinization. It is an autosomal dominant disorder, meaning that a person has a 50% chance of inheriting the disease if one of their parents is affected. The onset of symptoms typically occurs during adolescence or early adulthood. Treatment options include topical medications, oral retinoids, and photodynamic therapy.
Benign familial pemphigus is a rare autosomal dominant blistering disorder characterized by the formation of flaccid blisters and erosions on mucous membranes, typically affecting the oral cavity, but occasionally involving other mucocutaneous sites, with minimal scarring and spontaneous remission usually occurring within months to a few years.
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.
Sarcoplasmic Reticulum Calcium-Transporting ATPases are membrane-bound enzymes in the sarcoplasmic reticulum of muscle cells that use ATP hydrolysis to transport calcium ions into the lumen of the sarcoplasmic reticulum, thereby playing a critical role in muscle relaxation by reducing cytoplasmic calcium concentrations.
Sarcoplasmic Reticulum Calcium-Transporting ATPases (SERCA) are a type of calcium pumps that are located in the sarcoplasmic reticulum (SR) of muscle cells. They play a crucial role in excitation-contraction coupling, which is the process by which muscles contract and relax.
During muscle contraction, calcium ions (Ca2+) are released from the SR into the cytosol, triggering muscle fiber contraction. After the muscle fiber has contracted, Ca2+ must be actively transported back into the SR to allow the muscle fiber to relax. This is where SERCA comes in.
SERCA uses energy from ATP hydrolysis to transport Ca2+ against its concentration gradient from the cytosol back into the lumen of the SR. By doing so, it helps maintain low cytosolic Ca2+ concentrations and high SR Ca2+ concentrations, which are necessary for muscle relaxation and subsequent contraction.
There are several isoforms of SERCA, each with slightly different properties and tissue distributions. For example, SERCA1 is primarily found in fast-twitch skeletal muscle fibers, while SERCA2a is found in both slow-twitch and fast-twitch skeletal muscle fibers as well as cardiac muscle. Mutations in the genes encoding these pumps can lead to various muscle disorders, including certain forms of muscular dystrophy and heart failure.
MedlinePlus is a trusted and comprehensive consumer health website, developed by the U.S. National Library of Medicine, which provides high-quality, accurate, and accessible information about diseases, conditions, and wellness, as well as medicines, medical tests, and recent health news, in both English and Spanish languages.
MedlinePlus is not a medical term, but rather a consumer health website that provides high-quality, accurate, and reliable health information, written in easy-to-understand language. It is produced by the U.S. National Library of Medicine, the world's largest medical library, and is widely recognized as a trusted source of health information.
MedlinePlus offers information on various health topics, including conditions, diseases, tests, treatments, and wellness. It also provides access to drug information, medical dictionary, and encyclopedia, as well as links to clinical trials, medical news, and patient organizations. The website is available in both English and Spanish and can be accessed for free.
A plant tuber is an underground, swollen, and thickened stem or root structure that serves as a food storage organ, from which new shoots and roots can grow for the propagation and survival of certain plant species.
A plant tuber is not a medical term per se, but rather a term from botany. However, I can certainly provide a definition for you.
Tubers are specialized underground stems or roots that serve as storage organs for many types of plants. They consist of enlarged structures filled with nutrients, such as carbohydrates, proteins, and other organic compounds. Tubers can be classified into two main categories: true tubers and false tubers.
True tubers are swollen underground stems, such as those found in potatoes (Solanum tuberosum). They have nodes and internodes like aboveground stems, but they lack leaves or buds. Instead, they have small bumps called "eyes" that contain dormant buds, which can sprout to produce new plants when conditions are favorable.
False tubers, on the other hand, are enlarged roots, such as those found in cassava (Manihot esculenta). They do not have nodes and internodes like true tubers but instead store nutrients in their fleshy tissues.
While plant tubers may not have a direct medical definition, they are essential to human health and nutrition. Many tuber crops provide important sources of carbohydrates, vitamins, minerals, and other nutrients in diets around the world.
Darier's disease
... which is why the condition is also referred to as Darier-White disease. Linear Darier disease List of cutaneous conditions ... Darier's disease was first described by the dermatologist Ferdinand-Jean Darier in the French dermatological journal Annales de ... "Darier disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved ... ISBN 0-7817-3063-5. Sehgal, V. N.; Srivastava, G. (2005). "Darier's (Darier-White) disease/keratosis follicularis". ...
Darier's sign
This is a result of compression of mast cells, which are hyperactive in these diseases. These mast cells release inflammatory ... Darier's sign is named after the French dermatologist Ferdinand-Jean Darier (1856-1938) who first described it. Dermatographic ... Darier's sign is a change observed after stroking lesions on the skin of a person with systemic mastocytosis or urticaria ...
Psorosperm
"Arch Derm Syphilol -- Excerpt: KERATOSIS FOLLICULARIS (DARIER'S DISEASE) A VITAMIN A DEFICIENCY DISEASE, February 1941, PECK et ... Psorosperm was at one point believed to be the cause of Darier's disease. "Psorospermiasis" is classified under 136.4 in ICD-9 ... F. J. Darier. De la psorospermose folliculaire végétante. Étude anatomo-pathologique d'une affection cutanée non décrite ou ...
Gustave Roussy
It is a disease of the peripheral nervous system, caused by a mutation in one of two myelin genes. Roussy and Lévy published ... Named with Ferdinand-Jean Darier. "Dejerine-Roussy syndrome": a syndrome caused by lesions of the posterior thalamus. It occurs ... A hereditary disease that is usually first noticed in infancy. Named with Dr. Gabrielle Lévy. Les psychonévroses de guerre, ... "Roussy-Lévy disease": spinocerebellar degeneration with muscular atrophy of the lower limbs, sensory ataxia, plus other ...
Brian V. Jegasothy
Jegasothy, Brian V.; Humeniuk, John M. (1981). "Darier's Disease: A Partially Immunodeficient State". Journal of Investigative ... technique used to treat serious cases of cutaneous T-cell lymphoma He also aided in the study of immunobullous diseases, which ... ". "Researchers: Anti-Rejection Drug Promising for Immune Disease". Associated Press. "University Times » Obituary: Brian V. ...
Leukonychia
It may be associated with Darier's disease. It is harmless and most commonly caused by minor injuries, such as nail biting, or ... "Pictures of Nail Diseases and Problems - Leukonychia Striata". Huang, T.-C.; Chao, T.-Y. (14 December 2009). "Mees lines and ... Baran R, de Berker DA, Holzberg M, Thomas L (2012). Baran and Dawber's Diseases of the Nails and their Management. John Wiley ... Meyer, Bhika (November 2014). "Nails as Indicators of Disease" (PDF). Science of Medicine and Art of Care - via Tibb Institute ...
Ferdinand-Jean Darier
Darier discovered several diseases, most notably Darier's disease, a peculiar figurate erythema,[clarification needed] which he ... The other diseases were a follicular keratosis (Darier-White syndrome), dermatofibrosarcoma (Darier-Ferrand disease), erythema ... Darier's sign observed in mastocytosis. From 1909 to 1922, Darier was head of the clinical department at the Hôpital Saint- ... Ferdinand-Jean Darier (26 April 1856 - 1938) was a French physician, pathologist and dermatologist called the "father of modern ...
List of pathologists
Ferdinand-Jean Darier (1856-1938), French pathologist and dermatologist. James R. Dawson (1908-1986), American pathologist (see ... William Boog Leishman (1865-1926), English authority on the pathology of human parasitic diseases (see leishmaniasis) George ... Franz Best (1878-1920), German pathologist (see Best's disease). Xavier Bichat (1771-1802), French anatomist and physiologist, ... Adolf Weil (1848-1916), German physician and pathologist (see Weil's disease). Ronald S. Weinstein (1938-2021), American ...
Anavaj Sakuntabhai
... cause Darier disease". Nature Genetics. 21 (3): 271-7. doi:10.1038/6784. PMID 10080178. S2CID 38684482. "Integrative Biology of ... cause Darier disease". Nature Genetics. 21 (3): 271-277. doi:10.1038/6784. PMID 10080178. S2CID 38684482. Sakuntabhai, A; ... Anavaj Sakuntabhai (Thai: อนวัช ศกุนตาภัย) is a researcher specialising in human genetics of infectious diseases, notably ... In 2010 he created and became a head of the Functional Genetics of Infectious Diseases Unit. For several years, he was a ...
Progressive symmetric erythrokeratodermia
This condition is also known as Darier-Gottron syndrome, progressive symmetric erythrokeratoderma, progressive symmetric ... Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0. Kan; Chung-Hong, Hu; Woan-Ruoh, Lee (2003 ... This condition was described by Darier in 1911. It was given its present name by Grotton in 1923. Skin lesion List of cutaneous ...
Heerfordt syndrome
Darier-Roussy disease Sarcoidosis List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007 ... There are many possible causes of facial nerve palsy, including Lyme disease, HIV, Melkersson-Rosenthal syndrome, schwannoma, ... Autoimmune diseases, Syndromes affecting the eye, Facial nerve disorders, Syndromes affecting the nervous system). ...
Auspitz's sign
This is because several other diseases display the sign (including Darier's disease and actinic keratosis). Additionally, only ... It may also be seen in Darier's disease and actinic keratosis. Importantly, as with many eponymous clinical signs, Heinrich ... subsequent research has found Auspitz's sign to be of very little diagnostic value for the disease. ...
Extramammary Paget's disease
Later in 1893, Darier and Coulillaud described the perianal location of EMPD. Isrow D, Oregel KZ, Cortes J, Gomez H, Milikowski ... of all Paget's disease. The clinical presentation of this disease is similar to the characteristics of mammary Paget's disease ... The cause of the disease is still under debate with recent research indicating that the disease may be associated with Toker ... Approximately 10% of patients develop invasive adenocarcinoma that may progress to metastatic disease. The disease affects ...
Ichthyosis
"Validity of First-Time Diagnoses of Darier's Disease in the Danish National Patient Registry". Clinical Epidemiology. 13: 1063- ... Skin disease Ichthyosis en confetti List of cutaneous conditions List of cutaneous neoplasms associated with systemic syndromes ... Ichthyosis (also named fish scale disease) is a family of genetic skin disorders characterized by dry, thickened, scaly skin. ... Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin ...
Acantholytic dyskeratotic epidermal nevus
... is a cutaneous condition identical to the generalized form of Darier's disease.: 849 ...
Acrokeratosis verruciformis
Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's ... evidence that it is allelic to Darier's disease". The Journal of Investigative Dermatology. 120 (2): 229-232. doi:10.1046/j. ... the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease. List ... ISBN 978-0-07-138076-8. James WD, Berger T, Elston D (2006). Andrews' Diseases of the Skin : Clinical Dermatology (10th ed.). ...
James Clarke White (dermatologist)
White is one of the namesakes of Darier-White disease, having discovered it independently of Ferdinand-Jean Darier. He also ... "White's disease: Keratosis follicularis", Eponyms of Dermatology, American Medical Association, pp. 60-61 Shattuck, F. C. ( ...
Stomatitis nicotina
Specific conditions which can produce a similar appearance include Darier's disease, discoid lupus erythematosus, oral ... 2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. p. 800. ISBN 978-0-7216-2921-6. Werning, John W ... Vellappally, S; Fiala, Z; Smejkalová, J; Jacob, V; Somanathan, R (2007). "Smoking related systemic and oral diseases". Acta ... ISBN 978-1-60327-519-4. "Frictional, Chemical, & Thermal Keratosis, from Bond's Book of Oral Diseases, 4th Edition". The ...
ATP2A2
... also known as sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) is an ATPase associated with Darier's disease ... "Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China ...
Familial disseminated comedones without dyskeratosis
... and Darier-White disease. There is no cure for FDCWD. Treatment is aimed at controlling the comedones and preventing scarring. ... Acne vulgaris Familial dyskeratotic comedones Darier-White disease There is no cure for FDCWD. Treatment is aimed at ...
Harold Wordsworth Barber
He was among the first to use large doses of Vitamin A which he used in the treatment of Darier's disease and pityriasis rubra ... He wrote the section on skin diseases in the 12th edition of Taylor's Practice of Medicine (1922), edited by E. P. Poulton. In ... Barber, H. W. (28 February 1927). "The relationship of dental infection to diseases of the skin". Proceedings of the Royal ... he studied dermatology for most of a year in Paris under Darier at Hôpital Saint-Louis and then briefly studied in Hamburg ...
Raymond Sabouraud
Gruby-Sabouraud disease: a disease caused by Microsporon audouini. named with microbiologist David Gruby (1810-1898) ... With Ferdinand-Jean Darier (1856-1938) and Henri Gougerot (1881-1955), he was the editor of an eight-volume encyclopedia of ... He was well known for his knowledge of scalp diseases, and had a clinic which attracted patients from all over the world. He ... a congenital disease with early progressive loss of hair Sabouraud-Noiré instrument: a dosimeter that measures the quantity of ...
Ultraviolet
Darier's disease, Kindler-Weary syndrome and Porokeratosis. The eye is most sensitive to damage by UV in the lower UV‑C band at ... January 2018). "Far-UVC light: A new tool to control the spread of airborne-mediated microbial diseases". Scientific Reports. 8 ... Ultraviolet radiation can aggravate several skin conditions and diseases, including systemic lupus erythematosus, Sjögren's ...
Adapalene
Darier disease, photoaging, pigmentary disorders, actinic keratoses and alopecia areata. Adapalene is known to cause mild ...
Hereditary leiomyomatosis and renal cell cancer syndrome
Von Hippel-Lindau disease Birt-Hogg-Dube syndrome Tolvanen, J.; Uimari, O.; Ryynanen, M.; Aaltonen, L. A.; Vahteristo, P. (2012 ... A pseudo-Darier sign may be present. The renal cell carcinoma tends to be of the papillary (type 2) form and tends to occur ... Other relatively rare conditions have been reported in association with this disease. It is not yet known if these associations ... A case of cutis verticis gyrata, disseminated collagenoma and Charcot-Marie-Tooth disease in association with a mutation in the ...
Onychauxis
Darier's disease, psoriasis, or pityriasis rubra pilaris, or, in some cases, hereditary.: 783 Onycholysis List of cutaneous ... conditions James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed ...
Celalettin Muhtar Ozden
In 1889, he was sent to Hôpital Saint-Louis in Paris to carry out his studies on skin and syphilitic diseases and worked with ... famous dermatologists such as Jean Alfred Fournier, Émile Vidal, Ferdinand-Jean Darier, Ernest Besnier, and François Henri ... Muhtar was a prominent lecturer for his students as well as physicians for 32 years, lecturing on skin diseases and syphilis. ... In this congress, various dermatological diseases such as lichen, pityriasis rubra pilaris, pemphigus, trichophytosis, syphilis ...
Grenz rays
They have been reported to be helpful for lichen planus, Grover's disease, Darier's disease, Hailey-Hailey disease and ... "Hailey-Hailey Disease" in Treatment of Skin Disease: Comprehensive Therapeutic Strategies, 3rd Ed., edited by MG. Lebwohl, WR. ... Olivo MP :Grenz ray treatment of Benign Skin Diseases Chapter 5 Radiation treatment and Radiation Reactions in Dermatology ... histiocytosis X. Grenz rays have also been used for treatment of actinic keratosis and Bowen's disease. Dermatitis Lewis H: ...
Keratosis follicularis
... may refer to: Darier's disease Focal palmoplantar keratoderma with oral mucosal hyperkeratosis See also ...
Alain Viel
... and Darier's disease, characterized by blisters resulting from the loss of cell adhesion in the supra-basal layers. He is a ... He also studies the perturbation of hDlg distribution in two skin disease: psoriasis, characterized by a hyper-proliferation of ...
Darier's disease - Wikipedia
... which is why the condition is also referred to as Darier-White disease. Linear Darier disease List of cutaneous conditions ... Dariers disease was first described by the dermatologist Ferdinand-Jean Darier in the French dermatological journal Annales de ... "Darier disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved ... ISBN 0-7817-3063-5. Sehgal, V. N.; Srivastava, G. (2005). "Dariers (Darier-White) disease/keratosis follicularis". ...
Darier disease: MedlinePlus Genetics
Darier disease is a skin condition characterized by wart-like blemishes on the body. Explore symptoms, inheritance, genetics of ... The worldwide prevalence of Darier disease is unknown. The prevalence of Darier disease is estimated to be 1 in 30,000 people ... medlineplus.gov/genetics/condition/darier-disease/ Darier disease. ... Calcium pumps and keratinocytes: lessons from Dariers disease and Hailey-Hailey disease. Br J Dermatol. 2004 May;150(5):821-8 ...
Keratosis Follicularis (Darier Disease): Background, Pathophysiology, Epidemiology
... or Darier-White disease, is an autosomal dominantly inherited genodermatosis characterized by greasy hyperkeratotic papules in ... Diseases & Conditions Keratosis Follicularis (Darier Disease) * 2003/viewarticle/do-statins-have-effect-severe-disease-people- ... Darier disease). [3, 4] A wide variety of ATP2A2 mutations in Darier disease have been identified. [5, 6, 7, 8, 9, 10, 11, 12, ... Keratosis follicularis (Darier disease) occurs worldwide. The prevalence of keratosis follicularis (Darier disease) has been ...
Diclofenac sodium 3% gel for darier's disease treatment
Dariers disease (DD) is an autosomal dominant skin disorder which causative gene, ATP2A2, is located atchromosome 12q23-24. ... We report a 33-year-old patient with Dariers Disease. He was followed in our department since 2009, and we had tried to ... The most common complaint associated with the disease is itching, with exacerbations attributed to heat, sweating, sunlight, ... Background: Dariers disease (DD) is an autosomal dominant skin disorder which causative gene, ATP2A2, is located atchromosome ...
Keratosis Follicularis (Darier Disease): Background, Pathophysiology, Epidemiology
... or Darier-White disease, is an autosomal dominantly inherited genodermatosis characterized by greasy hyperkeratotic papules in ... Diseases & Conditions Keratosis Follicularis (Darier Disease) * 2003/viewarticle/do-statins-have-effect-severe-disease-people- ... Darier disease). [3, 4] A wide variety of ATP2A2 mutations in Darier disease have been identified. [5, 6, 7, 8, 9, 10, 11, 12, ... Keratosis follicularis (Darier disease) occurs worldwide. The prevalence of keratosis follicularis (Darier disease) has been ...
Darier disease | Contact
A description of Darier disease with information on symptoms, causes and treatment. ... Darier disease. Also known as: Darier-White disease; Keratosis Follicularis. Overview. Darier disease is a genetic skin ... Individuals with Darier disease are often susceptible to both bacterial and viral skin infections. Usually Darier disease is ... Darier disease is caused by a change (mutation) involving the ATP2A2 gene. The mutation in ATP2A2 is usually inherited from a ...
Darier Disease | Leafy DOC
Cannabis may offer relief from the symptoms of Darier Disease. Learn more about the potential benefits of using cannabis to ... What is Darier Disease?. Darier disease is a rare skin condition characterized by wart-like blemishes on the body. The bumps ... Other symptoms of Darier disease include red and white streaks in the nails with a brittle texture and small pits in the palms ... Signs of Darier disease usually appear in late childhood to early adulthood. The severity can vary over time, with occasional ...
Keratosis Follicularis (Darier Disease): Background, Pathophysiology, Epidemiology
... or Darier-White disease, is an autosomal dominantly inherited genodermatosis characterized by greasy hyperkeratotic papules in ... encoded search term (Keratosis Follicularis (Darier Disease)) and Keratosis Follicularis (Darier Disease) What to Read Next on ... Beier C, Kaufmann R. Efficacy of erbium:YAG laser ablation in Darier disease and Hailey-Hailey disease. Arch Dermatol. 1999 Apr ... Calcium pumps and keratinocytes: lessons from Dariers disease and Hailey-Hailey disease. Br J Dermatol. 2004 May. 150(5):821-8 ...
Keratosis Follicularis (Darier Disease) Medication: Retinoid-like Agents
... or Darier-White disease, is an autosomal dominantly inherited genodermatosis characterized by greasy hyperkeratotic papules in ... encoded search term (Keratosis Follicularis (Darier Disease)) and Keratosis Follicularis (Darier Disease) What to Read Next on ... Beier C, Kaufmann R. Efficacy of erbium:YAG laser ablation in Darier disease and Hailey-Hailey disease. Arch Dermatol. 1999 Apr ... Calcium pumps and keratinocytes: lessons from Dariers disease and Hailey-Hailey disease. Br J Dermatol. 2004 May. 150(5):821-8 ...
A case of unilateral Darier's disease<...
Isotani T, Kimura N, Shigyou A, Kiryu H, Furue M. A case of unilateral Dariers disease. Nishinihon Journal of Dermatology. ... Isotani, T, Kimura, N, Shigyou, A, Kiryu, H & Furue, M 2018, A case of unilateral Dariers disease, Nishinihon Journal of ... Isotani, T., Kimura, N., Shigyou, A., Kiryu, H., & Furue, M. (2018). A case of unilateral Dariers disease. Nishinihon Journal ... A case of unilateral Dariers disease. / Isotani, Tomoyo; Kimura, Nanae; Shigyou, Akari et al. In: Nishinihon Journal of ...
Red, white and blues: Darier disease and mood disorder - Affiliated Dermatology
Darier disease, as the disorder is clinically known, is an inherited skin condition characterized by wart-like blemishes on the ... Click the link to read the full excerpt from British Medical Journal: Red, white and blues Darier disease and mood disorder. ... Red, white and blues: Darier disease and mood diso. March 15, 2022 Leave a comment ...
6 Things Your Nails Say About Your Health
6. Darier disease. Darier disease is a rare genetic disorder that causes a skin rash and appears mostly in adolescence. It ... 5. Kidney disease. Several nail changes can indicate the presence of acute or chronic kidney disease, Dr. Poblete-Lopez says:. ... Ridged nails: Also called koilonychia, rough nails with ridges can exist in the presence of kidney disease. These nails are ... White streaks/spots: Similar to psoriasis cases, distinct white streaks and spots on nails can point to chronic kidney disease. ...
New mutations of Darier disease in Tunisian patients. - RIIP - Réseau International des Instituts Pasteur
... also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by ... 2 gene underlie the disease. In the present study, we performed genetic investigation of three unrelated Tunisian families ... provide further evidence for the genetic heterogeneity of DD in Tunisia and that most mutations involved in this disease are ... Dariers disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant ...
Contraindications to Vaccination | Smallpox | CDC
Darier disease (keratosis follicularis). X. X. X. Conditions associated with immunosuppression such as: *HIV/AIDS ... Known underlying heart disease (e.g., coronary artery disease or cardiomyopathy). X. X. ... Content source: Centers for Disease Control and Prevention, National Center for Emerging and Zoonotic Infectious Diseases ( ... but who have graft-versus-host disease or disease relapse. X. X. X. ...
Clinical Review: Topical Retinoids
Dye Laser Treatment for Darier Disease: Results of a Case Series - Gild-ftp | Gruppo Italiano Laser Dermatologia
Ingrown Hair Removal Treatment, Home Remedies, Types, Pictures
Keratosis follicularis (Darier disease). *Kyrle disease. *Lichen nitidus. *Lichen spinulosus. *Perforating folliculitis ... Staphylococcus or staph is a group of bacteria that can cause a multitude of diseases. Staph infections can cause illness ... There are many causes of itching including infection (jock itch, vaginal itch), disease (hyperthyroidism, liver or kidney), ...
Search Results: Breast, Rash or multiple lesions
Dr. Elie Lowenstein, MD, Dermatologist - Oceanside, NY | Sharecare
Darier Disease ... diseaseUnderstanding and treating Crohns diseaseYou are more ... Alzheimers diseaseAnemiaArthritisAsthmaAutismBipolar disorderBreast cancerCancerConstipationCOPDCoronavirusCrohns disease ... Alzheimers diseaseMental healthAsthmaMigrainesBreast cancerMultiple sclerosisCancerParkinsons diseaseCoronavirusPsoriasis ... Alzheimers diseaseMental healthAsthmaMigrainesBreast cancerMultiple sclerosisCancerParkinsons diseaseCoronavirusPsoriasis ...
38 CFR § 4.118 - Schedule of ratings-skin. | Electronic Code of Federal Regulations (e-CFR) | US Law | LII / Legal Information...
7824 Diseases of keratinization (including icthyoses, Dariers disease, and palmoplantar keratoderma). Evaluate under the ... Treatment failure is defined as either disease progression, or less than a 25 percent reduction in the extent and severity of ... 7820 Infections of the skin not listed elsewhere (including bacterial, fungal, viral, treponemal, and parasitic diseases). ... 7821 Cutaneous manifestations of collagen-vascular diseases not listed elsewhere (including scleroderma, calcinosis cutis, ...
Wisdom Panel™ Premium dog DNA test | Most accurate breed detection
Darier Disease (Discovered in the Irish Terrier) Darier Disease is a skin disorder characterized by cysts forming in the skin ... Alexander Disease Alexander disease is a rare, fatal neurological disease, causing progressive weakness in all limbs. ... Glycogen Storage Disease Type Ia (Discovered in the German Pinscher) Glycogen Storage Disease Type Ia (GSD Ia) is a severe ... Startle Disease, also known as hyperekplexia, is a rare muscle cramping disorder. Signs of the disease can be seen in very ...
Parents claim son's bullying was recorded by teens, ignored by Pass High leaders. Now they're filing suit.
Skin Genetic Diseases: Keratosis, Epidermolysis Bullosa, Lamellar Ichthyosis | Dr. Cameron Rokhsar
Darier-White disease: Also known as, keratosis follicularis. It is characterized by abnormal hardening of skin cells on the ... Skin Genetic Diseases: Keratosis, Epidermolysis Bullosa, Lamellar Ichthyosis. Skin Genetic Diseases: Keratosis, Epidermolysis ... except with Darier-White disease, it happens in other places along the skin. ...
Chang-Xing Li - Articles - Scientific Research Publishing
1997-63-5 - Indian Journal of Dermatology, Venereology and Leprology
Indian Journal of Dermatology: Table of Contents
Hypertrophic Dariers Disease. p. 32. Senthil K Kumar, G Sentamilselvi, Kiruba Mohan. A 30 year old female presented with ... Biopsy of the vulval growth revealed it to be Dariers disease. This case is being reported for the rare occurrence of ... Dermatological Disease Pattern In An Urban Institution Of Kolkata. p. 22. Arup Das, Saswati Haldar, Jayasri Das, Gautam ... Eczema (31.4%), pyoderma (14.36%), fungal infection (9.7%) and psoriasis (5.39%) were the major skin disease. In the leprosy ...
![Lam M[au] - Search Results - PubMed](data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAMAAAAoLQ9TAAAARVBMVEVHcEwoU45gYmYAUpQAUpRPYGVgYmZLXnJgYmYAUZUAUpRJXnIAUpQAUpRgYmYAUpRgYmZgYmZhYmYAUpQAUpQAUpRgYmaDiPJuAAAAFXRSTlMADOJ+6QewGO8/uTRqtH7GdFJ11p1bCL3TAAAAZUlEQVQYlV2PVw7AIAxDTeney7n/UcsoldX3E+VJOAboEi7MBpHWMs1ADlG8u7UYWauwyZFeRQVPOhG2o+aiwhByJxUx91Jxhje3iJSqGfHuLKI0+0TpXvY1twCOPlFh5pa/++MB0vIOBm+1zaoAAAAASUVORK5CYII=)
Lam M[au] - Search Results - PubMed
KeratosisATP2A2Darier's DiseasePsoriasisGeneWhite streaksSERCA2MildBenign familial pemphigusTunisianMutationsAbnormalitiesSegmentalDermatologistHopfCenters for DiseasClinicalFingernailsAcrokeratosis verruciformisRidgesSkin infectionsGeneticsDermatologyInfectionsMolecularSystemicNailPatientsCoronary arteryDisorderChronic kidneyResearchersMutantConditionCutaneousLiteratureAcute
Keratosis15
- Keratosis follicularis, also known as Darier disease (DD) or Darier-White disease, is an autosomal dominantly inherited genodermatosis characterized by greasy hyperkeratotic papules in seborrheic regions, nail abnormalities, and mucous membrane changes. (medscape.com)
- White was first to recognize the genetic nature of keratosis follicularis (Darier disease) by noticing that a mother and her daughter were affected. (medscape.com)
- Mutations in the gene ATP2A2 cause keratosis follicularis (Darier disease). (medscape.com)
- Although more than 120 familial and sporadic mutations in ATP2A2 have been identified in keratosis follicularis (Darier disease) patients, attempts at genotype-phenotype correlation have not been successful. (medscape.com)
- Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease, suggesting that other genes or environmental factors affect the expression of keratosis follicularis (Darier disease). (medscape.com)
- [ 22 ] Investigators transfected a fibroblast cell line with 51 different mutations seen in keratosis follicularis (Darier disease) pedigrees. (medscape.com)
- Abnormal keratinocyte-keratinocyte adhesion and aberrant epidermal keratinization are the primary histologic features of keratosis follicularis (Darier disease). (medscape.com)
- [ 23 ] However, a significant correlation exists between the clinical presentation of keratosis follicularis (Darier disease) and the intensity of histologic features. (medscape.com)
- Some studies of keratosis follicularis (Darier disease) have suggested that alterations in calcium regulation may affect the synthesis, folding, or trafficking of desmosomal proteins. (medscape.com)
- [ 25 ] In particular, studies have revealed that keratosis follicularis (Darier disease) keratinocytes displayed abnormal trafficking of the desmosomal protein desmoplakin and abnormal expression of cytokeratins 10 and 14. (medscape.com)
- The goals of pharmacotherapy for keratosis follicularis (Darier disease) are to reduce morbidity and prevent complications. (medscape.com)
- Its mechanism of action on keratosis follicularis (Darier disease) is unknown. (medscape.com)
- Darier's disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (central trunk, flexures, scalp, and forehead). (hal.science)
- Darier-White disease: Also known as, keratosis follicularis . (cosmeticlaserskinsurgery.com)
- Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. (intelligentdental.com)
ATP2A222
- In 30 to 79% of patients Abnormal hair morphology Acne conglobata Typically described as cystic acne Mutations in a single gene, ATP2A2, are responsible for the development of Darier's disease. (wikipedia.org)
- A large number of mutant alleles of ATP2A2 have been identified in association with Darier's Disease. (wikipedia.org)
- Variants (also called mutations) in the ATP2A2 gene cause Darier disease. (medlineplus.gov)
- The linear form of Darier disease is caused by ATP2A2 gene variants that are acquired during a person's lifetime and are present only in certain cells. (medlineplus.gov)
- Because the disease-causing mutations in ATP2A2 affect functional domains of the gene, the mechanism of autosomal dominant transmission is believed to be haploinsufficiency, in which a single wild-type functioning ATP2A2 is insufficient to prevent disease. (medscape.com)
- Background: Darier's disease (DD) is an autosomal dominant skin disorder which causative gene, ATP2A2, is located atchromosome 12q23-24. (cdlib.org)
- Darier disease is caused by a change (mutation) involving the ATP2A2 gene. (contact.org.uk)
- Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. (medscape.com)
- Onozuka T, Sawamura D, Yokota K, Shimizu H. Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability. (medscape.com)
- Novel splice-site and frameshift ATP2A2 mutations in Chinese patients with Darier disease. (medscape.com)
- Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease. (medscape.com)
- Godic A, Strazisar M, Zupan A, Korosec B, Kansky A, Glavac D. Darier disease in Slovenia: spectrum of ATP2A2 mutations and relation to patients' phenotypes. (medscape.com)
- Huo J, Liu Y, Ma J, Xiao S. A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease. (medscape.com)
- A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease. (medscape.com)
- The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation. (medscape.com)
- Ueo D, Hamada T, Hashimoto T, Hatano Y, Okamoto O, Fujiwara S. Late-onset Darier's disease due to a novel missense mutation in the ATP2A2 gene: a different missense mutation affecting the same codon has been previously reported in acrokeratosis verruciformis. (medscape.com)
- Novel ATP2A2 mutations in a large sample of individuals with Darier disease. (medscape.com)
- Pengjun Z, Jianwen R, Biao Y. A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease. (medscape.com)
- Miyabe C, Mitsuhashi Y, Saito M, Tsuboi R. Novel mutation in the ATP2A2 gene in a Japanese Darier's disease patient with extremely hyperkeratotic lesions. (medscape.com)
- Exon 12 of the ATP2A2 gene in patients with Darier disease: one novel mutation and one previously described. (medscape.com)
- Pathogenic mutations in the ATP2A2 gene encoding the sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase (SERCA) 2 gene underlie the disease. (hal.science)
- Dhitavat J et al (2003) Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. (altmeyers.org)
Darier's Disease9
- Darier's disease (DAR) is a rare, inherited skin disorder that presents with multiple greasy, crusting, thick brown bumps that merge into patches. (wikipedia.org)
- The most common complaint associated with the disease is itching, with exacerbations attributed to heat, sweating, sunlight, lithium, steroid therapy, stress, and menstruationObjectives: We report a patient with DD treated with topical diclofenac sodium 3%.Methods: We report a 33-year-old patient with Darier's Disease. (cdlib.org)
- Can medical cannabis help Darier's Disease? (leafydoc.com)
- Medicinal marijuana is also known for its anti-inflammatory properties for the skin, which can help with Darier's disease. (leafydoc.com)
- Identification of a novel mutation in a Chinese patient with mild Darier's disease. (medscape.com)
- Based on the clinical and histological findings, we diagnosed the patient as having unilateral Darier's disease. (elsevierpure.com)
- Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature. (nih.gov)
- Acantholysis or dyskeratosis are absent (in contrast to Darier's disease). (altmeyers.org)
- Hopf G (1932) On the keratoses occurring in Darier's disease on the hands and feet. (altmeyers.org)
Psoriasis2
- Similar to psoriasis cases, distinct white streaks and spots on nails can point to chronic kidney disease. (clevelandclinic.org)
- Eczema (31.4%), pyoderma (14.36%), fungal infection (9.7%) and psoriasis (5.39%) were the major skin disease. (e-ijd.org)
Gene2
- As a research and healthcare Institute, Imagine focuses on a wide variety of genetic diseases, studying all aspects of from basic research to translational medicine with an ultimate aim of developing new approaches to therapy including gene therapy and gene editing. (institutimagine.org)
- Genetics of Mitochondrial Disorders / Disease gene identification using omics technologies, pathophysiology and deciphering disease mechanisms, evidence-based clinical trials in mitochondrial diseases, gene therapy of Friedreich ataxia and POLG-related diseases. (institutimagine.org)
White streaks4
- Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet. (medlineplus.gov)
- Other symptoms of Darier disease include red and white streaks in the nails with a brittle texture and small pits in the palms and soles. (leafydoc.com)
- Darier disease causes red and white streaks on the nails and V-shaped notches to form on the tips of the nails. (msdmanuals.com)
- Patients with Darier disease can have nails with red and white streaks and a distal V-shaped nick. (msdmanuals.com)
SERCA22
- In a different study, in which researchers systematically analyzed mutations identical to those found in patients with Darier disease, mutant SERCA2 protein aggregates were found to cause stress to the endoplasmic reticulum, subsequently inducing cell apoptosis. (medscape.com)
- Protein aggregation of SERCA2 mutants associated with Darier disease elicits ER stress and apoptosis in keratinocytes. (medscape.com)
Mild5
- Mild forms of the disease are the most common, consisting solely of skin rashes that flare up under certain conditions such as high humidity, high stress, or tight-fitting clothes. (wikipedia.org)
- On occasion, people with Darier disease may have neurological disorders such as mild intellectual disabilities, epilepsy, and depression . (medlineplus.gov)
- People with Darier disease may occasionally develop a mild cognitive disability, learning and behavioral difficulties, epilepsy, and depression. (leafydoc.com)
- After surgical drainage, antimicrobial thera- mild skin infections to acute life-threatening diseases py was initiated with intravenous cefuroxime. (cdc.gov)
- Alterations in the precise, intricate dance of corneocyte production and desquamation may lead to diseases ranging from mild forms of acral peeling skin to profound disorders such as Netherton syndrome. (aad.org)
Benign familial pemphigus1
- 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)
Tunisian2
- Bchetnia M, Charfeddine C, Kassar S, Zribi H, Guettiti HT, Ellouze F. Clinical and mutational heterogeneity of Darier disease in Tunisian families. (medscape.com)
- New mutations of Darier disease in Tunisian patients. (hal.science)
Mutations3
- Significant variability in disease severity between members of the same family carrying the same mutation was also reported by this study, suggesting that genetic modifiers contribute to the phenotypic penetrance of certain mutations. (wikipedia.org)
- However, there is significant variability in disease severity in how the mutations are expressed even within families that have the same mutation. (wikipedia.org)
- Our findings provide further evidence for the genetic heterogeneity of DD in Tunisia and that most mutations involved in this disease are family specific. (hal.science)
Abnormalities1
- Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body. (medlineplus.gov)
Segmental3
- A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin. (medlineplus.gov)
- Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease. (medscape.com)
- Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues. (medscape.com)
Dermatologist2
- It is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier. (wikipedia.org)
- Property "Glossary-Definition" (as page type) with input value "is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier. (dermoscopedia.org)
Hopf2
- Pro602Leu) mutation differentiates acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. (medscape.com)
- Sun CW et al (2020) Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease. (altmeyers.org)
Centers for Diseas3
- Centers for Disease Control and Prevention. (cdc.gov)
- The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
- Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
Clinical4
- Clinical symptoms of the disease:[citation needed] Seborrhoeic areas This is defined as areas where excess oil and sebum is released. (wikipedia.org)
- Usually Darier disease is diagnosed by its clinical appearance, family history and a skin biopsy (removal of skin tissue for examination). (contact.org.uk)
- Institut Imagine (Institute for Genetic Diseases) is inviting applications for group leader positions in multiple fields corresponding to already existing integrated clinical and scientific programs. (institutimagine.org)
- Their projects are deeply entangled with clinical units and referral centres for rare diseases affiliated to the institute. (institutimagine.org)
Fingernails2
- Fragile or poorly formed fingernails Nail disease leading to V-shaped nicks at the edge of the nail. (wikipedia.org)
- The process, keratinization, is the same as well healthy skin cells are converted into fingernails, except with Darier-White disease, it happens in other places along the skin. (cosmeticlaserskinsurgery.com)
Acrokeratosis verruciformis1
- Hafner O et al (1997) Acrokeratosis verruciformis-like changes in Darier disease. (altmeyers.org)
Ridges1
- Also called koilonychia, rough nails with ridges can exist in the presence of kidney disease. (clevelandclinic.org)
Skin infections2
- Individuals with Darier disease are often susceptible to both bacterial and viral skin infections. (contact.org.uk)
- It is commonly used for treating and healing infections including gum disease, acne and other skin infections. (zenmed.com)
Genetics2
- Although advances in molecular genetics have revolutionized our understanding of the pathogenesis of disease, the road to developing topical therapies based on these discoveries is in its infancy. (aad.org)
- The Institute includes over 600 staff members in 28 laboratories organized in integrated care and research programs addressing genetics, immunology and infectious diseases, haematology, nephrology, developmental defects, neurosciences and bioinformatics. (institutimagine.org)
Dermatology1
- Retinoids in the treatment of skin diseases in the light of the data of the Dermatology Clinic, Medical Academy, in Lódz]. (globale-dermatologie.com)
Infections1
- Drugs, infections, and diseases can cause discoloration of the nails (chromonychia). (msdmanuals.com)
Molecular1
- Molecular characterization of 11 Italian patients with Darier disease. (medscape.com)
Systemic2
- Cutaneous manifestations of systemic disease may be the initial complaint that causes patients to seek out a healthcare provider. (medscape.com)
- SSc is a systemic connective tissue disease characterized by vasomotor instability, fibrosis, and immunologic disturbances, as well as by atrophy of the skin, subcutaneous tissue, muscles, and internal organs. (medscape.com)
Nail1
- however, this nail abnormality has been reported in various other chronic diseases including Crohn disease, cirrhosis, pellagra, and Kawasaki disease. (msdmanuals.com)
Patients7
- Can medical marijuana help patients with symptoms of Darier Disease? (leafydoc.com)
- Le pourcentage de CD44 dans les lymphocytes T périphériques était significativement plus élevé chez les patients que chez les témoins, comme détecté par la cytométrie en flux. (who.int)
- En outre, il y avait une aug- mentation significative de la forme soluble du c-kit dans le sérum des patients atteints de pemphigus vulgaire actif par rapport aux témoins. (who.int)
- Parallel to these changes there was a considerable improvement in the disease activity in all aspirin- treated patients, as well significant repigmentation in two at the end of the study period. (e-ijd.org)
- Treatment of severe acne with isotretinoin in patients with inflammatory bowel disease. (globale-dermatologie.com)
- NSF is a fibrotic disease of the skin and internal organs that develops in patients with renal insufficiency after exposure to gadolinium-based contrast agents (GBCAs). (medscape.com)
- That same day, he was transferred infection control practices when examining and treating to hospital B, a tertiary care referral hospital, for neurologic patients with suspected infectious diseases. (cdc.gov)
Coronary artery1
- Infection hypertension, coronary artery disease, and noninsulin- dependent diabetes mellitus. (cdc.gov)
Disorder1
- Darier disease is a rare genetic disorder that causes a skin rash and appears mostly in adolescence. (clevelandclinic.org)
Chronic kidney1
- Chronic Kidney Disease Chronic kidney disease (CKD) is long-standing, progressive deterioration of renal function. (msdmanuals.com)
Researchers1
- Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental. (medlineplus.gov)
Mutant1
- This also means that someone who is born to one parent with DAR has a 50% chance of inheriting the mutant allele and having the disease. (wikipedia.org)
Condition3
- Darier disease is a skin condition characterized by wart-like blemishes on the body. (medlineplus.gov)
- Darier disease is a genetic skin condition. (contact.org.uk)
- Darier Disease - A Multi-organ Condition? (medicaljournalssweden.se)
Cutaneous1
- Cutaneous leishmaniasis (CL) is an endemic disease in Iraq that is caused by protozoan infection. (bvsalud.org)
Literature2
- Currently, no cases of people with the linear form of Darier disease passing it on to their children have been reported in the scientific literature. (medlineplus.gov)
- Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases. (cdc.gov)
Acute1
- These side-to-side lines can be a symptom of acute kidney disease. (clevelandclinic.org)
