Erythrokeratodermia Variabilis
Hyperkeratosis, Epidermolytic
Erythema
Skin Diseases, Genetic
Connexins
Genetic Heterogeneity
Dermacentor
Anabaena
Familial erythrokeratodermia variabilis with pustular lesions: a new variant? (1/5)
(+info)p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis. (2/5)
(+info)Connexins in epidermal homeostasis and skin disease. (3/5)
(+info)Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death. (4/5)
(+info)Progressive symmetrical erythrokeratodermia -- case report. (5/5)
(+info)Erythrokeratodermia variabilis is a rare genetic skin disorder characterized by the development of scaly, thickened (hyperkeratotic) patches of skin that are often red (erythematous). These patches can change in size, shape, and location over time, and may be triggered or worsened by heat, cold, emotional stress, or physical trauma. The condition typically begins in infancy or early childhood and affects both sexes equally.
Erythrokeratodermia variabilis is caused by mutations in the GJB3 or GJB4 gene, which provide instructions for making proteins called connexins that are important for normal skin function. These genetic changes lead to abnormal communication between skin cells, resulting in the characteristic symptoms of the condition.
The disorder is usually inherited in an autosomal dominant pattern, meaning that a child can inherit the condition from one affected parent. However, some cases may be due to new mutations in the gene and occur in people with no family history of the disorder.
There is no cure for erythrokeratodermia variabilis, but treatment can help alleviate symptoms. Treatment options include topical medications such as emollients, keratolytics, and corticosteroids to moisturize and soften the skin, reduce inflammation, and remove excess scales. Systemic treatments such as retinoids or methotrexate may be used in severe cases.
Epidermolytic hyperkeratosis (EH) is a rare genetic skin disorder characterized by the abnormal growth and accumulation of keratin, a protein found in the outermost layer of the skin (epidermis). This condition results in widespread blistering and peeling of the skin, particularly in areas prone to friction such as the hands, feet, knees, and elbows.
EH is caused by mutations in the KRT1 or KRT10 genes, which provide instructions for making keratin proteins that are essential for maintaining the structure and integrity of the epidermis. When these genes are mutated, the keratin proteins become unstable and form clumps, leading to the formation of blisters and areas of thickened, scaly skin (hyperkeratosis).
EH is typically present at birth or appears in early childhood, and it can range from mild to severe. In addition to the skin symptoms, individuals with EH may also experience nail abnormalities, hair loss, and an increased risk of skin infections. Treatment for EH is focused on managing symptoms and preventing complications, and may include topical creams or ointments, wound care, and protection from friction and injury.
Erythema is a term used in medicine to describe redness of the skin, which occurs as a result of increased blood flow in the superficial capillaries. This redness can be caused by various factors such as inflammation, infection, trauma, or exposure to heat, cold, or ultraviolet radiation. In some cases, erythema may also be accompanied by other symptoms such as swelling, warmth, pain, or itching. It is a common finding in many medical conditions and can vary in severity from mild to severe.
Keratosis, in general, refers to a skin condition characterized by the abnormal growth or development of keratin, a protein that forms part of the outer layer of the skin (epidermis). There are several types of keratosis, including:
1. Seborrheic Keratosis: benign, often pigmented, rough, and scaly growths that can appear anywhere on the body. They tend to increase in number with age.
2. Actinic Keratosis: rough, scaly patches or spots on the skin that are caused by long-term exposure to sunlight or artificial UV light. These have the potential to develop into squamous cell carcinoma, a type of skin cancer.
3. Solar Keratosis: another term for actinic keratosis, as it is primarily caused by sun damage.
4. Keratosis Pilaris: a common condition where small, rough bumps appear on the skin, often on the arms, thighs, or cheeks. These are caused by excess keratin blocking hair follicles.
5. Follicular Keratosis: a disorder characterized by the formation of horny plugs within the hair follicles, leading to rough, sandpaper-like bumps on the skin.
6. Intraepidermal Keratosis: a term used to describe the abnormal accumulation of keratin in the epidermis, which can lead to various skin conditions.
It's important to consult with a healthcare professional or dermatologist for proper diagnosis and treatment if you suspect having any form of keratosis.
Genetic skin diseases are a group of disorders caused by mutations or alterations in the genetic material (DNA), which can be inherited from one or both parents. These mutations affect the structure, function, or development of the skin and can lead to various conditions with different symptoms, severity, and prognosis.
Some examples of genetic skin diseases include:
1. Epidermolysis Bullosa (EB): A group of disorders characterized by fragile skin and mucous membranes that blister and tear easily, leading to painful sores and wounds. There are several types of EB, each caused by mutations in different genes involved in anchoring the epidermis to the dermis.
2. Ichthyosis: A family of genetic disorders characterized by dry, thickened, scaly, or rough skin. The severity and symptoms can vary widely, depending on the specific type and underlying genetic cause.
3. Neurofibromatosis: A group of conditions caused by mutations in the NF1 gene, which regulates cell growth and division. The most common types, NF1 and NF2, are characterized by the development of benign tumors called neurofibromas on the skin and nerves, as well as other symptoms affecting various organs and systems.
4. Tuberous Sclerosis Complex (TSC): A genetic disorder caused by mutations in the TSC1 or TSC2 genes, which control cell growth and division. TSC is characterized by the development of benign tumors in multiple organs, including the skin, brain, heart, kidneys, and lungs.
5. Xeroderma Pigmentosum (XP): A rare genetic disorder caused by mutations in genes responsible for repairing DNA damage from ultraviolet (UV) radiation. People with XP are extremely sensitive to sunlight and have a high risk of developing skin cancer and other complications.
6. Incontinentia Pigmenti (IP): A genetic disorder that affects the development and growth of skin, hair, nails, teeth, and eyes. IP is caused by mutations in the IKBKG gene and primarily affects females.
7. Darier's Disease: An inherited skin disorder characterized by greasy, crusted, keratotic papules and plaques, usually located on the trunk, scalp, and seborrheic areas of the body. Darier's disease is caused by mutations in the ATP2A2 gene.
These are just a few examples of genetic skin disorders. There are many more, each with its unique set of symptoms, causes, and treatments. If you or someone you know has a genetic skin disorder, it is essential to consult with a dermatologist or other healthcare professional for proper diagnosis and treatment.
Connexins are a family of proteins that form the structural units of gap junctions, which are specialized channels that allow for the direct exchange of small molecules and ions between adjacent cells. These channels play crucial roles in maintaining tissue homeostasis, coordinating cellular activities, and enabling communication between cells. In humans, there are 21 different connexin genes that encode for these proteins, with each isoform having unique properties and distributions within the body. Mutations in connexin genes have been linked to a variety of human diseases, including hearing loss, skin disorders, and heart conditions.
Genetic heterogeneity is a phenomenon in genetics where different genetic variations or mutations in various genes can result in the same or similar phenotypic characteristics, disorders, or diseases. This means that multiple genetic alterations can lead to the same clinical presentation, making it challenging to identify the specific genetic cause based on the observed symptoms alone.
There are two main types of genetic heterogeneity:
1. Allelic heterogeneity: Different mutations in the same gene can cause the same or similar disorders. For example, various mutations in the CFTR gene can lead to cystic fibrosis, a genetic disorder affecting the respiratory and digestive systems.
2. Locus heterogeneity: Mutations in different genes can result in the same or similar disorders. For instance, mutations in several genes, such as BRCA1, BRCA2, and PALB2, are associated with an increased risk of developing breast cancer.
Genetic heterogeneity is essential to consider when diagnosing genetic conditions, evaluating recurrence risks, and providing genetic counseling. It highlights the importance of comprehensive genetic testing and interpretation for accurate diagnosis and appropriate management of genetic disorders.
Anabaena variabilis is a species of cyanobacteria (blue-green algae) that can form filamentous colonies. It is capable of fixing atmospheric nitrogen, making it an important contributor to the nitrogen cycle in aquatic environments. The term 'variabilis' refers to the variable size and shape of its cells.
Here's a simple medical definition:
Anabaena variabilis: A species of filamentous cyanobacteria known for its ability to fix nitrogen, contributing to the nitrogen cycle in aquatic environments. Its cells can vary in size and shape.
Dermacentor is a genus of ticks that includes several species known to transmit diseases to humans and animals. Some of the notable species in this genus are:
1. Dermacentor andersoni (Rocky Mountain wood tick): This species is widely distributed across western North America and can transmit Rocky Mountain spotted fever, Colorado tick fever, and tularemia.
2. Dermacentor variabilis (American dog tick): Found throughout the United States, this tick can transmit Rocky Mountain spotted fever, tularemia, and human ehrlichiosis.
3. Dermacentor reticulatus (Ornate cow tick or Marsh tick): This species is distributed in Europe and parts of Asia and can transmit diseases like tick-borne encephalitis, louping ill, and babesiosis.
4. Dermacentor marginatus (Marginated tick): Found primarily in Europe, this tick transmits various pathogens causing diseases such as Crimean-Congo hemorrhagic fever, tick-borne encephalitis, and rickettsialpox.
5. Dermacentor nitens (Brazilian pampas tick): This species is native to South America and can transmit Rickettsia rickettsii, the bacterium that causes Rocky Mountain spotted fever.
Dermacentor ticks are known for their hard, shield-like structures called scutums on their backs and their long mouthparts called hypostomes, which they use to feed on the blood of their hosts. They typically prefer large mammals as hosts but will also feed on humans and other animals if necessary.
Anabaena is a genus of cyanobacteria, also known as blue-green algae. These bacteria are capable of photosynthesis and can form colonies that resemble fine filaments or hair-like structures. Some species of Anabaena are able to fix nitrogen from the atmosphere, making them important contributors to the nitrogen cycle in aquatic ecosystems. In some cases, certain species of Anabaena can produce toxins that can be harmful to other organisms, including humans and animals.
It's worth noting that while Anabaena is a widely used and well-established genus name, recent research has suggested that the traditional classification system for cyanobacteria may not accurately reflect their evolutionary relationships. As a result, some scientists have proposed alternative classification schemes that may lead to changes in the way these organisms are named and classified in the future.
I apologize for any confusion, but "Dahlia" is not a medical term. It is the name of a genus of flowering plants belonging to the family Asteraceae. The Dahlia is the national flower of Mexico and comes in a variety of colors, sizes, and forms. If you have any medical questions or terms, I would be happy to help clarify those for you.
Erythrokeratodermia variabilis
List of OMIM disorder codes
GJB4
GJA4
GJB5
GJB3
Erythrokeratodermia
Progressive symmetric erythrokeratodermia
Keratosis extremitatum progrediens
Erythema gyratum repens
Keratosis palmoplantaris transgrediens et progrediens
List of skin conditions
List of diseases (E)
Keratoderma
Erythrokeratodermia variabilis - Wikipedia
Erythrokeratodermia variabilis et progressiva: MedlinePlus Genetics
Erythrokeratodermia Variabilis et Progressiva: Practice Essentials, Pathophysiology, Epidemiology
Erythrokeratodermia Variabilis et Progressiva: Practice Essentials, Pathophysiology, Epidemiology
Erythrokeratodermia Variabilis et Progressiva Differential Diagnoses
Erythrokeratodermia Variabilis: A Case Report | AVESÄ°S
Erythrokeratodermia Variabilis et Progressiva : Background, Pathophysiology, Epidemiology
Kdsr MGI Mouse Gene Detail - MGI:1918000 - 3-ketodihydrosphingosine reductase
Expanded Carrier Screening | Thermo Fisher Scientific - US
1982-48-2 - Indian Journal of Dermatology, Venereology and Leprology
urofacial syndrome - Ontology Browser - Rat Genome Database
DeCS
Bio2Vec
Specific PHGKB|Rare Diseases PHGKB|PHGKB
MEDNIK syndrome (Concept Id: C1836330) - MedGen - NCBI
Hypertrichosis (Concept Id: C0020555) - MedGen - NCBI
"Epidermal acanthosis"[Clinical Features] OR 65136[uid] - MedGen -...
Kprp Mouse Gene Details | keratinocyte expressed, proline-rich | International Mouse Phenotyping Consortium
Intellectual deficit, autosomal dominant | Amedes Genetics
Treatment For Ichthyosis | Viras Homeopathy
CellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types | Genome Biology | Full Text
ARCI-lamellar type ichthyosis | Foundation for Ichthyosis & Related Skin Types, Inc.
Pesquisa | Portal Regional da BVS
Skin </span...
Porokeratosis | Colorado PROFILES
MeSH Browser
MeSH Browser
DeCS 2010 - Novos termos
PROGRESSIVA8
- Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. (medlineplus.gov)
- Therefore, it was proposed to classify this disorder as erythrokeratodermia variabilis et progressiva (EKVP). (medscape.com)
- Erythrokeratodermia variabilis et progressiva (EKVP) is usually inherited in an autosomal dominant pattern with nearly complete penetrance. (medscape.com)
- The diagnosis of erythrokeratodermia variabilis et progressiva (EKVP) is established on the basis of clinical features. (medscape.com)
- Systemic retinoids are the treatment of choice in extensive erythrokeratodermia variabilis et progressiva (EKVP). (medscape.com)
- Complications are rare with erythrokeratodermia variabilis et progressiva (EKVP). (medscape.com)
- Erythrokeratodermia variabilis et progressiva (EKVP) is an inherited disorder of cornification associated with noninflammatory erythema. (medscape.com)
- Erythrokeratodermia variabilis et progressiva (EKVP) is rare, and its accurate prevalence is not known. (medscape.com)
Figurata variabilis1
- Erythrokeratodermia variabilis (also known as "erythrokeratodermia figurata variabilis", "keratosis extremitatum progrediens", "keratosis palmoplantaris transgrediens et progrediens",: 509 "Mendes da Costa syndrome", "Mendes da Costa type erythrokeratodermia", and "progressive symmetric erythrokeratoderma") is a rare autosomal dominant disorder that usually presents at birth or during the first year of life. (wikipedia.org)
Mendes da Costa2
- Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. (wikipedia.org)
- [ 2 ] In 1925, Mendes da Costa presented a detailed clinical description of the disease in a mother and daughter, reviewed eight similar cases that were previously published, and coined the name "erythro- et keratodermia variabilis. (medscape.com)
Ichthyosis1
- MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia) syndrome: Erythema and hyperkeratosis resembling erythrokeratodermia variabilis have been reported in a novel, autosomal recessive genetic syndrome observed in the Bas St-Laurent region of Quebec. (medscape.com)
Inherited in an autosomal1
- Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. (bvsalud.org)
Symmetric erythrokeratodermia1
- Progressive symmetric erythrokeratodermia (PSEK): PSEK is considered an autosomal dominant or recessive genodermatosis with a less well-defined clinical presentation than erythrokeratodermia variabilis (EKV). (medscape.com)
Genodermatosis1
- Erythrokeratodermia variabilis is a rare genodermatosis inherited as an autosomal dominant trait and characterized by variable figurated erythematous patches and persistant hyperkeratotic plaques. (istanbul.edu.tr)
PSEK1
- There is considerable phenotypic variability of PSEK and erythrokeratodermia variabilis. (medscape.com)
Skin1
- Depending on the extent and severity of erythrokeratodermia variabilis, the skin lesions also can be severely disfiguring and have a tremendous psychosocial effect on the patients. (medscape.com)
Keratodermia variabilis2
- Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. (wikipedia.org)
- [ 2 ] In 1925, Mendes da Costa presented a detailed clinical description of the disease in a mother and daughter, reviewed eight similar cases that were previously published, and coined the name "erythro- et keratodermia variabilis. (medscape.com)
Palmoplantar keratoderma2
- Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. (nih.gov)
- Differential diagnosis includes other forms of keratinopathic ichthyosis such as epidermolytic ichthyosis, as well as epidermolytic palmoplantar keratoderma, erythrokeratodermia variabilis, and KID syndrome (see these terms). (orpha.net)
ERYTHEMA GYRATUM REPENS1
- Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. (nih.gov)
Syndrome1
- MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia) syndrome: Erythema and hyperkeratosis resembling erythrokeratodermia variabilis have been reported in a novel, autosomal recessive genetic syndrome observed in the Bas St-Laurent region of Quebec. (medscape.com)
GJB32
Mutations1
- Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. (nih.gov)