Erythrokeratodermia variabilis
- Erythrokeratodermia variabilis
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| Erythrokeratodermia variabilis |
| Classification and external resources |
| OMIM |
133200 |
Erythrokeratodermia variabilis (also known as "Erythrokeratodermia figurata variabilis," "Keratosis extremitatum progrediens," "Keratosis palmoplantaris transgrediens et progrediens,"[1]:509 "Mendes da Costa syndrome,"[2] "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.[1] To date, it is thought to be caused by mutations in genes encoding for connexin channels proteins in the epidermis, leading to the misregulation of homeostasis in keratinocytes. [3]
One type is characterized by generalized, persistent, brown hyperkeratosis with accentuated skin markings, while a second type is localized, with involvement that is limited in extent and characterized by sharply demarcated, hyperkeratotic plaques.[1][4]:565
It can be associated with GJB3[5] and GJB4.[6]
It was characterized in 1925.[7]
See also
References
- ^ a b c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ Richard, Gabriela. (2000). Exp Dermatol. Page 77-96. ISSN 0906-6705.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ Richard G, Smith LE, Bailey RA, et al. (December 1998). "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis". Nat. Genet. 20 (4): 366–9. doi:10.1038/3840. PMID 9843209.
- ^ Macari F, Landau M, Cousin P, et al. (November 2000). "Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis". Am. J. Hum. Genet. 67 (5): 1296–301. doi:10.1016/S0002-9297(07)62957-7. PMC 1288569. PMID 11017804. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62957-7.
- ^ Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. Acta Derm. Venerol. 6: 255-261, 1925.
| v · d · eGenetic disorder, membrane: Channelopathy |
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SCN1A ( Familial hemiplegic migraine 3, GEFS+ 2, Febrile seizure 3A) · SCN1B ( Brugada syndrome 6, GEFS+ 1) · SCN4A ( Hypokalemic periodic paralysis 2, Hyperkalemic periodic paralysis, Paramyotonia congenita, Potassium-aggravated myotonia) · SCN4B ( Long QT syndrome 10) · SCN5A ( Brugada syndrome 1, Long QT syndrome 3) · SCN9A ( Erythromelalgia, Febrile seizure 3B, Paroxysmal extreme pain disorder, Congenital insensitivity to pain)
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| Potassium channel |
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see also ion channels
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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Categories:
- Genodermatoses
- Palmoplantar keratodermas
- Disease stubs
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Look at other dictionaries:
erythrokeratodermia variabilis — a rare autosomal dominant condition present at birth, characterized by both transient, migratory areas of erythroderma in various shapes and fixed plaques of hyperkeratosis. Called also keratoderma palmoplantare transgrediens and keratosis… … Medical dictionary
erythrokeratodermia — A neurocutaneous syndrome characterized by papulosquamous erythematous plaques with onset shortly after birth; ataxia, nystagmus, dysarthria, and decreased tendon reflexes appear later in life; symmetrical progressive e. is inherited as an … Medical dictionary
EKV — erythrokeratodermia variabilis … Medical dictionary
keratoderma palmoplantare transgrediens — erythrokeratodermia variabilis … Medical dictionary
keratosis palmoplantaris transgrediens — erythrokeratodermia variabilis … Medical dictionary
Mendes da Costa syndrome — erythrokeratodermia variabilis … Medical dictionary
EKV — • erythrokeratodermia variabilis … Dictionary of medical acronyms & abbreviations
GJB3 — Gap junction protein, beta 3, 31kDa, also known as GJB3, is a human gene.cite web | title = Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=2707|… … Wikipedia
GJB4 — Gap junction protein, beta 4, also known as GJB4, is a human gene.cite web | title = Entrez Gene: GJB4 gap junction protein, beta 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=127534| accessdate = ] PBB … Wikipedia
Ichthyosis — Classification and external resources Ichthyosis is recognized by rough, scaly skin exhibited by patients. ICD 10 Q … Wikipedia
