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"Mendes da Costa" redirects here. For people with this name, see Mendes (name). "Mendes da Costa syndrome" redirects here. It is not to be confused with Da Costa's syndrome.
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
- List of cutaneous conditions
References
- ^ a b c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ 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 0-7216-2921-0.
- ^ 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.
- ^ Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. Acta Derm. Venerol. 6: 255-261, 1925.
UpToDate Contents
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English Journal
- Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation.
- Ikeya S, Urano S, Sakabe J, Ito T, Tokura Y.
- The Journal of dermatology.J Dermatol.2013 May;40(5):402-3. doi: 10.1111/1346-8138.12101. Epub 2013 Feb 27.
- PMID 23442023
- Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.
- Sbidian E, Bousseloua N, Jonard L, Leclerc-Mercier S, Bodemer C, Hadj-Rabia S.
- Acta dermato-venereologica.Acta Derm Venereol.2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436.
- PMID 23037955
- [Erythrokeratodermia variabilis].
- Bilan P, Levy A, Sin C, Marchal A, Sigal ML, Mahé E.SourceService de dermatologie, centre hospitalier Victor-Dupouy, 69, rue du Lieutenant-Colonel-Prudhon, 95100 Argenteuil, France.
- Annales de dermatologie et de vénéréologie.Ann Dermatol Venereol.2013 Feb;140(2):129-33. doi: 10.1016/j.annder.2012.12.006. Epub 2013 Jan 9.
- BACKGROUND: Erythrokeratodermia variabilis (EKV) is a rare genodermatosis associated with keratinisation disorders. Mutations are found in genes encoding connexin 31 and 30.3 mapped to chromosome 1 p34-35. We report two cases of EKV, one of which presented dramatic improvement with oral retinoids.PA
- PMID 23395496
Japanese Journal
- Coexistent Takayasu arteritis and erythrokeratodermia variabilis : A case report
- KORCZOWSKI BARTOSZ,RUSIN JOZEF,GRENDA RYSZARD,ANTONIEWICZ JOLANTA
- Pediatrics international : official journal of the Japan Pediatric Society 48(2), 166-168, 2006-04-01
- NAID 10018195448
- Genetic heterogeneity in erythrokeratodermia variabilis : novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations
- Erythrokeratodermia Variabilis (Mendes da Costa's Syndrome)
- 力久 航,山元 修,旭 正一
- 西日本皮膚科 = The Nishinihon journal of dermatology 62(4), 437-438, 2000-08-01
- NAID 10019142083
Related Links
- Erythrokeratodermia variabilis (EKV) is a rare genetic skin disorder listed in Online Mendelian Inheritance in Man (OMIM) # 133200. Erythrokeratodermia variabilis belongs to the clinically and genetically heterogeneous ...
- erythrokeratodermia [ĕ-rith″ro-ker″ah-to-der´-me-ah] reddening and hyperkeratosis of the skin. erythrokeratodermia varia´bilis a rare, dominantly inherited ichthyosis characterized by circumscribed areas of erythema that undergo ...
Related Pictures
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