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Erythrokeratodermia variabilis

"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
NCI Erythrokeratodermia variabilis
Patient UK Erythrokeratodermia variabilis

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


  1. ^ a b c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  3. ^ Richard, Gabriela. (2000). Exp Dermatol. Page 77-96. ISSN 0906-6705.
  4. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  5. ^ 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. PMID 9843209. doi:10.1038/3840. 
  6. ^ 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. PMC 1288569. PMID 11017804. doi:10.1016/S0002-9297(07)62957-7. 
  7. ^ Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. Acta Derm. Venerol. 6: 255-261, 1925.

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