Erythrokeratodermia variabilis

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Erythrokeratodermia variabilis
Synonyms Progressive symmetric erythrokeratodermia, Gottron type
Erythrokeratodermia variabilis is inherited in an autosomal dominant manner(rarely autosomal recessive)[1]
Erythrokeratodermia variabilis is inherited in an autosomal dominant manner of inheritance

Erythrokeratodermia variabilis (also known as "erythrokeratodermia figurata variabilis", "keratosis extremitatum progrediens", "keratosis palmoplantaris transgrediens et progrediens",[2]:509 "Mendes da Costa syndrome",[3] "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.[4] 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.[5]

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.[2][6]:565

It can be associated with GJB3[7] and GJB4.[8]

It was characterized in 1925.[9]

See also[edit]

References[edit]

  1. ^ "OMIM Entry - # 133200 - ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1". omim.org. Retrieved 3 September 2017. 
  2. ^ a b Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  4. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 497. McGraw-Hill. ISBN 0-07-138076-0.
  5. ^ Richard, Gabriela. (2000). Exp Dermatol. Page 77-96. ISSN 0906-6705.
  6. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  7. ^ 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. 
  8. ^ 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 1288569Freely accessible. PMID 11017804. 
  9. ^ Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. Acta Derm. Venerol. 6: 255-261, 1925.

External links[edit]

Classification
External resources