Erythrokeratodermia variabilis explained

Synonyms:	Progressive symmetric erythrokeratodermia, Gottron type
Erythrokeratodermia variabilis
Onset:	Infancy

Erythrokeratodermia variabilis (also known as "erythrokeratodermia figurata variabilis", "keratosis extremitatum progrediens", "keratosis palmoplantaris transgrediens et progrediens",^[1] "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.^[3] 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.^[4]

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] [5]}

It can be associated with GJB3^[6] and GJB4.^[7] It was characterized in 1925.^[8]

See also

• List of cutaneous conditions

Notes and References

1. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. .
2. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
3. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 497. McGraw-Hill. .
4. Richard, Gabriela. (2000). Exp Dermatol. Page 77-96. ISSN 0906-6705.
5. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
6. Richard G, Smith LE, Bailey RA, etal . Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis . Nat. Genet. . 20 . 4 . 366–9 . December 1998 . 9843209. 10.1038/3840. 841727 .
7. Macari F, Landau M, Cousin P, etal . Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis . Am. J. Hum. Genet. . 67 . 5 . 1296–301 . November 2000 . 11017804 . 1288569 . 10.1016/S0002-9297(07)62957-7 .
8. Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. Acta Derm. Venerol. 6: 255-261, 1925.