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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]

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.

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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