KEGG DISEASE: Erythrokeratodermia variabilis

KEGG

DISEASE: Erythrokeratodermia variabilis

Entry

H00710                      Disease

Name

Erythrokeratodermia variabilis

Description

Erythrokeratoderma variabilis is a rare genodermatosis characterized by both transient, demarcated erythema and persistent hyperkeratosis. Lesions usually appear within the first year of life but may arise later in childhood. Diffuse palmoplantar keratoderma is common. Erythrokeratodermia variabilis et progressiva (EKVP) is caused by mutations in GJB3, GJB4, and GJA1, the genes encoding for connexin channels proteins in the epidermis.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00710  Erythrokeratodermia variabilis

Gene

(EKVP1) GJB3 [HSA:2707] [KO:K07622]
(EKVP2) GJB4 [HSA:127534] [KO:K07623]
(EKVP3) GJA1 [HSA:2697] [KO:K07372]
(EKVP4) KDSR [HSA:2531] [KO:K04708]
(EKVP5) KRT83 [HSA:3889] [KO:K07605]
(EKVP6) TRPM4 [HSA:54795] [KO:K04979]
(EKVP7) PERP [HSA:64065] [KO:K10136]

Other DBs

ICD-11:

MeSH:

OMIM:

133200 617524 617525 617526 617756 618531 619209

Reference

Authors

Hendrix JD Jr, Greer KE

Title

Erythrokeratodermia variabilis present at birth: case report and review of the literature.

Journal

Pediatr Dermatol 12:351-4 (1995)
DOI:10.1111/j.1525-1470.1995.tb00200.x

Reference

Authors

Papadavid E, Koumantaki E, Dawber RP

Title

Erythrokeratoderma variabilis: case report and review of the literature.

Journal

J Eur Acad Dermatol Venereol 11:180-3 (1998)
DOI:10.1111/j.1468-3083.1998.tb00777.x

Reference

PMID:9843209 (EKVP1)

Authors

Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ

Title

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

Journal

Nat Genet 20:366-9 (1998)
DOI:10.1038/3840

Reference

PMID:12648223 (EKVP2)

Authors

Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J

Title

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Journal

J Invest Dermatol 120:601-9 (2003)
DOI:10.1046/j.1523-1747.2003.12080.x

Reference

PMID:25398053 (EKVP3)

Authors

Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA

Title

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.

Journal

J Invest Dermatol 135:1540-1547 (2015)
DOI:10.1038/jid.2014.485

Reference

PMID:28575652 (EKVP4)

Authors

Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA

Title

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.

Journal

Am J Hum Genet 100:978-984 (2017)
DOI:10.1016/j.ajhg.2017.05.003

Reference

PMID:27965375 (EKVP5)

Authors

Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA

Title

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.

Journal

J Med Genet 54:186-189 (2017)
DOI:10.1136/jmedgenet-2016-104107

Reference

PMID:30528822 (EKVP6)

Authors

Wang H, Xu Z, Lee BH, Vu S, Hu L, Lee M, Bu D, Cao X, Hwang S, Yang Y, Zheng J, Lin Z

Title

Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.

Journal

J Invest Dermatol 139:1089-1097 (2019)
DOI:10.1016/j.jid.2018.10.044

Reference

PMID:30321533 (EKVP7)

Authors

Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschke P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A

Title

Mutations in PERP Cause Dominant and Recessive Keratoderma.

Journal

J Invest Dermatol 139:380-390 (2019)
DOI:10.1016/j.jid.2018.08.026

LinkDB

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