| H00710 | |
| H number | H00710 |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC20.0Y ICD-10: Q82.8 MeSH: D056266 OMIM: 133200 617524 617525 617526 617756 618531 619209 |
| Reference | PMID:8747585 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 PMID:9784050 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 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 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 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 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 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 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 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 |