Entry |
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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.
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Category |
Congenital malformation
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Brite |
Human diseases [BR:br08402]
Congenital malformations
Congenital malformations of skin
H00710 Erythrokeratodermia variabilis
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
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Gene |
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Other DBs |
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Reference |
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Authors |
Hendrix JD Jr, Greer KE |
Title |
Erythrokeratodermia variabilis present at birth: case report and review of the literature. |
Journal |
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Reference |
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Authors |
Papadavid E, Koumantaki E, Dawber RP |
Title |
Erythrokeratoderma variabilis: case report and review of the literature. |
Journal |
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Reference |
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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 |
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Reference |
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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 |
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Reference |
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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 |
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Reference |
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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 |
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Reference |
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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 |
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Reference |
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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. |
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LinkDB |
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