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 [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
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: 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
Reference
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
Reference
PMID:9843209
  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
  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
  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
  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
  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
  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
  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
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