KEGG DISEASE: 変異性紅斑角皮症

DISEASE: 変異性紅斑角皮症

エントリ

H00710

名称

変異性紅斑角皮症

概要

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.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC20  遺伝性角化症
    H00710  変異性紅斑角皮症

病因遺伝子

(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]

リンク

ICD-11:

EC20.0Y

MeSH:

D056266

OMIM:

133200 617524 617525 617526 617756 618531 619209

文献

PMID:8747585

著者

Hendrix JD Jr, Greer KE

タイトル

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

雑誌

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

文献

PMID:9784050

著者

Papadavid E, Koumantaki E, Dawber RP

タイトル

Erythrokeratoderma variabilis: case report and review of the literature.

雑誌

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

文献

PMID:9843209 (EKVP1)

著者

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

タイトル

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

雑誌

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

文献

PMID:12648223 (EKVP2)

著者

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

タイトル

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

雑誌

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

文献

PMID:25398053 (EKVP3)

著者

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

タイトル

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

雑誌

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

文献

PMID:28575652 (EKVP4)

著者

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

タイトル

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.

雑誌

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

文献

PMID:27965375 (EKVP5)

著者

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

タイトル

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

雑誌

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

文献

PMID:30528822 (EKVP6)

著者

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

タイトル

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

雑誌

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

文献

PMID:30321533 (EKVP7)

著者

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

タイトル

Mutations in PERP Cause Dominant and Recessive Keratoderma.

雑誌

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

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