KEGG DISEASE: Ichthyosis hystrix

KEGG

DISEASE: Ichthyosis hystrix

Entry

H00707                      Disease

Name

Ichthyosis hystrix

Subgroup

Ichthyosis hystrix, Curth-Macklin type (IHCM)
Ichthyosis hystrix, Lambert type (IHL)

Description

Ichthyosis hystrix is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such as perinuclear tonofibril shells of keratin intermediate filaments in binucleated suprabasal keratinocytes. It has been postulated that mutations in KRT1 result in a phenotype with the presence of palmoplantar keratoderma, the Curth-Macklin type (IHCM), while mutations in KRT10 cause the Lambert type (IHL), in which palmoplantar keratoderma is absent.

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
    H00707  Ichthyosis hystrix
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06545  Cornified envelope formation
   H00707  Ichthyosis hystrix

Pathway

hsa04382 Cornified envelope formation

Network

nt06545 Cornified envelope formation

Gene

(IHCM) KRT1 [HSA:3848] [KO:K07605]
(IHL) KRT10 [HSA:3858] [KO:K07604]

Other DBs

ICD-11:

MeSH:

C536088 C536087

OMIM:

Reference

Authors

Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H

Title

In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin.

Journal

J Invest Dermatol 120:498-500 (2003)
DOI:10.1046/j.1523-1747.2003.12064.x

Reference

Authors

Smith F

Title

The molecular genetics of keratin disorders.

Journal

Am J Clin Dermatol 4:347-64 (2003)
DOI:10.2165/00128071-200304050-00005

Reference

PMID:21844476 (KRT1)

Authors

Kubo Y, Urano Y, Matsuda R, Ishigami T, Murao K, Arase S, Ishida-Yamamoto A

Title

Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1.

Journal

Arch Dermatol 147:999-1001 (2011)
DOI:10.1001/archdermatol.2011.217

Reference

PMID:29689068 (KRT1, KRT10)

Authors

Terrinoni A, Didona B, Caporali S, Chillemi G, Lo Surdo A, Paradisi M, Annichiarico-Petruzzelli M, Candi E, Bernardini S, Melino G

Title

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

Journal

PLoS One 13:e0195792 (2018)
DOI:10.1371/journal.pone.0195792

LinkDB

» Japanese version

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