Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

C. Covaciu, M. Castori, N. De Luca, P. Ghirri, A. Nannipieri, G. Ragone, G. Zambruno, D. Castiglia

Research output: Contribution to journalArticlepeer-review

Abstract

Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling and easily breaking blisters that become less frequent later in life while hyperkeratosis increases.1 EI is caused by dominant mutations in either KRT1 or KRT10, encoding keratin 1 (K1) and keratin 10 (K10), respectively.1 Usually, mutations are missense substitutions into the highly conserved α-helical rod domains of the proteins.2,3 However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described.4-6

Original languageEnglish
Pages (from-to)1384-1387
Number of pages4
JournalBritish Journal of Dermatology
Volume162
Issue number6
DOIs
Publication statusPublished - Jun 2010

Keywords

  • Bullous congenital ichthyosiform erythroderma
  • Consanguinity
  • Cryptic splicing
  • Epidermolytic hyperkeratosis
  • Mutation detection
  • Recurrence risk

ASJC Scopus subject areas

  • Dermatology

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