PMID- 10053007
OWN - NLM
STAT- MEDLINE
DCOM- 19990420
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 3
DP  - 1999 Mar
TI  - Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by 
      mutations in the 2B domain of keratin K1.
PG  - 732-8
AB  - Bullous congenital ichthyosiform erythroderma (BCIE) is characterized by 
      blistering and erythroderma in infancy and by erythroderma and ichthyosis 
      thereafter. Epidermolytic hyperkeratosis is a hallmark feature of light and 
      electron microscopy. Here we report on four individuals from two families with a 
      unique clinical disorder with histological findings of epidermolytic 
      hyperkeratosis. Manifesting erythema and superficial erosions at birth, which 
      improved during the first few months of life, affected individuals later 
      developed palmoplantar hyperkeratosis with patchy erythema and scale elsewhere on 
      the body. Three affected individuals exhibit dramatic episodic flares of annular, 
      polycyclic erythematous plaques with scale, which coalesce to involve most of the 
      body surface. The flares last weeks to months. In the interim periods the skin 
      may be normal, except for palmoplantar hyperkeratosis. Abnormal keratin-filament 
      aggregates were observed in suprabasal keratinocytes from both probands, 
      suggesting that the causative mutation might reside in keratin K1 or keratin K10. 
      In one proband, sequencing of K1 revealed a heterozygous mutation, 1436T-->C, 
      predicting a change of isoleucine to threonine in the highly conserved 
      helix-termination motif. In the second family, a heterozygous mutation, 
      1435A-->T, was found in K1, predicting an isoleucine-to-phenylalanine 
      substitution in the same codon. Both mutations were excluded in both a control 
      population and all unaffected family members tested. These findings reveal that a 
      clinical phenotype distinct from classic BCIE but with similar histology can 
      result from K1 mutations and that mutations at this codon give rise to a 
      clinically unique condition.
FAU - Sybert, V P
AU  - Sybert VP
AD  - Departments of Pediatrics, University of Washington School of Medicine, 
      Children's Hospital and Medical Center, Division of Dermatology, CH-25, 4800 Sand 
      Point Way NE, P.O. Box 5371, Seattle, WA 98105, USA flk01@u.washington.edu Julie 
      S.
FAU - Francis, J S
AU  - Francis JS
FAU - Corden, L D
AU  - Corden LD
FAU - Smith, L T
AU  - Smith LT
FAU - Weaver, M
AU  - Weaver M
FAU - Stephens, K
AU  - Stephens K
FAU - McLean, W H
AU  - McLean WH
LA  - eng
GR  - AM 62272/AM/NIADDK NIH HHS/United States
GR  - P01-AR21557/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - DNA Mutational Analysis
MH  - Fluorescent Antibody Technique
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/complications/*genetics/pathology
MH  - Keratins/*genetics/physiology
MH  - Male
MH  - Mutation, Missense
MH  - Pedigree
MH  - Phenotype
MH  - Point Mutation
MH  - Skin/pathology/ultrastructure
PMC - PMC1377790
EDAT- 1999/03/03 03:04
MHDA- 2000/03/21 09:00
PMCR- 1999/09/01
CRDT- 1999/03/03 03:04
PHST- 1999/03/03 03:04 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/03/03 03:04 [entrez]
PHST- 1999/09/01 00:00 [pmc-release]
AID - S0002-9297(07)61710-8 [pii]
AID - 10.1086/302278 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Mar;64(3):732-8. doi: 10.1086/302278.