PMID- 10494094
OWN - NLM
STAT- MEDLINE
DCOM- 19991105
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 86
IP  - 4
DP  - 1999 Oct 8
TI  - Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and
      confirmation of the P24L mutation in the KRT5 gene in further patients.
PG  - 376-9
AB  - Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare
      dermatologic disorder of autosomal dominant inheritance with intraepidermal
      blistering after minor trauma, reticular hyperpigmentation unrelated to the
      blistering, nail dystrophy, and mild palmoplantar keratosis. Keratin 5 and
      keratin 14 are known to be essential for the basal keratinocyte cytoskeleton and 
      are defective in several forms of epidermolysis bullosa simplex. Recently, a
      71C-->T transition in the keratin 5 gene (KRT5) causing a P24L substitution was
      identified in some patients with EBS-MP. We present a family with three affected 
      members and a sporadic patient with EBS-MP. They exemplify clinically mild
      expression with intrafamilial variability and the possibility of improvement with
      time. In all of them, mutation analysis of the KRT5 gene showed the P24L
      mutation. So far, other mutations in the same or in other genes have not been
      reported in patients with EBS-MP.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Moog, U
AU  - Moog U
AD  - Department of Clinical Genetics, Maastricht University, Maastricht, The
      Netherlands. ute.moog@gen.unimaas.nl
FAU - de Die-Smulders, C E
AU  - de Die-Smulders CE
FAU - Scheffer, H
AU  - Scheffer H
FAU - van der Vlies, P
AU  - van der Vlies P
FAU - Henquet, C J
AU  - Henquet CJ
FAU - Jonkman, M F
AU  - Jonkman MF
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 68238-35-7 (Keratins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Base Sequence
MH  - Child
MH  - DNA/genetics
MH  - DNA Mutational Analysis
MH  - Epidermis/ultrastructure
MH  - Epidermolysis Bullosa Simplex/complications/*genetics/pathology
MH  - Female
MH  - Genes, Dominant
MH  - Humans
MH  - Hyperpigmentation/complications/*genetics/pathology
MH  - Infant
MH  - Keratins/*genetics
MH  - Male
MH  - Microscopy, Electron
MH  - *Point Mutation
EDAT- 1999/09/24 00:00
MHDA- 1999/09/24 00:01
CRDT- 1999/09/24 00:00
PHST- 1999/09/24 00:00 [pubmed]
PHST- 1999/09/24 00:01 [medline]
PHST- 1999/09/24 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19991008)86:4<376::AID-AJMG12>3.0.CO;2-W [pii]
AID - 10.1002/(sici)1096-8628(19991008)86:4<376::aid-ajmg12>3.0.co;2-w [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Oct 8;86(4):376-9. doi:
      10.1002/(sici)1096-8628(19991008)86:4<376::aid-ajmg12>3.0.co;2-w.