PMID- 10233323
OWN - NLM
STAT- MEDLINE
DCOM- 20000327
LR  - 20190704
IS  - 0007-0963 (Print)
IS  - 0007-0963 (Linking)
VI  - 140
IP  - 4
DP  - 1999 Apr
TI  - Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e
      mutation, and a review of the literature.
PG  - 689-95
AB  - We report a large family with ichthyosis bullosa of Siemens (IBS) including eight
      affected members spanning three generations. The classical features of the
      disease were consistently observed with blistering, superficial peeling of the
      skin, and localized lichenified hyperkeratosis mainly confined to the limbs.
      Phenotypic variation, however, was also observed with some individuals exhibiting
      unusual clinical features. Specifically, the index patient was erythrodermic at
      birth; she subsequently developed a widespread pustular eruption. Erythroderma is
      classically absent in IBS and pustulation is very unusual. She also had
      hypertrichosis of the limbs, as did an affected female first cousin. This has not
      previously been reported in IBS. Electron microscopy showed complex aggregates of
      keratin in the spinous and granular layers associated, in places, with remarkably
      little cell lysis. Sequencing of genomic DNA revealed a mutation (E493K) in
      keratin 2e. A review of the literature on IBS indicates that E493K is the most
      commonly reported mutation to date and might represent a mutational hotspot for
      this disease.
FAU - Basarab, T
AU  - Basarab T
AD  - St John's Institute of Dermatology, St Thomas' Hospital, London SE1 7EH, U.K.
FAU - Smith, F J
AU  - Smith FJ
FAU - Jolliffe, V M
AU  - Jolliffe VM
FAU - McLean, W H
AU  - McLean WH
FAU - Neill, S
AU  - Neill S
FAU - Rustin, M H
AU  - Rustin MH
FAU - Eady, R A
AU  - Eady RA
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - England
TA  - Br J Dermatol
JT  - The British journal of dermatology
JID - 0004041
RN  - 0 (KRT2 protein, human)
RN  - 0 (Keratin-2)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Adult
MH  - Child
MH  - Female
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/genetics/pathology
MH  - Ichthyosis/*genetics/pathology
MH  - Infant
MH  - Keratin-2
MH  - Keratins/*genetics
MH  - Male
MH  - Microscopy, Electron
MH  - Middle Aged
MH  - Mutation, Missense/*genetics
MH  - Pedigree
RF  - 16
EDAT- 1999/05/08 02:13
MHDA- 2000/04/01 09:00
CRDT- 1999/05/08 02:13
PHST- 1999/05/08 02:13 [pubmed]
PHST- 2000/04/01 09:00 [medline]
PHST- 1999/05/08 02:13 [entrez]
AID - bjd2772 [pii]
AID - 10.1046/j.1365-2133.1999.02772.x [doi]
PST - ppublish
SO  - Br J Dermatol. 1999 Apr;140(4):689-95. doi: 10.1046/j.1365-2133.1999.02772.x.