PMID- 10564334
OWN - NLM
STAT- MEDLINE
DCOM- 19991214
LR  - 20190831
IS  - 0307-6938 (Print)
IS  - 0307-6938 (Linking)
VI  - 24
IP  - 5
DP  - 1999 Sep
TI  - Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the
      helix termination motif of the keratin 2e gene.
PG  - 412-5
AB  - Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant disorder of
      keratinization. It is characterized by a mild epidermolytic ichthyosis which
      tends to localize to the flexures. Affected individuals are born with widespread 
      blistering, which develops into large hyperkeratotic plaques over the
      extremities. Mutations in the K2e gene cause epidermolytic hyperkeratosis
      confined to the upper spinous and granular layers, as observed in IBS. In this
      report, we describe a novel mutation in the keratin 2e gene in a four-generation 
      IBS kindred of German ancestry. The mutation resides within the 2B helix
      termination motif of the keratin 2e gene, and extends the body of evidence
      implicating keratin 2e gene mutations in IBS.
FAU - Moraru, R
AU  - Moraru R
AD  - Department of Dermatology, Columbia University, College of Physicians and
      Surgeons, New York, NY 10032, USA.
FAU - Cserhalmi-Friedman, P B
AU  - Cserhalmi-Friedman PB
FAU - Grossman, M E
AU  - Grossman ME
FAU - Schneiderman, P
AU  - Schneiderman P
FAU - Christiano, A M
AU  - Christiano AM
LA  - eng
GR  - P30-AR44535/AR/NIAMS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Clin Exp Dermatol
JT  - Clinical and experimental dermatology
JID - 7606847
RN  - 0 (KRT2 protein, human)
RN  - 0 (Keratin-2)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Epidermolysis Bullosa Dystrophica/*genetics
MH  - Female
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/genetics
MH  - Keratin-2
MH  - Keratins/*genetics
MH  - Middle Aged
MH  - Mutation, Missense/*physiology
MH  - Pedigree
MH  - Polymerase Chain Reaction/methods
EDAT- 1999/11/17 00:00
MHDA- 1999/11/17 00:01
CRDT- 1999/11/17 00:00
PHST- 1999/11/17 00:00 [pubmed]
PHST- 1999/11/17 00:01 [medline]
PHST- 1999/11/17 00:00 [entrez]
AID - ced514 [pii]
AID - 10.1046/j.1365-2230.1999.00514.x [doi]
PST - ppublish
SO  - Clin Exp Dermatol. 1999 Sep;24(5):412-5. doi: 10.1046/j.1365-2230.1999.00514.x.