PMID- 10597140
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20191103
IS  - 0906-6705 (Print)
IS  - 0906-6705 (Linking)
VI  - 8
IP  - 6
DP  - 1999 Dec
TI  - Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from 
      a mutation in the keratin 1 gene.
PG  - 501-3
AB  - Epidermolytic hyperkeratosis (EHK) is a genodermatosis caused by mutations in
      either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by
      erythroderma and blistering at birth, with development of a ribbed, ichthyotic
      hyperkeratosis and palmoplantar keratoderma. A wide variety of mutations within
      the highly conserved helix termination motifs of the central rod domains of the
      K1 or K10 genes correlate with the highly variable phenotypic severity observed
      in EHK. We report a unique EHK-like phenotype exhibiting autosomal dominant
      inheritance with variable expressivity in four affected individuals in a single
      family. Clinically, affected individuals manifest transient blistering at birth
      followed by chronic diffuse palmoplantar keratoderma without transgradiens.
      Intermittent flares of non-migratory polycylic erythematous psoriasiform plaques 
      which worsen and abate in severity were present in all affected individuals, but 
      showed immense individual variation in both severity and duration, ranging from
      weeks to months. Histopathologic examination of the psoriasiform plaques
      demonstrated the characteristic features of EHK. Sequencing of the K1 gene in
      affected family members revealed a heterozygous A-to-T transversion at nucleotide
      1435 within exon 7, converting isoleucine (ATT) to phenylalanine (TTT), (I479F). 
      The mutation resides within the highly conserved helix termination motif of the
      helix 2B segment of the K1 gene. This unique clinical phenotype and the
      associated K1 mutation have not been previously described, and it is referred to 
      here as EHK with polycyclic, psoriasiform plaques (EHK/PPP).
FAU - Michael, E J
AU  - Michael EJ
AD  - Department of Dermatology, Columbia University, College of Physicians and
      Surgeons, New York, New York 10032, USA.
FAU - Schneiderman, P
AU  - Schneiderman P
FAU - Grossman, M E
AU  - Grossman ME
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  - Denmark
TA  - Exp Dermatol
JT  - Experimental dermatology
JID - 9301549
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Female
MH  - Genes, Dominant
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/*genetics/pathology
MH  - Infant, Newborn
MH  - Keratins/*genetics
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - Phenotype
MH  - Point Mutation
MH  - Psoriasis/genetics/pathology
EDAT- 1999/12/22 00:00
MHDA- 1999/12/22 00:01
CRDT- 1999/12/22 00:00
PHST- 1999/12/22 00:00 [pubmed]
PHST- 1999/12/22 00:01 [medline]
PHST- 1999/12/22 00:00 [entrez]
AID - 10.1111/j.1600-0625.1999.tb00309.x [doi]
PST - ppublish
SO  - Exp Dermatol. 1999 Dec;8(6):501-3. doi: 10.1111/j.1600-0625.1999.tb00309.x.