PMID- 17683385
OWN - NLM
STAT- MEDLINE
DCOM- 20071011
LR  - 20071207
IS  - 0385-2407 (Print)
IS  - 0385-2407 (Linking)
VI  - 34
IP  - 8
DP  - 2007 Aug
TI  - R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.
PG  - 545-8
AB  - A 37-year-old Japanese male presented to us with persistent asteatotic skin with 
      mild erythema on the trunk and extremities. Skin biopsy from the left knee showed 
      marked epidermal acanthosis and hyperkeratosis, and milder granular degeneration. 
      Ultrastructural analysis revealed clumping of the keratin filaments within 
      suprabasal keratinocytes of the epidermis. Following direct sequencing, we found 
      a single nucleotide substitution in one allele at the residue position 466 of the 
      1A rod domain segment (CGC to TGC, arginine to cysteine; R156C) in keratin 10. 
      Clinical manifestations and molecular analysis indicated that R156C mutation in 
      keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) 
      in the presented case.
FAU - Haruna, Kunitaka
AU  - Haruna K
AD  - Department of Dermatology, Juntendo University School of Medicine, Tokyo, Japan. 
      kharuna@med.juntendo.ac.jp
FAU - Suga, Yasushi
AU  - Suga Y
FAU - Mizuno, Yuki
AU  - Mizuno Y
FAU - Hasegawa, Toshio
AU  - Hasegawa T
FAU - Kourou, Kazuhiro
AU  - Kourou K
FAU - Matsuba, Shouichi
AU  - Matsuba S
FAU - Muramatsu, Shigenori
AU  - Muramatsu S
FAU - Ikeda, Shigaku
AU  - Ikeda S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - J Dermatol
JT  - The Journal of dermatology
JID - 7600545
RN  - 0 (Codon)
RN  - 147785-83-9 (Keratin-10)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution/*genetics
MH  - Codon
MH  - DNA Mutational Analysis
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/*genetics/pathology/ultrastructure
MH  - Keratin-10/*genetics
MH  - Male
MH  - *Point Mutation
MH  - Skin/pathology/ultrastructure
EDAT- 2007/08/09 09:00
MHDA- 2007/10/12 09:00
CRDT- 2007/08/09 09:00
PHST- 2007/08/09 09:00 [pubmed]
PHST- 2007/10/12 09:00 [medline]
PHST- 2007/08/09 09:00 [entrez]
AID - JDE328 [pii]
AID - 10.1111/j.1346-8138.2007.00328.x [doi]
PST - ppublish
SO  - J Dermatol. 2007 Aug;34(8):545-8. doi: 10.1111/j.1346-8138.2007.00328.x.