PMID- 10232408
OWN - NLM
STAT- MEDLINE
DCOM- 19990622
LR  - 20191103
IS  - 0906-6705 (Print)
IS  - 0906-6705 (Linking)
VI  - 8
IP  - 2
DP  - 1999 Apr
TI  - Squamous cell carcinoma in a family with dominant dystrophic epidermolysis
      bullosa: a molecular genetic study.
PG  - 146-52
AB  - Squamous cell carcinoma in a family with dominant dystrophic epidermolysis
      bullosa: a molecular genetic study Squamous cell carcinoma (SCC) is a frequent
      complication in the severe, recessively inherited forms of dystrophic
      epidermolysis bullosa (RDEB), however, only rarely reported in dominant DEB.
      Although the SCCs in RDEB are frequently well-differentiated by histopathology,
      they often have a poor prognosis due to multicentricity, rapid invasiveness, and 
      development of distant metastases. In this study, we sought to determine the
      molecular basis of DDEB in a family with the unusual occurrence of SCCs.
      Specifically, a large DDEB family with 2 individuals being affected with SCC was 
      analyzed for potential mutations in the type VII collagen gene (COL7A1) by
      heteroduplex scanning and direct nucleotide sequencing of PCR amplified segments 
      of the gene. This mutation detection strategy disclosed a G-->A transition at
      nucleotide position 6,235 which resulted in substitution of a glycine by arginine
      within the collagenous region of COL7A1. This study establishes, for the first
      time, the molecular basis in a family with DDEB/SCC. Clinically, this study
      reemphasizes the importance of vigilance in surveying DEB patients, not only
      those with recessive but also with dominant inheritance, for SCC.
FAU - Christiano, A M
AU  - Christiano AM
AD  - Department of Dermatology and Cutaneous Biology, Jefferson Medical College,
      Jefferson Institute of Molecular Medicine, Thomas Jefferson University,
      Philadelphia, PA 19107-5541, USA.
FAU - Crollick, J
AU  - Crollick J
FAU - Pincus, S
AU  - Pincus S
FAU - Uitto, J
AU  - Uitto J
LA  - eng
GR  - P01-AR38923/AR/NIAMS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Denmark
TA  - Exp Dermatol
JT  - Experimental dermatology
JID - 9301549
RN  - 9007-34-5 (Collagen)
SB  - IM
CIN - Exp Dermatol. 1999 Apr;8(2):92-5. PMID: 10232398
MH  - Adult
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - Blister/pathology
MH  - Carcinoma, Squamous Cell/complications/*genetics/pathology
MH  - Collagen/*genetics
MH  - Epidermolysis Bullosa Dystrophica/complications/*genetics/pathology
MH  - Exons
MH  - Female
MH  - Genes, Dominant
MH  - Humans
MH  - Male
MH  - Neoplasm Invasiveness
MH  - Neoplasm Metastasis
MH  - Pedigree
MH  - *Point Mutation
EDAT- 1999/05/08 00:00
MHDA- 1999/05/08 00:01
CRDT- 1999/05/08 00:00
PHST- 1999/05/08 00:00 [pubmed]
PHST- 1999/05/08 00:01 [medline]
PHST- 1999/05/08 00:00 [entrez]
AID - 10.1111/j.1600-0625.1999.tb00364.x [doi]
PST - ppublish
SO  - Exp Dermatol. 1999 Apr;8(2):146-52. doi: 10.1111/j.1600-0625.1999.tb00364.x.