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Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner's syndrome
Author(s) -
MACHINO H.,
MIKI Y.,
TERAMOTO T.,
SHIRAISHI S.,
SASAKI M.S.
Publication year - 1984
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1984.tb06628.x
Subject(s) - medicine , werner syndrome , short stature , dermatology , porokeratosis , autopsy , basal cell , pathology , diabetes mellitus , endocrinology , genetics , biology , helicase , rna , gene
SUMMARY A 49‐year‐old man with extensive porokeratosis of Mibelli (PM) developed a squamous cell carcinoma and several carcinomas‐ in‐situ within the lesional skin. The patient also had diabetes mellitus and a short stature with a prematurely aged appearance. The patient's father and two siblings also had PM. The patient died from metastatic squamous cell carcinoma, and at autopsy an adenocarcinoma of the descending colon was also found. Fibroblasts cultured from both the PM‐affected and unaffected skin showed chromosomal abnormalities and a decreased lifespan. Cellular sensitivity to ultraviolet rays measured by unscheduled DNA synthesis and colony‐forming ability were within normal limits. An association with a forme fruste of Werner's syndrome was suspected.