Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner's syndrome.
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.
D000230:Adenocarcinoma / Q000150:complications; D001827:Body Height; D002278:Carcinoma in Situ / Q000150:complications; D002294:Carcinoma, Squamous Cell / Q000150:complications; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003110:Colonic Neoplasms / Q000150:complications; D048909:Diabetes Complications; D005347:Fibroblasts; D006801:Humans; D007642:Keratosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010375:Pedigree; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications; D014898:Werner Syndrome / Q000150:complications