Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner's syndrome

Abstract

A 49-yr-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 2 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 UV 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.