Chromosomal Instability Associated With Susceptibility to Malignant Disease in Patients With Porokeratosis of Mibelli

Summary

Skin biopsies were obtained from 4 patients with porokeratosis of Mibelli, a rare inherited skin disease associated with malignancy. Two patients had squamous cell carcinomas on some of the lesions. Fibroblasts from affected and unaffected areas of the patients' skin were cultured, and clones of cytogenetically abnormal cells were found in 8 of 16 lines of fibroblasts from affected areas of skin of 2 patients. A third patient had no chromosomal abnormalities, and a further patient showed 1 line of cells from an apparently normal area of skin with 2 abnormal clones. No specific chromosomal abnormalities were common to all cell lines, and no unstable rearrangements were found. Ten lines of cells from 7 normal healthy individuals, age-matched to the porokeratosis patients, had no abnormal clones of cells. The evidence suggests a chromosomal instability in cultured cells from patients with this syndrome, and the relevance of this finding to the high incidence of skin cancer is considered.