CLINICAL CASES   

Giornale Italiano di Dermatologia e Venereologia 2003 August;138(4):311-5

Copyright © 2003 EDIZIONI MINERVA MEDICA

language: English

Basal cell carcinoma syndrome. Pathophysiology of programmed cell death

Bongiorno M. R., Pistone G., Aricò M.

Department of Dermatology University of Palermo, Palermo, Italy

A 38-year-old woman presented various small brown papules and nodules at an early age. The distribution of tumours was bilateral and symmetrical. The lesions, predominantly distributed on the face, neck, back and lower extremities, have became more aggressive and they increased in size and number up to late adolescence. Basal cell carcinomas (BCC) in the patient were significantly more prevalent on the sun protected regions. Falx calcification and vertebrate anomalies were also present. The majority of patients with nevoid basal cell carcinoma syndrome (NBCCS) and some patients with sporadic basal cell carcinoma, have an allele loss on chromosome 9q22. This was recently identified in the 9q region (the patched protein). We report the role of p53, bcl 2, p27, CD95 and p21 in NBCCS. The levels of expression of several genes involved in cell cycle regulation (p53, p21) and in control apoptosis (p27, Bcl-2 e CD95) varied among individual tumours in the same patient. According to our results it is not possible at present exclude the presence of mutations in genes involved in the control of apoptosis and in other genes. The Patched, the genes of cell cycle regulation and apoptosis are implicated in the development of BCC of NBCCS. The identification of recurrent genetic aberrations suggests that BCC may not be as genetically stable as previously thought.