Cowden's syndrome: a clinical, immunological, and histopathological study.

ABSTRACT

BACKGROUND: Cowden's syndrome is a rare, autosomal dominant condition characterized by hamartomas of the gastrointestinal tract and cancer of the breast and thyroid. This study describes the clinical, immunological, and histopathological status of four Cowden's syndrome cases from two different families. METHODS: Biopsies were taken from different skin, mucous membrane, and intestinal lesions in all patients. Blood samples from patients and their parents were also examined. RESULTS: Two brothers in the first family had more flexural distribution of papular and warty skin lesions as well as other manifestations of the syndrome, including recurrent pyogenic and fungal infections. Flow cytometric study revealed decreased total T and B-cell percentages and abnormal helper suppressor ratios in these patients. The other two patients from the second family showed the classical picture of the syndrome and normal immunological parameters. Histopathologically, most skin lesions of the face showed trichilemmomas, and all oral and some of the other skin lesions showed benign fibromas with giant cells (Cowden's fibroma). Examination of intestinal biopsies revealed hamartomatous and hyperplastic polyps. CONCLUSIONS: Some cases of Cowden's syndrome may be associated with prominent flexural skin lesions, recurrent pyogenic and fungal skin infections, decreased total T and B-cell counts, and an abnormal helpersuppressor ratio.