Cowden's disease: analysis of fourteen new cases.
Fourteen new patients with Cowden's disease from the Netherlands were analyzed and compared with the sixty-nine previously reported patients. The full clinical spectrum of the disease can now be fairly well delineated. Mucocutaneous lesions, especially facial trichilemmomas and other follicular malformations, acral keratoses, and oral papillomas, remain the most constant findings. The incidence of each of these mucocutaneous findings was slightly higher than reported previously, probably reflecting increasing experience with this condition. Also our patients tended to have more extensive acral keratoses and perhaps less extensive facial lesions. In one family there was an extremely high incidence of lipomas. Breast cancer was seen in three of our twelve female patients, reflecting the trend toward a lower incidence of breast cancer in the recent literature. Gastrointestinal polyps in one family were much more common than previously reported, occurring in five of seven patients. Thyroid disease was found in about two thirds of the patients and abnormalities of the female reproductive system in slightly more than half of the patients, both incidences being approximately the same as in the literature. With increased awareness of the condition it is likely that many more cases will be recognized in the future.
D000328:Adult; D000368:Aged; D001842:Bone and Bones / Q000002:abnormalities; D001943:Breast Neoplasms / Q000235:genetics; D000013:Congenital Abnormalities / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics; D005153:Facial Neoplasms / Q000235:genetics; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics; D005799:Genes, Dominant; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009426:Netherlands; D010212:Papilloma / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000235:genetics