[Cowden disease: report of 8 cases in 2 families (author's transl)].
These 8 cases of multiple hamartoma syndrome are the first reported in Switzerland. Two men aged respectively of 65 and 28 years presented a cobblestone appearance of the gingiva and of the tongue ("pebbly tongue"), which suggested Cowden disease. This diagnosis was confirmed by the discovery of numberous skin lesions, a thyroid goiter, gastrointestinal polyposis, and a mild skelettal dysmorphosis. The older patient had a grade one carcinoma of the bladder; his son and his daughter presented the syndrome, which was also discovered in the family of the second patient (his father, his brother, his sister and one of her daughters). The ultrastructural study of two skin biopsies demonstrated anomalies of the fibroblasts and collagen fibers.
D000293:Adolescent; D000328:Adult; D001943:Breast Neoplasms; D002648:Child; D002675:Child, Preschool; D005260:Female; D006042:Goiter; D006222:Hamartoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007417:Intestinal Polyps; D008297:Male; D008875:Middle Aged; D009061:Mouth Mucosa; D009062:Mouth Neoplasms / Q000175:diagnosis / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000648:ultrastructure; D013577:Syndrome
Maladie de Cowden: a propos de 8 cas familiaux.