[Cowden's disease in an adolescent].
Cowden's disease is an autosomal dominantly inherited syndrome characterized by mucocutaneous lesions and multiple hamartomas. We report here a 12 years-old boy case with craniomegally, intestinal polyps, epilepsy and multiadenomatous goiter. All the lesions were beginnings. The predisposing genetic defect has been assignated to chromosomal 10 (PTEN-gene mutation). A long term follow-up is necessary because of the risk of malignancies.
Mcheik
J N
JN
Service de chirurgie pédiatrique, centre hospitalier universitaire de Poitiers, 350, avenue Jacques-Caeur, BP 577, 86021 Poitiers, France. jiadmcheik@yahoo.fr
Vabres
P
P
Bonneau
D
D
Longy
M
M
Levard
G
G
D002648:Child; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D004827:Epilepsy / Q000209:etiology; D006042:Goiter / Q000209:etiology; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007417:Intestinal Polyps / Q000209:etiology; D008297:Male; D017354:Point Mutation; D012307:Risk Factors; D012886:Skull / Q000473:pathology*; D014057:Tomography, X-Ray Computed