[Clinical characteristics and genetic identity of the basal cell nevus syndrome (Gorlin-Goltz syndrome)].
The clinical, genetic, radiological, dental and dermatological aspects of 3 patients with the autosomal dominant basal cell naevus syndrome are reported. An analysis of the phenotypic features of 72 cases described in the literature is presented and compared with a previous analysis. Ash leaf hypopigmentation similar to that found in tuberous sclerosis represents a unique finding in this syndrome. Other similarities to the phacomatoses are discussed. We were able to support a previous report that patients with the basal cell naevus syndrome have a normal end-organ response to parathormone stimulation, and that it is most probably not related to pseudohypoparathyroidism, as earlier reports suggested.
D000328:Adult; D001845:Bone Cysts / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D002280:Basal Cell Carcinoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D000242:Cyclic AMP / Q000652:urine; D005260:Female; D006801:Humans; D007571:Jaw Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D008297:Male; D010281:Parathyroid Hormone; D010375:Pedigree; D010710:Phosphates / Q000652:urine; D010859:Pigmentation Disorders / Q000235:genetics*; D011547:Pseudohypoparathyroidism / Q000175:diagnosis; D011859:Radiography; D013577:Syndrome
D010281:Parathyroid Hormone; D010710:Phosphates; D000242:Cyclic AMP
Die kliniese eienskappe en Genetiese identiteit van die basaalsel nevus sindroom (Gorlin-Goltz sindroom)