[Gorlin-Goltz phakomatosis (author's transl)].
Having had the occasion of observing a new case, the authors have started on a new description of a specific autosomal dominant inheritance disease, description which connects an eye trouble with basal cell nevi, with jaw cysts as well as with malformations of the skeleton and nervous lesions, the tumoral lesions having the essential characteristic of possessing and evolutive potential. The authors explain the reasons which have led them to give to this specific disease the name of Gorlin-Goltz phacomatosis.
D000015:Abnormalities, Multiple / Q000235:genetics; D001845:Bone Cysts / Q000235:genetics*; D001932:Brain Neoplasms / Q000235:genetics; D002280:Basal Cell Carcinoma / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005134:Eye Neoplasms / Q000235:genetics; D005260:Female; D006222:Hamartoma / Q000235:genetics; D006801:Humans; D007571:Jaw Diseases / Q000235:genetics*; D008875:Middle Aged; D011379:Prognosis; D012164:Retinal Diseases / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics; D013577:Syndrome
Phacomatose de Gorlin-Goltz.