[The basal cell nevus syndrome. Case report of a 14-year-old girl].
"Basal cell naevus syndrome" (Gorlin's syndrome) is a sporadic autosomal dominant hereditary precancerous condition which affects several organ systems. The dominating clinical manifestations are multiple basal cell naevi which develop into malignant basocellular carcinoma. Further abnormalities include abnormalities of the vertebrae and ribs, odontogenic keratocysts, calcification of the falx cerebri, a special facial appearance with progeny and macrocephaly. Affected patients may develop also ovarian fibromas, fibrosarcomas, cardiac fibromas, medulloblastomas and meningiomas. Lymphatic and chylous mesenteric cysts are also frequent. In the submitted paper the authors present the case-history of a 14-year-old girl with multiple naevi, histologically specified as solid, superficial and tricho-epithelial basalioma. Phenotypic manifestations, multiple keratocysts, bone abnormalities and calcifications of the falx cerebri which are detected in the girl led to the diagnosis of Gorlin's syndrome. The authors discuss the problem of cytogenetic findings (structural abnormalities, markers of mutagenicity) and possible therapy.
Ustav lékarské genetiky LF UP, Olomouc.
A
A
Santavá
K
K
Michálková
A
A
Brázda
P
P
Vácha
D000293:Adolescent; D001478:Basal Cell Nevus Syndrome / Q000473:pathology; D005260:Female; D006801:Humans
"Basal cell nevus syndrom". Kasuistika výskytu u 14letého dĕvcete.