Gorlin syndrome is a hereditary dominant autosomic disease, linked to a gene presumably located on the long arm of the 9th chromosoma. It is characterized by multiple nevoid basal-cell carcinomas, palmo-plantar pits, skeletal defects, intracranial ectopic calcifications and, less frequently, tumors of other organs like ovaries and brain, cysts of cutis and long bones, neurologic and ocular defects. In addition to a genetic component, X-rays and solar exposure are very important in inducing basal-cell tumors. Unilateral and linear varieties have been described, as well as cases associated with numerous and different diseases. Here is described a familial case recently observed by us. Our patients are: 1) A 60 year old female with a 15 year history of erythemato-desquamative, sometime pagetoid lesions with eroded, or pigmented atrophic surface located on the trunk and asymptomatic. She presents also palmo-plantar pits, ovarian cysts and calcification of the falx cerebri. 2) A 30 year old male (son) with rounded, flat, atrophic, sometimes ulcerated basal cell carcinomas occasionally bordered with epithelial pearls. He has palmo-plantar pits also visible at the dorsal surfaces of the fingers. The CT-scanner shows a little paramedian calcification of the brain. 3) A 28 year old female (daughter) with two basal cell carcinomas. She is totally unaware of their presence. Also this patient has palmo-plantar pits, but not CT-scanner visible calcifications. Familial supervision and exhaustive clinical and instrumental examination is important in detecting neglected cases and in complete patient evaluation.
|Translated title of the contribution||Multiple nevoid-basal-cell-carcinoma-syndrome. Description of a familial case|
|Number of pages||4|
|Journal||Giornale Italiano di Dermatologia e Venereologia|
|Publication status||Published - 1994|
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