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Gorlin's syndrome: diffuse appendicular skeletal involvement with scintigraphic correlation.

Justin Q Ly·Douglas P Beall
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Abstract

Gorlin's syndrome (also known as basal cell nevus syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, intracranial calcification, keratocysts of the mandible, and unusual and striking skeletal abnormalities. We present the interesting case of a 45-year-old woman who was informed that she had fibrous dysplasia of the extremity at another institution before extensive radiological work-up showed a diffuse skeletal process. The skeletal abnormalities, in conjunction with the patient's history of multiple basal cell carcinomas, is consistent with the diagnosis of Gorlin's syndrome. We describe this unusual case of striking radiological and scintigraphic findings in a patient with Gorlin's syndrome.

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Basal Cell Nevus SyndromeBone and BonesDiagnosis, DifferentialFemaleFibrous Dysplasia of BoneHumansMiddle AgedRadiographyRadionuclide ImagingCase ReportsJournal Article

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Justin Q Ly, Douglas P Beall. 2003. Gorlin's syndrome: diffuse appendicular skeletal involvement with scintigraphic correlation.. https://doi.org/10.1046/j.1440-1673.2003.01186.x

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