Gorlin-Goltz Syndrome: Diagnosis and Treatment Options

João Mendes-Abreu, Miguel Pinto-Gouveia, Cátia Tavares-Ferreira, Ana Brinca, Ricardo Vieira

Abstract


The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. After establishing the diagnosis, given the identification of three major criteria, the treatment consisted in the excision of the lesions followed, in one case, with vismodegib treatment resulting in complete remission. Gorlin-Goltz syndrome is therefore a multidisciplinary challenge, whose variable morbidity and high risk of recurrence make treatment and surveillance critical. However, new molecular targeted therapies have brought a new hope in treating these patients.


Keywords


Basal Cell Nevus Syndrome/diagnosis; Basal Cell Nevus Syndrome/therapy

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