Gorlin-Goltz syndrome: clinical findings in a Italian population

Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome (NBCCS) is a rare inherited autosomal dominant genodermatosis, with nearly complete penetrance but variable expression. NBCCS results from mutations in the Patched 1 (PTCH1) gene (40%–88% of NBCCS cases with higher estimates closer to 90% in more recent studies). Recently, mutations in suppressor of fused gene (SUFU) and PTCH2 have been found in patients with NBCCS. The estimated prevalence of the disease ranges between 1/57.000 and 1/256.000, with a male-to-female ratio of 1:1. The clinical features arise in the first, second, or third decades of life.1,2 This syndrome includes a wide spectrum of defects encompassing the skin, eyes, central nervous and endocrine system, and bones. Diagnosis is based on fulfilment of: two major diagnostic criteria and one minor diagnostic criterion or one major and three minor diagnostic criteria. Identification of a heterozygous germline PTCH1 or SUFU pathogenic variant on molecular genetic testing establishes the diagnosis if clinical features are inconclusive.3 In this study we sought to investigate clinical aspects in Italian patients with NBCCS. We reviewed all clinical charts of 40 NBCCS patients followed by February 1983 to February 2020 at the “Sapienza” University of Rome, Italy. All patients were investigated in a similar way with periodic evaluations that included dermatological, dental, ophthalmologic, gynecological and cardiological evaluation. Clinical examination included oral inspection, measurement of head circumference and interpupillary distance, examination of the skin for basal cell carcinomas (BCCs), and pits on the palms and soles. Radiographs of the chest, skull, spine, hands, pelvic (female) and teeth panorex were taken