Skeletal anomalies in Gorlin-Goltz Syndrome: a systematic review

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INTRODUCTION: Gorlin-Goltz Syndrome (GGS), which is also well-known as nevoid basal cell carcinoma syndrome, is a rare entity consisting of ectodermal and mesodermal abnormalities. It is a rare genetic disorder with the autosomal dominant inheritance which shows high penetrance and variable expressivity. The protein patched homolog gene mutation is held responsible for the etiology and leads to multi-organ disorder. The syndrome is characterized by the classical triad of odontogenic keratocysts, multiple basal cell nevi and skeletal anomalies. Early diagnosis is important to reduce the severity of the complications, especially regarding tumors. Due to the wide clinical spectrum, treatment and management are not standardized and should be individualized and monitored by a multidisciplinary team.EVIDENCE ACQUISITION: A systematic review of the literature indexed in PubMed MEDLINE and Cochrane Library databases using as search terms “Nevoid Basal Cell Carcinoma AND Gorlin Goltz” was performed in September 2023. To be considered for this review at least a section of the population understudy needed to be affected by GGS and have at least a skeletal abnormality. Literature focused on maxillofacial manifestations/surgery were excluded.EVIDENCE SYNTHESIS: Forty studies met the inclusion criteria and were included in the review. The reached population consisted of 62 patients (66.1% were males and 33.9% were females). Among the skeletal abnormalities we found 41.9% bifid/spread/fused ribs, 17.7% wedged/fused vertebrae, 14.5% scoliosis, 11.2% Sprengel and 9.7% pectus deformities and 11.2% syndactyly of the digits. No surgical approaches to the skeletal problem were described.CONCLUSIONS: The extreme phenotypic variability of these patients is extremely characteristic and is also expressed at the skeletal level. Although skeletal anomalies are widely represented in this population, due to their “benign” nature they often move to the background. The radiologist and the orthopedic surgeon are fundamental in the recognition of these abnormalities that allow the patient to be directed toward a correct and timely diagnosis, and potentially lifesaving.