Nevoid Basal Cell Carcinoma Syndrome with Beaten Copper Appearance of Skull

Abstract

Nevoid basal cell carcinoma syndrome(NBCCS) or Gorlin-Goltz syndrome is a rare disorder with autosomal dominant inheritance and multisystem involvement. It is characterized by developmental defects including bifid ribs and palmar pits and is prone to various lesion formations such as basal cell carcinoma and odontogenic keratocyst. There is also a tendency for tumor formation such as medulloblastoma, fibroma, rhabdomyoma, leiomyosarcoma. The diagnosis is based on major and minor clinical and radiological criteria. Beaten copper appearance(BCA) is the radiological appearance that occurs as a result of gyral pressure sites occurring in the skull bones due to increased intracranial pressure(ICP). According to our knowledge, there has been no mention of this radiological finding in NBCCS reported to date. This article presents an NBCCS patient with BCA in the skull without an increase in intracranial pressure and hypophosphatasia.