title: Skeletal stigmata as keys to access to the composite and ancient Gorlin-Goltz syndrome history: The Egypt, Pompeii and Herculaneum lessons.
abstract: There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to cutaneous and visceral benign and malignant neoplasms. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant systemic disease with almost complete penetrance and high intra-familial phenotypic variability, caused by germline mutations of the gene PTCH1. The syndrome is characterized by unusual skeletal changes and high predisposition to the development of multiple basal cell carcinomas, odontogenic keratocysts tumors and other visceral tumors. The Gorlin syndrome, clinically defined as distinct syndrome in 1963, existed during Dynastic Egyptian times, as revealed by a costellation of skeletal findings compatible with the syndrome in mummies dating back to 3000years ago and, most likely, in the ancient population of Pompeii. These paleogenetic and historical evidences, together with the clinical and biomolecular modern evidences, confirm the quite benign behavior of the syndrome and the critical value of the multiple and synchronous skeletal anomalies in the recognition of these rare and complex genetic disease.
authors.affiliation: Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, Dermatology Unit, University of Modena and Reggio Emilia, Italy. Electronic address: giovanni.ponti@unimore.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ponti
authors.affiliation: Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, Dermatology Unit, University of Modena and Reggio Emilia, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Pellacani
authors.affiliation: Department of Diagnostic Medicine, Clinical and Public Health, University of Modena and Reggio Emilia, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Tomasi
authors.affiliation: Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, Dermatology Unit, University of Modena and Reggio Emilia, Italy.
authors.forename: Giuliano
authors.initials: G
authors.lastname: Sammaria
authors.affiliation: Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, Dermatology Unit, University of Modena and Reggio Emilia, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Manfredini
mesh_terms: D060432:Anthropology, Medical; D001478:Basal Cell Nevus Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000266:history* / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology*; D004534:Egypt / Q000453:epidemiology; D015870:Gene Expression; D005799:Genes, Dominant; D018095:Germ-Line Mutation; D006115:Greece / Q000453:epidemiology; D049673:History, 20th Century; D049690:History, Ancient; D006801:Humans; D000072081:Patched-1 Receptor / Q000235:genetics*; D015995:Prevalence; D012384:Rome / Q000453:epidemiology
chemical_list: C000606236:PTCH1 protein, human; D000072081:Patched-1 Receptor
keywords: Ancient Egypt; Gorlin–Goltz syndrome; Herculaneum; NBCCS; NBCCS history; PTCH1; Pompeii; Skeletal anomalies