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.

Skeletal stigmata as keys to access to the composite and ancient gorlin-goltz syndrome history. the egypt, pompeii and herculaneum lessons / Ponti, Giovanni; Pellacani, Giovanni; Tomasi, Aldo; Sammaria, Giuliano; Manfredini, Marco. - In: GENE. - ISSN 0378-1119. - 589:2(2016), pp. 104-111. [10.1016/j.gene.2016.01.012]

Skeletal stigmata as keys to access to the composite and ancient gorlin-goltz syndrome history. the egypt, pompeii and herculaneum lessons

PELLACANI, Giovanni;
2016

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.
2016
ancient egypt; gorlin–goltz syndrome; herculaneum; nbccs; nbccs history; ptch1; pompeii; skeletal anomalies
01 Pubblicazione su rivista::01a Articolo in rivista
Skeletal stigmata as keys to access to the composite and ancient gorlin-goltz syndrome history. the egypt, pompeii and herculaneum lessons / Ponti, Giovanni; Pellacani, Giovanni; Tomasi, Aldo; Sammaria, Giuliano; Manfredini, Marco. - In: GENE. - ISSN 0378-1119. - 589:2(2016), pp. 104-111. [10.1016/j.gene.2016.01.012]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1483738
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