Skeletal and Cranio-Facial Signs in Gorlin Syndrome from Ancient Egypt to the Modern Age: Sphenoid Asymmetry in a Patient with a Novel PTCH1 Mutation

Abstract

Gorlin syndrome is an autosomal dominant disorder linked to PTCH1 mutation, identified by a collection of clinical and radiologic signs. We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome including multiple basal cell carcinomas, keratocystic odontogenic tumors, atypical skeletal anomalies and a novel PTCH1 germline mutation (c.1041delAA). Craniofacial and other skeletal anomalies displayed at 3D and helical CT scan were: macrocephaly, positional plagiocephaly, skull base and sphenoid asymmetry, bifidity of multiple ribs and giant multilocular odontogenic jaw cysts. Extensive multilamellar calcifications were found in falx cerebri, tentorium, falx cerebelli and in the atlanto-occipital ligament. The inclusion of bifid ribs as a novel major criteri may be useful for the recognition and characterization of misdiagnosed cases

Desmoplastic Melanoma: A Challenge for the Oncologist

“…The significance of dermal elastosis in LMM has been previously analyzed by limited studies [41,42] and it is of crucial importance to define if UV damage is the unique agent responsible for the collagen dermal alterations seen in LMM and DM, or if elastosis and fibrotic dermal grenz zone, observed in these tumors, are the results of a complex interplay between tumor cells and stromal microenvironmental factors. As it was previously demonstrated, fibroblasts play an important role in many tumors, acting as a promoter or a sustainer of epithelial cancerogenesis as for PTCH1mutated fibroblasts in Gorlin-Goltz syndrome, which were able to induce and promote the epithelial basal cell carcinoma development [43].…”

Skeletal stigmata as keys to access to the composite and ancient Gorlin–Goltz syndrome history: The Egypt, Pompeii and Herculaneum lessons

“…2). In the same study, in addition to the sphenoid asymmetry, we focused our attention on the value of bifid ribs, which are very uncommon in the general populations (estimated prevalence of 0.15-3.4% in the general population vs. estimated prevalence of 26% in the NBCCS patients) (Kimonis et al, 2004, Lo Muzio, 2008, and suggested their inclusion as a novel major criteria which may be useful for the recognition and characterization of misdiagnosed cases (Ponti et al, 2014) (Fig 2).…”

“…The specimens were collected during the excavation of the Italian Archeological Mission in Egypt (1903Egypt ( -1937, under the direction of the Turin Egyptian Museum. The collection consists of mummified specimens (20 complete mummies and 80 heads) and bones (650 complete skeletons and 1300 isolated skulls) (Leigh, 1934;Boano et al, 2006;Ponti et al, 2014).…”

Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past?

“…As usually happening in the history of science, the Gorlin-Goltz syndrome was clinically defined as a specific entity in 1960 [9] but was almost certainly present in the human race at the times of the ancient Egyptians (Boano et al, 2006;Ponti et al, 2014). The statement is based on a spectrum of skeletal findings compatible with the syndrome found in mummies dating back to three thousand years ago and, most likely, in the skeletal collection of the ancient population of Pompeii and Herculaneum (Ponti et al, 2014).…”