Research paper Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past? Giovanni Ponti d, ⁎, Marco Manfredini a , Cristel Ruini b,c a Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, Dermatology Unit, University of Modena and Reggio Emilia, Modena 41124, Italy b Department of Dermatology, Staedtisches Klinikum Muenchen, Munich, Germany c Department of Dermatology and Allergology, Ludwig Maximilian University, Munich, Germany d Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, Clinical Pathology Unit, University of Modena and Reggio Emilia, Modena, Italy abstract article info Article history: Received 23 February 2016 Received in revised form 16 April 2016 Accepted 18 April 2016 Available online 20 April 2016 The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies. There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to distinctive facial features. Gorlin–Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1. The Gorlin syndrome, clinically defined in 1963, existed during Dynas- tic Egyptian times, as revealed by a spectrum of skeletal findings compatible with the syndrome in mummies dat- ing back to three thousand years ago and, most likely, in the ancient population of Pompeii. In the present research, we discuss the potential relationship between Pompeian wall paintings portrait and the cranio- metric bone changes revealed among the Pompeian skull collections assuming that the ancient portraits can constitute an important tool that should be strictly integrated with osteologic and biomolecular data in order to argue a syndromic diagnosis in ancient population. © 2016 Elsevier B.V. All rights reserved. Keywords: Wall paintings portrait Gorlin–Goltz syndrome NBCCS Skeletal anomalies PTCH1 NBCCS history Pompeii 1. Introduction Figurative art is closely linked to disease through disease affecting subjects of paintings. There are several examples of artists that have portrayed genetic disorders and malformations in their work (Bukvic and Elling, 2015). A special setting of wall paintings ancient portraits have been collected during the excavation of Pompeii, Herculanem, and Stabia. The well-preserved wall paintings found in Pompeii can pro- vide an additional source of information about Pompeian bio- anthropologic studies. Not only mythological scenes were depicted, but also several local models enriched the colored representations of daily life on the paintings. The faces of many effective members of the local society settled the walls of the city; being portrayed by a local artist already signaled a high status quo. See for example the wall painting portraits of Pasquius Proculis and his wife, which is emblematic of local models in Pompeian pictures (Pappalardo, 2001, 2004, 2007) (Fig. 1). The role of figurative arts in supplementing bio-anthropological studies had already been hypothesized by Giustiniano Nicolucci, the founder of the Institute of Anthropology of the University of Naples, in the 19th century; the Italian anthropologist examined the portraits on the walls of the Pompeian domus to obtain useful information that could complement his anthropometric studies on the recently discov- ered ostheological collections. Nicolucci was the author of the first offi- cial publication on the human skeletal remains of Pompeii published in 1882. He included a plate of lithographs in his work, which described as “faithful reproduction” of facies from Pompeian wall paintings. Regard- ing the Pompeian skull collection, he stated that “some skulls were glob- ular, other ovoid and a few were oblong in form”; the last type of skull observed in this work was interpreted as of African origin, probably be- longing to the slaves at the service of the wealthy citizens of Pompeii. Nicolucci described the population of Pompeii in 79 AD as heteroge- neous, but mainly autochthonous (Nicolucci, 1882). Carefully examining the anatomical features of the skulls in the collection, Nicolucci observed “lack or minimal protrusion of the frontal sinuses” and described it as the typical trait of the “Pompeian type,” for which he noticed that “the top of the frontal bone was observed to gener- ally take a more or less ogival or pointed arch form” (Fig. 2). The idea of a Gene 589 (2016) 151–156 Abbreviations: AD, Anno Domini; NBCCS, Nevoid basal cell carcinoma syndrome; CT- scan, Computer tomography. ⁎ Corresponding author at: Via del Pozzo n. 71, Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, 41124, Italy. E-mail address: giovanni.ponti@unimore.it (G. Ponti). http://dx.doi.org/10.1016/j.gene.2016.04.038 0378-1119/© 2016 Elsevier B.V. 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