Gene 589 (2016) 151–156
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Gene
journal homepage: www.elsevier.com/locate/gene
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
a r t i c l e
i n f o
Article history:
Received 23 February 2016
Received in revised form 16 April 2016
Accepted 18 April 2016
Available online 20 April 2016
Keywords:
Wall paintings portrait
Gorlin–Goltz syndrome
NBCCS
Skeletal anomalies
PTCH1
NBCCS history
Pompeii
a b s t r a c t
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 Dynastic Egyptian times, as revealed by a spectrum of skeletal findings compatible with the syndrome in mummies dating 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 craniometric 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.
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 provide an additional source of information about Pompeian bioanthropologic 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
Abbreviations: AD, Anno Domini; NBCCS, Nevoid basal cell carcinoma syndrome; CTscan, 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: [email protected] (G. Ponti).
http://dx.doi.org/10.1016/j.gene.2016.04.038
0378-1119/© 2016 Elsevier B.V. All rights reserved.
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 discovered ostheological collections. Nicolucci was the author of the first official 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. Regarding the Pompeian skull collection, he stated that “some skulls were globular, 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 belonging to the slaves at the service of the wealthy citizens of Pompeii.
Nicolucci described the population of Pompeii in 79 AD as heterogeneous, 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 generally take a more or less ogival or pointed arch form” (Fig. 2). The idea of a
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components in a human face, starting from a naked skull. Although fascinating, these modern techniques cannot produce a reliable picture of
the original human face, because of the lack of available information
about soft tissues. However, also reconstruction studies documented
the frontal bone stigmata mentioned above (Abate et al., 2004).
With the advent of paleogenetics and paleopathology, researchers
aim to the genetic and genomic characterization of the osteological
samples. The analysis of mitochondrial and nuclear DNA sequences
that already contributes to determine the parental relationships (Di
Bernardo et al., 2009) might also play a role in confirming a clinical
diagnosis based on the skeletal stigmata.
2. Skull features and Gorlin–Goltz Syndrome stigmata in the Pompeii osteologic collection
Fig. 1. Wall paintings portrait of Paquius Proculo and his wife. In this picture, a detailed
representation of the committee is provided with realistic traits.
heterogeneous but mainly autochthonous population diverged from the
previous study of the anthropologist Stefano Delle Chiaie, who
theorized in 1853 the presence of multiple ethnical groups in the city
of Pompeii. The assertions of Delle Chiaie were based on the historical
reports that narrated the conspicuous amount of slaves of African or
Eastern descent among the most humble locals (Delle Chiaie, 1854).
More anthropological studies have focused on the craniometrical
features of the osteological collections hoarded in the archeological
site of Pompeii (D'Amore, 1979; Laser, 2011). The modern 3D computer
tomography applied to the study of molds and cranial skeletal segments
have recently started to contribute to a better anthropometric characterization (Abate et al., 2004); in particular, CT-scan could improve
the estimation of craniometrical indexes and hereby the reproduction
of a “Pompeian facies” through facial reconstruction tools. The field of
digital reconstruction involves both scientific and artistic techniques
that are able to recreate accurate reproductions of soft-tissues
Several genetic syndromes present distinctive skeletal semeiological
signs; for example, facial asymmetry, hypertelorism, frontal and parietal
bossing typically affect the facies of patients carrying a germline mutation of PTCH1 gene. This genetic signature belongs to patients with
Gorlin–Goltz syndrome, also named nevoid basal cell carcinoma syndrome (NBCCS), and features an autosomal dominant systemic disease
with almost complete penetrance and high intra-familial phenotypic
variability. NBCCS is an uncommon disease, with estimated prevalence
of 1/57,000 to 1/256,000, that is clinically diagnosed when a constellation of signs are identified, in particular in the presence of a) two
major criteria, b) one major criteria and the molecular confirmation,
or c) one major and two minor criteria. Major criteria are excessive
number of basal cell carcinomas, odontogenic keratocysts, palmoplantar
pits, calcification of the falx cerebri, medulloblastoma and first-degree
relative with Gorlin–Goltz syndrome. Minor criteria are rib anomalies,
other specific skeletal malformations and radiologic changes (i.e. vertebral anomalies, kyphoscoliosis, short 4th metacarpals, postaxial polydactyly), macrocephaly, cleft lip and/or palate, ovarian/cardiac
fibroma, lymphomesenteric cysts, ocular abnormalities (Table 1)
(Larsen et al., 2014).
The combination of concomitant skeletal abnormalities in multiple
anatomic sites of involvement is an important aid to the diagnosis of
Fig. 2. Pictures of selected skull acquired at the Sarno Baths archeological skeletal collection of Pompeii, showing the typical NBCCS-associated alterations. Reproduced with the permission
of the Special Superintendence for the Archaeological Remains of Pompeii.
G. Ponti et al. / Gene 589 (2016) 151–156
Table 1
Clinical diagnostic criteria for NBCCS.
NBCCS clinical diagnosis: a) two major criteria, b) one major criteria and molecular
confirmation, or c) one major and two minor criteria.
Major criteria
1. Excessive numbers of basal cell carcinomas
2. Odontogenic keratocysts of the jaws (b20 years old)
3. Palmar or plantar pitting
4. Calcification of the falx cerebri
5. Medulloblastoma
6. First-degree relative affected
Minor criteria
1. Rib anomalies
2. Other specific skeletal malformations and radiologic changes
3. Macrocephaly
4. Cleft lip and/or palate
5. Ovarian/cardiac fibroma
6. Lymphomesenteric cysts
7. Ocular abnormalities
NBCCS, which can be made when at least one major and two minor
criteria are satisfied (Gorlin and Chaudhary, 1960; Gorlin et al., 1963;
Lo Muzio et al., 2013). The skeletal semeiological signs that characterize
NBCCS phenotype, such as the presence of frontal and parietal bossing,
macrocephaly and calcifications of the falx cerebri, are the result of
the corresponding alterations of the neuro- and splanchnocranium during the embryonic development (Fig. 2) and are an important clue for
the clinical diagnosis of NBCCS.
As usually happening in the history of science, the Gorlin–Goltz syndrome was clinically defined as a specific entity in 1960 [9] but was
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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).
A previously published study at the University of Modena and Reggio Emilia, in collaboration with the Special Superintendence of the archaeological remains of Pompei, was conducted in order to
characterize the clinical features of the skeletal remains collected in
the Forum Baths from Pompeii archaeological site. The anthropometric
analysis of the skeletal remains was aimed to the identification of the
likely presence of hereditary syndromes (especially the Gorlin syndrome) affecting the roman population in A.D. 79. The specific aim of
the study was the identification of the skeletal alteration characteristic
of the NBCCS (Ponti et al., 2016).
At the archaeological bone collection of Pompeii, our recent analysis
conducted on the about 200 skulls stored in both the Forum Baths and
Sarno Baths allowed to define a significant heterogeneity of the anthropometric cranial parameters as such as a vast percentage of dolicocranic
skulls with some individuals having hyperdolicocranic skulls. It was
among the dolicocranic and hyperdolicocranic portion of the population
that some skulls presented different non-metric traits, such as frontoparietal bossing and macrocephaly, characteristics of the NBCCS
(Fig. 2). This observation, of a high frequency of macrocephaly and frontal bossing in the population of Pompeii, lead us to hypothesize that different individuals of the Pompeii population were affected by NBCCS.
Considering the rarity and the low frequency of the syndrome, it is highly improbable that all specimens of frontal bossing observed in the
Fig. 3. (a) Wall paintings portrait of young man from Pompei restoration laboratory; (b) boy dead prematurely represented as Adone; House of Successus, Pompei; (c) “Male portrait” on
glass (I secolo d.C.), from Pompei. Napoli, Museo Nazionale inv. 132,424 (foto AFP MN 1369); (d–e–f) Wall paintings portraits of women with syndrome-like facial characteristics, from
Villa dei Misteri, Pompei.
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Fig. 4. (a) Wall painting portraits of man with distinctive frontal traits from Stabia. (b) Wall painting portrait of a young man showing distinctive frontal traits from Herculaneum. Both wall
paintings portraits are exposed at the National Museum of Naples.
osteological collections are due to a genetic defect. It is therefore to postulate that this somatic trait of the frontal bones was common in the
original Pompeian population as a characteristic finding. This hypothesis can be evaluated by the analysis of the somatic traits of wall paintings
and mosaic portrait of Pompeian local models.
3. The contribution of wall paintings portrait to bioanthropologic studies
Not only Nicolucci and Delle Chiaie, but also the previous superintendent of Pompei Prof. Conticello saw in the Pompeian portraits an important resource for the integration of anthropometric analysis. His
studies focused on the wall paintings from Villa of P. Fannius Synistor
in Boscoreale (Conticello, 1987).
There has been debate within the scientific community concerning
the effective percentage of reality and idealization in the portrayed
faces; although, it is difficult to ascertain whether Pompeian paintings
represent real portraits or idealized images, in our opinion various
wall paintings of local models showed frontal bossing and mild
macrocephaly.
Our analysis of different portraits (Figs. 1,3,4) highlights the
presence of numerous examples of frontal and supraorbital bossing of
individuals of both genders, a fact that reflects the data observed in
the macroscopical examination of skulls belonging to the local collections. The famous portrait of a Pompeian man depicted on an oval
glass is emblematic of the well-documented frontal bossing on the
skulls collected in the Pompeian osteological collection (Fig. 3c). Local
portraits from Herculaneum and Stabia share common distinctive facial
traits, in particular regarding the frontal region (Fig. 4). The same
cranio-facial features can be deduced even by some sculptures and
coins of Roman emperors which showed familial frontal bossing traits
(Fig. 5).
A major limit in diagnosing syndromical criteria osteological collections is represented by the disarticulated nature of the samples, as it is
for the Pompeian ones. Even though isolated skull anomalies do not
lead unequivocally to the NBCCS diagnosis, the high frequency of the
syndromic abnormalities in the dolichocranic population represents
an important clue to hypothesize that at least some individuals were affected by NBCCS. In particular, some skulls were affected by marked
frontal and parieto-occipital bossing asymmetry of the cranial base,
and presence of multiple odontogenic cysts in the mascellary bone
(signs already described by Gorlin in 1963). The analysis of the corresponding mandibles and ribs would be of great scientific value, but
unfortunately, it was not possible to match all of them with their skulls.
In fact, even though frontal bossing is an important criteria for NBCCS
recognition, in the specific setting of the ancient roman population, it
Fig. 5. Sculptures and coins of a dynasty of Roman emperors showing typical NBCCS
cranio-facial stigmata: (a) Gordonio I, sculpture; (b) Gordonio I, coin; (c) Gordonio II,
sculpture; (d) Gordonio II, coin; (e, f) Gordonio III, sculpture.
G. Ponti et al. / Gene 589 (2016) 151–156
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Fig. 6. Wall painting portrait found in the House of Adonis, where the represented individual, probably Hermaphrodites, displays clinical signs of Hyperostosis Frontalis Interna (HFI).
probably should be associated to other main cranio-facial criteria in
order to establish a clinical NBCCS diagnosis. The relatively high frequency of skull anomalies in the ancient Pompeiian population should
be critically interpreted; in fact, not all frontal bossings are necessarily
associated to NBCCS or genetic diseases. If we consider the estimated
prevalence of NBCCS, we would expect a presence of maximal 1–2
cases in the Pompeiian population of the time, while we noticed the
cranio-facial features in at least 3–4 skulls and numerous portraits. Of
course, the prevalence of the syndrome could have been diluted over
the centuries, thanks to the increasing genetic exchanges. Moreover,
it is possible that other genetic scenarios have been responsible for
the examined cranio-facial phenotypes. For example, the portrait
showed in Fig. 3d might be shown in a description of Holt–Oram syndrome, which is characterized by frontal bossing, triangular face,
micrognathia, down-slanting palpebral fissures, hypertelorism,
low-set ears (Lichiardopol et al., 2007). Additionally, we could also
take the example of Noonan syndrome, with ocular hypertelorism,
epicanthal folds, ptosis, micrognathia, depressed nasal root, and
low-set, posteriorly rotated ears (pinnae). Another disorder that
might be taken into account in the series of differential diagnosis of
frontal bossing is Hyperostosis Frontalis Interna (HFI), which is characterized by bilateral, symmetrical deposits of bone overgrowth on
the inner table of the frontal bone. The HFI was first documented in
the medical literature 300 years ago and was then associated to the
clinical disorder known as Stewart–Morel–Moore syndrome (May
et al., 2010). This condition usually occurs in elderly females and may
be associated with a disorder in hormonal balance (Hershkovitz et al.,
1999). Laser E. assumed the incidence of HFI in the Pompeian population with an approximate prevalence of 11.1–11.9%, since 43 out of
360 analyzed skulls showed HFI features (Laser, 1996). The same author
additionally described a portrait found in the House of Adonis, where
the represented individual, probably Hermaphrodites, displays clinical
signs of HFI (Fig. 6).
to formulate hypothesis on the presence of specific genetic syndromes
in past centuries, where medicine was moving its first steps and was
far away from imaging genetic sequencing.
The relatively high frequency of frontal bossing in wall painting portraits should be critically interpreted in order to argue an NBCCS phenotype among the ancient population. It is highly improbable that NBCCS is
responsible for all facial modifications displayed in the portraits, since
the prevalence is estimated around 1/57,000–1/256,000 (at least in contemporary times). Our scientific imagination can, however, be captured
by many other syndromes sharing frontal bossing with the phenotype
described by Gorlin, for example, Noolan syndrome, Holt–Oram syndrome, Crouzon syndrome, Hurler syndrome, Pfeiffer syndrome, Rubinstein–Taybi syndrome, Russell–Silver syndrome, HFI, and many others.
We shouldn't forget the changing in esthetic canons and the ability of
the local artists as confounding factors. However, when associated to
the hypertelorism and facial asymmetry, the feature may be in favor of
a NBCCS. This would change our data regarding the prevalence of these
syndromes, that reflect the actual data but do not take into account the
reduced genetic variability of populations in ancient times.
What we should remember is that wall paintings and other forms of
portraying the indigenous human features (such as sculptures and mosaics) represent a rich source of scientific data, when correlated to the
human remains. In particular, the correlation of local portraits and osteological collections may help to reconstruct the bio-anthropological information and to assume the presence of distinct congenital diseases in
the ancient times. Future aims will be the determination of the mutational status of PTCH1, after the laboratory procedures of ancient DNA
extraction. PTCH1 gene sequencing from ancient DNA, extracted from
distinct skulls and/or mummified bodies, might be able to allow the
NBCCS biomolecular diagnosis and a phylogenetic analysis as well as a
study of founder effects of the mutations.
Acknowledgments
4. Conclusion
The anthropometric data evinced from the local osteological collections can be correlated to the facial features of local Pompeian wall portraits, which usually reflect the common traits in the population of the
time, as well as the esthetics canons. These considerations can be used
We thank Prof. Massimo Osanna (general director of Pompei
Soprintendence), and Dr. Ernesto De Carolis, the head of the Applied
Biology Laboratory of Pompei. We thank Prof. Umberto Pappalardo
(Suor Orsola Benincasa University) for his contribution regarding the
acquisition and analysis of some wall painting cited in the manuscript.
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References
Abate, A.F., Nappi, M., Ricciardi, S., Tortora, G., 2004. FACES:3D FAcial reconstruction from
ancient skulls using content based image retrivial. J. Vis. Lang. Comput. 15, 373–389.
Boano, R., Fulcheri, E., Rabino Massa, E., 2006. A case of bidid rib from the G. Marro
Egyptian osteologic collection. J. Biol. Res. LXXXI (1), 109–111.
Bukvic, N., Elling, J.W., 2015. Genetic in art and art in genetics. Genetics in the art and art
in genetics. Gene 555, 14–22 (15).
Conticello, B., 1987. Villa dei misteri. FMR/Museum, Milan, p. 35.
D'Amore, C., 1979. Primi risultati degli studi sull'antropologia Pompeiana del 79d.C. La
Regione sotterrata del Vesuvio: Studi e prospettive. Atti del Convegno 11-15 Nov
1982. Università degli Studi di Napoli, pp. 927–943.
Delle Chiaie, S., 1854. Cenno notomico-patologico sulle ossa umane scavate in Pompei.
Filiatre Sebezio, Napoli.
Di Bernardo, G., Del Gaudio, S., Galderisi, U., Cascino, A., Cipollaro, M., 2009. Ancient DNA
and family relationships in a Pompeian house. Ann. Hum. Genet. 73 (Pt 4), 429–437.
Gorlin, R.J., Chaudhary, A.P., 1960. Multiple osteomatosis, fibromas, lipomas and fibrosarcomas of the skin and mesentery, epidermoid inclusion cysts of the skin, leiomyomas
and multiple intestinal polyposis: a heritable disorder of connective tissue. N. Engl.
J. Med. 8 (263), 1151–1158.
Gorlin, R.J., Yunis, J.J., Tuna, N., 1963. Multiple nevoid basal cell carcinoma, odontogenic
keratocysts and skeletal anomalies. A syndrome. Acta Derm. Venereol. 43, 39–55.
Hershkovitz, I., Greenwald, C., Rothschild, B.M., Latimer, B., Dutour, O., Jellema, L.M., WishBaratz, S., 1999. Hyperostosis frontalis interna: an anthropological perspective. Am.
J. Phys. Anthropol. 109 (3), 303–325 (Jul).
Larsen, A.K., Mikkelsen, D.B., Hertz, J.M., Bygum, A., 2014. Manifestations of Gorlin–Goltz
syndrome. Dan. Med. J. 61 (5), A4829.
Laser, E., 1996. Revealing secrets of a lost city. Med. J. Aust. 165, 620–623.
Laser, E., 2011. Resurrecting Pompei. Routledge, New York.
Lichiardopol, C., Militaru, C., Popescu, B., Hila, G., Mixich, F., 2007. Holt–Oram syndrome.
Romanian J. Morphol. Embryol. 48 (1), 67–70.
Lo Muzio, L., Pastorino, L., Levanat, S., Musani, V., Situm, M., Ponti, G., Bianchi Scarra, G.,
2013. Clinical utility gene card for: Gorlin syndrome—update 2013. Eur. J. Hum.
Genet. 21 (10).
May, H., Peled, N., Dar, G., Abbas, J., Medlej, B., Masharawi, Y., Hershkovitz, I., 2010.
Hyperostosis frontalis interna and androgen suppression. Anat. Rec. (Hoboken) 293
(8), 1333–1336.
Nicolucci, G., 1882. Crania pompeiana ovvero descrizione de’ crani umani rinvenuti fra le
ruine dell'antica Pompei. Tipografia Dell'Accademia Reale Delle Scienze, Napoli.
Pappalardo, U., 2001. Henri LAVAGNE, Jeunesse de la Beauté. La peinture romaine antique,
Paris (Ars Latina).
Pappalardo, U., 2004. Eleganz, Lässigkeit und Intellektualität. Porträts aus der
kaiserzeitlichen PompejiAntike Welt 4, pp. 91–96.
Pappalardo, U., 2007. Il ritratto romano dipinto. Quaderni Studi Pompeiani 1. Clavis,
Roma, pp. 11–18.
Ponti, G., Ruini, C., Pastorino, L., Loschi, P., Pecchi, A., Malagoli, M., Mandel, V.D., Boano, R.,
Conti, A., Pellacani, G., Tomasi, A., 2014. 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. Future Oncol. 10 (6), 917–925.
Ponti G, Pellacani G, Tomasi A, Sammaria G, Manfredini M. 2016 Skeletal stigmata as keys
to access to the composite and ancient Gorlin-Goltz syndrome history: The Egypt,
Pompeii and Herculaneum lessons. Gene (Jan 12).