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Skeletal Stigmata As Keys to Access to the Composite and Ancient Gorlin–Goltz Syndrome History: the Egypt, Pompeii and Herculaneum Lessons

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Skeletal Stigmata As Keys to Access to the Composite and Ancient Gorlin–Goltz Syndrome History: the Egypt, Pompeii and Herculaneum Lessons Gene 589 (2016) 104–111 Contents lists available at ScienceDirect Gene journal homepage: www.elsevier.com/locate/gene Research paper Skeletal stigmata as keys to access to the composite and ancient Gorlin–Goltz syndrome history: The Egypt, Pompeii and Herculaneum lessons Giovanni Ponti a,⁎, Giovanni Pellacani a,AldoTomasib, Giuliano Sammaria a, Marco Manfredini a a Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, Dermatology Unit, University of Modena and Reggio Emilia, Italy b Department of Diagnostic Medicine, Clinical and Public Health, University of Modena and Reggio Emilia, Italy article info abstract Article history: There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to cutaneous Received 30 July 2015 and visceral benign and malignant neoplasms. Gorlin–Goltz syndrome, also named nevoid basal cell carcinoma Received in revised form 5 January 2016 syndrome, is an autosomal dominant systemic disease with almost complete penetrance and high intra- Accepted 9 January 2016 familial phenotypic variability, caused by germline mutations of the gene PTCH1. The syndrome is characterized Available online 12 January 2016 by unusual skeletal changes and high predisposition to the development of multiple basal cell carcinomas, fi Keywords: odontogenic keratocysts tumors and other visceral tumors. The Gorlin syndrome, clinically de ned as distinct fi Gorlin–Goltz syndrome syndrome in 1963, existed during Dynastic Egyptian times, as revealed by a costellation of skeletal ndings com- NBCCS patible with the syndrome in mummies dating back to 3000 years ago and, most likely, in the ancient population Skeletal anomalies of Pompeii. These paleogenetic and historical evidences, together with the clinical and biomolecular modern ev- PTCH1 idences, confirm the quite benign behavior of the syndrome and the critical value of the multiple and synchro- NBCCS history nous skeletal anomalies in the recognition of these rare and complex genetic disease. Ancient Egypt © 2016 Elsevier B.V. All rights reserved. Pompeii Herculaneum 1. Introduction ovarian and cardiac fibromas, rhabdomyosarcomas) and unusual skele- tal changes (Kiwilsza and Sporniak-Tutak, 2012). The NBCCS classic There are several genetic diseases with a wide spectrum of congen- phenotype is characterized by the presence of specific bone abnormali- ital bone stigmata in association to cutaneous and visceral signs and ties of the skull (frontal and parietal bossing, macrocephaly, calcifica- symptoms. The recognition of the inherited skeletal abnormalities, par- tions of the falx cerebri, brain tumors and maxillary or mandibular ticularly when uncommon, constitute a critical tool to obtain an early keratocystic ameloblastomas) and of other skeletal segments (bifid recognition of these syndrome both in the archeological remains and ribs, syndactyly, polydactyly) that sometimes facilitate identification in the current population (Ponti et al., 2013a, 2013b). Among the hered- and clinical diagnosis (Kiwilsza and Sporniak-Tutak, 2012). The itary tumor syndromes associated to unique skeletal findings, Nevoid aforementioned abnormalities of the neurocranium and of the Basal Cell Carcinoma Syndrome (NBCCS; also known as Gorlin syn- splanchnocranium are the main cause of the NBCCS typical facies, char- drome; OMIM #109400) is an autosomal dominant skin disease with acterized by asymmetry, hypertelorism and fronto-parietal bossing, an almost complete penetrance and a high intra-familial phenotypic that sometimes is the only aid to an early clinical diagnosis (Fig.1). variability, caused by germline mutations of the gene PTCH1 (Lo The NBCCS estimated prevalence is 1 per 40–57,000 (Farndon et al., Muzio, 2008; Lo Muzio et al., 2013). The syndrome is characterized by 1992; Pratt and Jackson, 1987). In Italy, the incidence of the disease an increased predisposition to the development of multiple basal cell (1:256,000) (Lo Muzio et al., 2013) seems to be lower than in carcinomas (BCC) in association with odontogenic keratocystic tumors Australia (1:164,000) (Shanley et al., 1994) and the United Kingdom (OKT), ameloblastoma (AML), visceral tumors (medulloblastomas, (1:55,600) (Evans et al., 1993). Abbreviations: NBCCS, nevoid basal cell carcinoma syndrome; BCC, basal cell carcinoma; 2. From the first description of NBCCS to PTCH1 gene identification AML, ameloblastoma; OKC, odontogenic keratocystic tumor; CT, computerized tomography; ICOB, Index Cranico of Broca. The first description of a patient affected by the NBCCS was probably ⁎ Corresponding author at: Via del Pozzo n. 71, Department of Surgical, Medical, Dental published in 1894 when Jarisch described a 22-year old patient affected and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine; University of Modena and Reggio Emilia, Modena 41124, Italy. by short stature, milia, low mentality, marked scoliosis and multiple E-mail address: [email protected] (G. Ponti). basal cell carcinoma since the age of 14, one of these skin lesions having http://dx.doi.org/10.1016/j.gene.2016.01.012 0378-1119/© 2016 Elsevier B.V. All rights reserved. G. Ponti et al. / Gene 589 (2016) 104–111 105 Fig. 1. Pictures of patients (A–H) affected by NBCCS, reproduced from the original manuscript by Gorlin et al. (1965). the characteristics of ulcus rodens (Jarisch, 1894; White, 1894). The au- proposed by Gorlin in the 1965 were summarized in Table 1 (Fig.1). thor, in its original manuscript, described a series of patients affected by The developmental defects, described by Gorlin, that are distinctive of multiple skin lesions, most likely basal cell carcinomas, in association to the syndrome include: intracranial calcification, fused, bifid and splayed systemic anomalies, and probably the aforementioned 22-years old pa- ribs, calcifications of the falx cerebri and frontal bossing (Table 1). tient, was clearly affected by NBCCS, showing the main clinical and his- Gorlin's triad of original criteria was later enlarged with other addi- tological features of the syndrome. tional features such as other skeletal anomalies and the presence of A relationship between developmental defects and multiple basal palmo-plantar pits. The description of palmo-plantar pits was done by cell carcinoma was reported by Binkley and Johnson in 1951 (Binkley Calnan, that defined this feature as a peculiar dyskeratosis of the and Johnson, 1951), and Howell and Caro, 1959 (Howell and Caro, palms and soles (Calnan, 1953). More precisely, these alterations are 1959). Only in 1960, Gorlin and Goltz described that the association of caused by the partial or complete absence of the stratum corneum in multiple nevoid basal cell carcinoma, cysts of the jaw and skeletal areas with diameter from 1 to 3 mm. anomalies, most commonly bifid rib, was consistent enough to consider Diagnostic NBCCS clinical criteria were defined by Evans DG (Evans their occurrence as a distinct syndrome (Gorlin and Chaudhary, 1960; et al., 1993) and revised by Kimonis in 1997 (Kimonis et al., 1997). Ac- Gorlin et al., 1963). The clinical criteria for the diagnosis of NBCCS cording to Kimonis et al., two major or one major and two minor criteria should be present for the diagnosis of NBCCS (Table 2). Among the five major criteria the bone stigmata comprise the lamellar calcification of Table 1 the falx cerebri under age 20 and the histologically confirmed NBCCS signs and symptoms with their relative frequency proposed by Gorlin R in 1963. odontogenic (jaw) keratocyst; among the seven minor criteria the skel- From the original tabulation we here report only the skin, oral and skeletal manifestations. etal abnormalities include the macrocephaly, the cleft lip/palate and Signs and symptoms Relative frequency Skin A1 Multiple nevoid basal-cell carcinoma +++ Table 2 A2 Palmar dyskeratosis (porokeratosis of Mantoux) ++ Diagnostic criteria for NBCCS proposed by Kimonis in 2004 (2 major or 1 major A3 Milia; cysts, especially extremities ++ and 2 minor criteria, or a first degree relative with NBCCS and 1 major or 2 mi- A4 Fibromas and/or neurofibromas, especially extremities + nor features). Oral manifestations Major criteria B1 Multiple jaw cysts +++ More than 2 BCCs or one BCC under the age of 20 years B2 Mild mandibular prognathism ++ Odontogenic keratocysts of the jaw proven by histology B3 Fibrosarcoma jaws (?) + Three or more palmar or plantar pits B4 Ameloblastoma + Lamellar calcification of the falx cerebri Rib anomalies (bifid, synostosed, hypoplastic) Skeletal system Ovarian fibroma fi C1 Rib: bi d, synostosis, partial agenesis, or cervical rudimentary +++ Medulloblastoma C2 Vertebrae: scoliosis, cervical or thoracic fusion ++ Flame shaped lucencies of the phalanges C3 Frontal and biparietal bossing ++ Brachymetacarpaly in all 4 limbs C4 Shortened metacarpals ++ First degree relative with NBCCS C5 Deformed chest + Minor features Central nervous system Any one of the following features: fi D3 Calcification dura (falx, tentorium) choroid ++ Spina bi da occulta or other vertebral anomalies Brachymetacarpaly in at least one limb Eye Hypertelorism or telcanthus Dystopia canthorum, hypertelorism ++ Frontal bossing 106 G. Ponti et al. / Gene 589 (2016) 104–111 vertebral/rib anomalies including bifid vertebrae/ribs, extra ribs, and/or population vs. estimated prevalence of 26% in the NBCCS patients) splayed ribs. (Kimonis et al., 2004, Lo Muzio, 2008), and suggested their inclusion as However,
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