We present a family case series with 10 individuals having nevoid basal cell carcinoma syndrome (NBCCS) with a 10-year follow-up. All articles published in the literature between 1967 and 2011 on familial Gorlin-Goltz syndrome in any language were surveyed to determine the mapping of cases per country of occurrence of this disease. All patients in the present series were presented with calcification of the falx cerebri, mild hypertelorism, and frontal bossing. Odontogenic keratocystic tumors, palmar and plantar pits, and multiple basal cell carcinomas occurred in 90, 40, and 20%, respectively, of the patients. One of the patients died of skin cancer. Diagnosis of odontogenic keratocyst tumors was confirmed by histopathological examination. NBCCS is a rare autosomal dominant cancer predisposition syndrome; it is important to recognize it when a patient has multiple odontogenic keratocyst tumors because life-long monitoring is essential for patient management.
LeeYWRohBHKiCS, et al. Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndromeClin Exp Dermatol2007322202–203
2.
EvansDGFarndonPABurnellLDGattamaneniHRBirchJMThe incidence of Gorlin syndrome in 173 consecutive cases of medulloblastomaBr J Cancer1991645959–961
3.
GundlachKKKiehnMMultiple basal cell carcinomas and keratocysts - the Gorlin and Goltz syndromeJ Maxillofac Surg197974299–307
4.
HabibiAJafarzadehHNevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991-2008)J Oral Pathol Med2010399677–680
5.
GorlinRJGoltzRWMultiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndromeN Engl J Med1960262908–912
6.
KimonisVEGoldsteinAMPastakiaB, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndromeAm J Med Genet1997693299–308
7.
Shafei-BenaissaESavageJRBabinP, et al. The naevoid basal-cell carcinoma syndrome (Gorlin syndrome) is a chromosomal instability syndromeMutat Res19983972287–292
8.
HahnHWickingCZaphiropoulousPG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndromeCell1996856841–851
9.
RoudgariHFarndonPAMurrayADHardyCMiedzybrodzkaZIs PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case reportClin Genet201282171–76
10.
SaldanhaGThe Hedgehog signalling pathway and cancerJ Pathol20011934427–432
11.
ZedanWRobinsonPAHighASA novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesionsDiagn Mol Pathol200110141–45
ZhangTChenMLüYXingQChenWA novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndromeBiochem Biophys Res Commun20114092166–170
14.
FanZLiJDuJ, et al. A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese familyJ Med Genet2008455303–308
15.
LüYZhuHGYeWMZhangMBHeDChenWTA new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndromeChin Med J (Engl)20081212118–121
16.
FujiiMNoguchiKUradeM, et al. Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastomaJ Hum Genet2011564277–283
17.
AbeSKabashimaKSakabeJ, et al. Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndromeActa Derm Venereol2008886635–636
18.
OtsuboSHonmaMAsanoKTakahashiHIizukaHA novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma?J Dermatol Sci2008512144–146
19.
MatsuzawaNNagaoTShimozatoKNiikawaNYoshiuraKIPatched homologue 1 mutations in four Japanese families with basal cell nevus syndromeJ Clin Pathol200659101084–1086
20.
Le Brun KerisYJoukPSSaada-SebagG, et al. Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndromeEur J Med Genet2008515472–478
21.
PastorinoLGhiorzoPNastiS, et al. Identification of a SUFU germline mutation in a family with Gorlin syndromeAm J Med Genet A2009149A71539–1543
22.
MeloESKawamuraJYAlvesCANunesFDJorgeWACavalcantiMGImaging modality correlations of an odontogenic keratocyst in the nevoid basal cell carcinoma syndrome: a family case reportOral Surg Oral Med Oral Pathol Oral Radiol Endod2004982232–236
23.
Jose TincaniASantos MartinsAGomes AndradeRFranco MelloEJJrCamargo BuenoMANevoid basal-cell syndrome: literature review and case report in a familySao Paulo Med J19951133917–921
24.
MusaniVGorryPBasta-JuzbasicAStipicTMiklicPLevanatSMutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNTInt J Mol Med2006175755–759
25.
TottenJRThe multiple nevoid basal cell carcinoma syndrome. Report of its occurrence in four generations of a familyCancer19804661456–1462
26.
HeimlerAFriedmanERosenthalADNaevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a familyJ Med Genet1978154288–291
27.
FitzpatrickPJThompsonGAGorlin's syndrome, or nevoid basal cell carcinoma syndromeCan Med Assoc J19821276465–470
28.
WallaceDCMurphyKJKellyLWardWHThe basal cell naevus syndrome. Report of a family with anosmia and a case of hypogonadotrophic hypopituitarismJ Med Genet197310130–33
29.
FujiiKSugitaKWatanabeTTakanashiJNiimiHA familial case of Gorlin syndrome [in Japanese]No To Hattatsu1996283257–260
MazzolaGGaliotoVMazzolaUGorlin-Gotz syndrome in 3 patients from the same family monitored from 1993 to 1999 [in Italian]Minerva Stomatol2000494197–203
32.
ChungCHWongTYShiehTYShiehDBChaoSCNevoid basal cell carcinoma syndrome - clinical manifestations and mutation analysis of a Taiwanese familyJ Formos Med Assoc200310211793–797
33.
ZmakMDobricPMedicaIGorlin syndrome: a report on a familyMinerva Pediatr1994465217–219
34.
UjpálMSzabóGFamilial occurrence of Gorlin-Goltz syndrome [in Hungarian]Fogorv Sz1992857209–212
35.
GoldsteinAMPastakiaBDiGiovannaJJ, et al. Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC)Am J Med Genet1994503272–281
36.
McLoughlinPMDickensonAJAveryBSGorlin's syndrome and von Recklinghausen's disease occurring in one familyBr J Oral Maxillofac Surg1991293189–193
37.
LovinJDTalaricoCLWegertSLGaynorLFSutleySSGorlin's syndrome with associated odontogenic cystsPediatr Radiol1991218584–587
38.
EvansDGBirchJMOrtonCIBrain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndromeBr J Neurosurg199156643–646
39.
TasanenALambergMANordlingSSkeletal anomalies and keratocysts in the basal cell nevus syndromeInt J Oral Surg197546225–235
GartmannHGrothWQuinklerCMultiple basaloid follicular hamartomas in 2 members of a family with Gorlin-Goltz syndrome [in German]Z Hautkr19896410915–918
42.
RauschETrödhanAPortederHMultiple keratocysts suggesting the presence of Gorlin-Goltz syndrome: report of 3 patients in a family [in German]Z Stomatol1989865275–277
AszterbaumMRothmanAJohnsonRL, et al. Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndromeJ Invest Dermatol19981106885–888
45.
SasakiRMiyashitaTMatsumotoNFujiiKSaitoKAndoTMultiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case reportOral Surg Oral Med Oral Pathol Oral Radiol Endod20101102e41–e46
GorlinRJVickersRAKellenEWilliamsonJJMultiple basal-cell nevi syndrome. An analysis of a syndrome consisting of multiple nevoid basal-cell carcinoma, jaw cysts, skeletal anomalies, medulloblastoma, and hyporesponsiveness to parathormoneCancer19651889–104
51.
ShandJMHeggieAACysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndromeOral Maxillofac Surg Clin North Am2005174403–414
52.
WoolgarJARippinJWBrowneRMA comparative histological study of odontogenic keratocysts in basal cell naevus syndrome and control patientsJ Oral Pathol198716275–80
53.
AvelarRLAntunesAASantos TdeSAndradeESDouradoEOdontogenic tumors: clinical and pathology study of 238 casesBraz J Otorhinolaryngol2008745668–673
54.
MorganTABurtonCCQianFA retrospective review of treatment of the odontogenic keratocystJ Oral Maxillofac Surg2005635635–639
55.
YagyuuTKiritaTSasahiraTMoriwakaYYamamotoKKuniyasuHRecurrence of keratocystic odontogenic tumor: clinicopathological features and immunohistochemical study of the Hedgehog signaling pathwayPathobiology2008753171–176
56.
FriedrichREScheuerHAZustinJExpression of podoplanin in nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumoursAnticancer Res20123252125–2127
57.
BorgonovoAEDi LasciaSGrossiGMaioranaCTwo-stage treatment protocol of keratocystic odontogenic tumour in young patients with Gorlin-Goltz syndrome: marsupialization and later enucleation with peripheral ostectomy. A 5-year-follow-up experienceInt J Pediatr Otorhinolaryngol201175121565–1571
58.
AntonoglouGNSándorGKKoidouVPPapageorgiouSNNon-syndromic and syndromic keratocystic odontogenic tumors: systematic review and meta-analysis of recurrencesJ Craniomaxillofac Surg2014427e364–e371
59.
LiCChiSXieJHedgehog signaling in skin cancersCell Signal20112381235–1243
60.
MancusoMPazzagliaSTanoriM, et al. Basal cell carcinoma and its development: insights from radiation-induced tumors in Ptch1-deficient miceCancer Res2004643934–941
61.
OroAEHigginsKMHuZBonifasJMEpsteinEHJrScottMPBasal cell carcinomas in mice overexpressing sonic hedgehogScience19972765313817–821
62.
LevanatSGorlinRJFalletSJohnsonDRFantasiaJEBaleAEA two-hit model for developmental defects in Gorlin syndromeNat Genet199612185–87
63.
OliveiraDMSilveiraMMFAndradeESS, et al. Immunohistochemical Analysis of Human Homologue of Drosophila Patched (PTCH) in Dental Follicles of Impacted Third MolarsInt J Morphol2012301105–109
AgaramNPCollinsBMBarnesL, et al. Molecular analysis to demonstrate that odontogenic keratocysts are neoplasticArch Pathol Lab Med20041283313–317
66.
TangJYMackay-WigganJMAszterbaumM, et al. Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndromeN Engl J Med2012366232180–2188
67.
GirardCDebuABessisDBlati`reVDereureOGuillotBTreatment of Gorlin syndrome (nevoid basal cell carcinoma syndrome) with methylaminolevulinate photodynamic therapy in seven patients, including two children: interest of tumescent anesthesia for pain control in childrenJ Eur Acad Dermatol Venereol2013272e171–e175
68.
KurekAGrudniakAMKraczkiewicz-DowjatAWolskaKINew antibacterial therapeutics and strategiesPol J Microbiol20116013–12
69.
LevyJGPhotosensitizers in photodynamic therapySemin Oncol199421(6, Suppl 15) 4–10
70.
AgostinisPBergKCengelKA, et al. Photodynamic therapy of cancer: an updateCA Cancer J Clin2011614250–281
71.
LoncasterJSwindellRSlevinFSheridanLAllanDAllanEEfficacy of photodynamic therapy as a treatment for Gorlin syndrome-related basal cell carcinomasClin Oncol (R Coll Radiol)2009216502–508
72.
ItkinAGilchrestBADelta-Aminolevulinic acid and blue light photodynamic therapy for treatment of multiple basal cell carcinomas in two patients with nevoid basal cell carcinoma syndromeDermatol Surg20043071054–1061
73.
ChechiaAAttiaLTemimeRBMakhloufTKoubaaAIncidence, clinical analysis, and management of ovarian fibromas and fibrothecomasAm J Obstet Gynecol20081995473.e1–473.e4
EvansDGLadusansEJRimmerSBurnellLDThakkerNFarndonPAComplications of the naevoid basal cell carcinoma syndrome: results of a population based studyJ Med Genet1993306460–464
76.
MorseCBMcLarenJFRoyDSiegelmanESLivolsiVAGraciaCROvarian preservation in a young patient with Gorlin syndrome and multiple bilateral ovarian massesFertil Steril2011961e47–e50
77.
BallAWenningJVan EykNOvarian fibromas in pediatric patients with basal cell nevus (Gorlin) syndromeJ Pediatr Adolesc Gynecol2011241e5–e7
78.
Pereyra-RodríguezJJBernabeu-WittelJConejo-MirJMultiple palmar pits and basal cell carcinomasCMAJ201018211E533
79.
ProviasJPBeckerLECellular and molecular pathology of medulloblastomaJ Neurooncol199629135–43
80.
AmlashiSFRiffaudLBrassierGMorandiXNevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literatureCancer2003983618–624
81.
CampbellRMMaderRDDufresneRGJrMeningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndromeJ Am Acad Dermatol200553(5, Suppl 1): S256–S259
82.
WallinJLTannaNMisraSPuriPKSadeghiNSinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndromeAm J Otolaryngol2007285360–362
83.
HonavarSGShieldsJAShieldsCLEagleRCJrDemirciHMahmoodEZBasal cell carcinoma of the eyelid associated with Gorlin-Goltz syndromeOphthalmology200110861115–1123
84.
HarrisSALargeDMGorlin's syndrome with a cardiac lesion and jaw cysts with some unusual histological features. A case report and review of the literatureInt J Oral Surg198413159–64
85.
KlugerNMarco-BaertichIGuillotBLate onset of cardiac tumour in naevoid Basal cell carcinoma (Gorlin) syndromeActa Derm Venereol2007873272–273
86.
YanATCoffeyDMLiY, et al. Images in cardiovascular medicine. Myocardial fibroma in Gorlin syndrome by cardiac magnetic resonance imagingCirculation200611410e376–e379
87.
BossertTWaltherTVondrysDGummertJFKostelkaMMohrFWCardiac fibroma as an inherited manifestation of nevoid basal-cell carcinoma syndromeTex Heart Inst J200633188–90
88.
CoffinCMCongenital cardiac fibroma associated with Gorlin syndromePediatr Pathol1992122255–262
