FaCD Online Syndrome Fact Sheet

Last updated: 01 Nov 2011

Name: Basal Cell Nevus syndrome

Synonym: Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS

Mode of Inheritance: AD

OMIM number: 109400  


PTCH, mapped to 9q22.3
PTCH2, mapped to 1p32

Tumor features

cardiac fibroma
infundibulocystic basal cell cancer
ovarian fibroma
skin cancer, basal cell

Tumor features (possible)

breast cancer
dermoid cyst, nasal
Hodgkin disease (Hodgkin's lymphoma)
leukemia, acute lymphoblastic (ALL)
leukemia, chronic lymphocytic (CLL)
lung/bronchial cancer
melanoma, cutaneous
multiple myeloma (Kahler's disease)
nasopharyngeal rhabdomyosarcoma
non-Hodgkin lymphoma
ovarian fibrosarcoma
ovarian sarcoma (incl. pPNET of ovary)
renal cell cancer
renal fibroma
rhabdomyoma, fetal
salivary gland tumor
salivary gland, adenoid cystic carcinoma
small intestinal cancer
teratoma, benign cystic (dermoid cyst) of the ovary
thyroid adenoma
urinary bladder cancer
Wilms' tumor (nephroblastoma)

Non-tumor features

café au lait spots
epidermoid cysts
falx cerebri, calcification of
frontoparietal bossing
ionizing radiation sensitivity, increased
jaw, odontogenic keratocysts of the
nasal bridge, broad
palate, high arched
palmar pits
pectus excavatum/carinatum
plantar pits
rib anomalies
sloping shoulders
vertebral anomalies


In this disorder, multiple nevoid basal cell cancers (NBCC) typically start to appear at the age of puberty, although they have been reported to occur as early as 3 years of age. The NBCC's may manifest anywhere on the skin, but mainly on the face, neck and upper trunk. A typical facies is often present (70%), featuring frontoparietal bossing, broad nasal bridge and prognathism. Skeletal anomalies are often detected (e.g. 80 % of patients are diagnosed with keratocysts of the jaw before the age of 30), as well as palmoplantar skin pits(87 % of patients[1]. Mental deficiency occurs in a few of the cases.[1-4].

A wide range of tumors has been reported in basal cell nevus syndrome in addition to the basal cell carcinomas: Ovarian fibromas occur in frequencies ranging from 14 to over 50 %. Medulloblastoma, ages at diagnosis ranging from 2 months to 7 years, of the desmoplastic subtype[25] and especially that with extensive nodularity[27], is considered to be part of the tumor spectrum[5] and has been included as minor criterion for the disorder (see below), however, it is still relatively rare: 4 out of 105 patients studied by Kimonis et al.[1]. Cardiac fibromas[6;7] have been included as minor criterion as well. Other reported tumors include: rhabdomyosarcoma[8;9], (malignant) meningioma[1;10], astrocytoma[4;11;12], cerebellar ependymoma[1], hamartous polyps of the stomach[13], fetal rhabdomyoma[14], nasal dermoid cyst[15], NHL[4,28], ovarian dermoid cyst[4], CLL[4], ALL[12], breast cancer[4], lung cancer[4], ovarian fibrosarcoma[2] and ovarian leiomyosarcoma[23], leiomyosarcoma of the extremities[24], seminoma[16], carcinoma of the vulva[19], adenoid cystic carcinoma of the salivary glands[22], small bowel cancer[29] and others[2]. Rhabdomyosarcoma and Wilms tumor was diagnsed in a girl with a deletion of 9q22-q32 which included the PTCH gene[20].

Patients with the syndrome have an increased risk to develop secondary tumors in the field of radiation treatment. A conservative estimate for the new mutation rate in basal cell nevus syndrome is 14 %[4]. Fukushima et al[21]reported the occurrence of a meningioma after radiation tratment for a medulloblastoma.

The gene for basal cell nevus syndrome has been identified as the human homologue of the Drosophila patched gene[17;18]. In some cases PTCH2 mutations underly the syndrome[26].

Diagnostic Criteria:
two major diagnostic criteria or one major and two minor diagnostic criteria should be present.

  • Major:
  • 1) Multiple basal cell carcinomas, or one under the age of 30 years, or > 10 basal cell nevi. In a sunny climate these numbers should be higher (not further specified)
  • 2) Histologically proven odontogenic keratocyst, or polyostotic bone cyst
  • 3) >3 palmar and/or plantar pits
  • 4) Calcification of the falx cerebri: lamellar or early (< 20 years)
  • 5) First-degree relative with nevoid basal cell carcinomas

  • Minor:
  • 1) Congenital skeletal anomaly: bifid, fused, splayed or missing rib or fused vertebrae
  • 2) Macrocephaly (occipitofrontal circumference > 97th centile) with bossing
  • 3) Cardiac or ovarian fibroma
  • 4) Medulloblastoma
  • 5) Lymphomesenteric cysts
  • 6) Congenital malformation: cleft lip and/or palate, polydactyly, eye anomaly (cataract, coloboma, microphthalmia)


BCCNS Life Support Network 18 1 08
Gorlin syndrome support group 18 1 08


[1] Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69[3], 299-308. 1997.
[2] Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine 1987; 66(2):98-113.
[3] Woolgar JA, Rippin JW, Taylor M, Browne RM. The basal cell naevus syndrome. Br J Hosp Med 1987; October:344-350.
[4] Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 1994; 50:282-290.
[5] Evans DGR, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM. The incidence of Gorlin syndrome in 173 consecutive cases of meddulloblastoma. Br J Cancer 1991; 64:959-961.
[6] Evans DGR, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 1993; 30:460-464.
[7] Cotton JL, Kavey RE, Palmier CE, Tunnessen WW, Jr. Cardiac tumors and the nevoid basal cell carcinoma syndrome. Pediatrics 1991; 87(5):725-728.
[8] Beddis IR, Mott MG, Bullimore J. CAse report: Nasopharyngeal rhabdomyosarcoma and Gorlin's naevoid basal cell carcinoma syndrome. Med Pediatr Oncol 1983; 11:178-179.
[9] Schweisguth O, Gerard-Marchant R, Lemerle J. Naevomatose baso-cellulaire association a un rhabdomyosarcome congenital. Arch Fr Ped 1968; 25:1083-1093.
[10] Albrecht S, Goodman JC, Rajagopolan S, Levy M, Cech DA, Cooley LD. Malignant meningioma in Gorlin's syndrome: Cytogenetic and p53 gene analysis - Case report. J Neurosurg 1994; 81:466-471.
[11] Evans DGR, Birch JM, Orton CI. Brain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome. Br J Neurosurg 1991; 5(6):643-646.
[12] Dinehart SM, Anthony JL, Pollack SV. Basal cell carcinoma in young patients after irradiation for childhood malignancy. Med Pediatr Oncol 1991; 19:508-510.
[13] Schwartz RA. Basal-cell-nevus syndrome and gastrointestinal polyposis. N Engl J Med 1978; 299(1):49.
[14] Hardisson D, JImenez-Heffernan JA, Nistal M, Picazo ML, Tovar JA, Contreras F. Neural variant of fetal rhabdomyoma and naevoid basal cell carcinoma syndrome. Histopathology 29[3], 247-252. 1996.
[15] Pivnick EK, Walter AW, Lawrence MD, Smith ME. Gorlin syndrome associated with midline nasal dermoid cyst. J Med Genet 33[8], 704-706. 1996.
[16] Zaun H. Basalzellnavussyndrom mit ungewönlicher begleitsymptomatik. Hautarzt 1981; 32:455-458.
[17] Johnson RL, Rothman AL, Xie JW, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272[5268], 1668-1671. 1996.
[18] Hahn H, Wicking C, Zaphiropoulos PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevixtrench G, Wainwright B, Bale AE. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85[6], 841-851. 1996.
[19] Giuliani M, Di Stefano L, Zoccali G, Angelone E, Leocata P, Mascaretti G. Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report. European journal of gynaecological oncology 2006; 27(5):519-22.
[20] Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nature clinical practice. Oncology 2006; 3(10):575-80.
[21] Fukushima Y, Oka H, Utsuki S, Iwamoto K, Fujii K. Nevoid Basal cell carcinoma syndrome with medulloblastoma and meningioma--case report. Neurologia medico-chirurgica 2004; 44(12):665-8.
[22] Yilmaz B, Goldberg LH, Schechter NR, Kemp BL, Ruiz H. Basal cell nevus syndrome concurrent with adenoid cystic carcinoma of salivary gland. Journal of the American Academy of Dermatology 2003; 48(5 Suppl):S64-6.
[23] Seracchioli R, Colombo FM, Bagnoli A, Trengia V, Venturoli S. Primary ovarian leiomyosarcoma as a new component in the nevoid basal cell carcinoma syndrome: a case report. American journal of obstetrics and gynecology 2003; 188(4):1093-5.
[24] Garcia-Prats MD, Lopez-Carreira M, Mayordomo JI, Ballestin C, Rivera F, Diaz-Puente MT, Muñoz M, Cortes-Funes H, Martinez-Tello F. Leiomyosarcoma of the soft tissues in a patient with nevoid basal-cell carcinoma syndrome. Tumori 1994; 80(5):401-4.
[25] Amlashi SF, Riffaud L, Brassier G, Morandi X. Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer 2003; 98(3):618-24.
[26] Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S. A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. Journal of medical genetics 2008; 45(5):303-8.
[27] Garrè ML, Cama A, Bagnasco F, Morana G, Giangaspero F, Brisigotti M, Gambini C, Forni M, Rossi A, Haupt R, Nozza P, Barra S, Piatelli G, Viglizzo G, Capra V, Bruno W, Pastorino L, Massimino M, Tumolo M, Fidani P, Dallorso S, Schumacher RF, Milanaccio C, Pietsch T. Medulloblastoma Variants: Age-Dependent Occurrence and Relation to Gorlin Syndrome--A New Clinical Perspective. Clin Cancer Res. 2009 Mar 10. [Epub ahead of print]
[28] Pereira CM, Lopes AP, Meneghini AJ, Silva AF, Botelho Tde L. Oral diffuse B-cell non-Hodgkin's lymphoma associated to Gorlin-Goltz syndrome: a case report with one year follow-up. Indian J Pathol Microbiol. 2011 Apr-Jun;54(2):388-90.
[29] Prodinger PM. Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature. BMC cancer 2010; 10:360.