Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > basal cell nevus syndrome

basal cell nevus syndrome

MIM.109400 9q22.3

Wednesday 26 May 2004

Gorlin-Goltz syndrome, NBCS, nevoid basal cell carcinoma syndrome, BCNS ; Gorlin disease

Definition: Autosomal dominant tumor predisposition syndrome. Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri.

Digital case (Digital slides)

- HPC:389 : Keratocyst of the maxillary in Gorlin syndrome

Images

- keratocyst

Synopsis

- multiple keratocysts

- craniofacial anomalies

- visceral malformations

  • congenital lung cyst
  • lymphomesenteric cysts +/- calcified
  • hamartomatous stomach polyps

- palmar pits/plantar pits

- skeletal anomalies

  • biparietal bossing
  • mandible prognathism
  • pectus excavatum
  • thumb abnormalities
  • occult spina bifida
  • bridging of sella turcica
  • rib anomalies
    • bifid ribs
    • synostotic ribs
    • hypoplastic ribs
  • thoracic deformations
    • pectus deformity (13%)
    • Sprengel deformity (11%)
    • pectus excavatum
  • spine anomalies
    • scoliosis
    • kyphoscoliosis
    • abnormal cervical vertebrae
  • brachydactyly
  • thumb anomalies
  • short 4th metacarpal
  • short thumb terminal phalanx

- cerebral anomalies

  • calcification of the falx cerebri

- pits of palms and soles
- mental retardation
- paternal age effect
- abnormal sensitivity to therapeutic radiation

- skeletal anomalies

  • vertebral anomalies
  • occult spina bifida
  • costal anomalies

- palmar pits
- plantar pits

- cerebrospinal anomaies

  • intracranial falx calcification

- tumoral predisposition

  • cutaneous basal cell nevi
  • cutaneous basal cell carcinomas
  • cardiac fibroma
  • medulloblastoma
  • cardiac tumors (2020522)
  • BCNS-associated ovarian fibroma (12239722)
  • ovarian fibromata
  • ovarian carcinoma
  • medulloblastoma

Cytogenetics

- interstitial deletion 9q22.32-q33.2 (14699618)
- familial translocation t(9;17)(q34.11;p11.2) (14699618)

Etiology

- mutations in the human homolog of the Drosophila ’patched’ gene (PTCH) (MIM.601309)

References

- Basal cell nevus syndrome: clinical and genetic diagnosis. García de Marcos JA, Dean-Ferrer A, Arroyo Rodríguez S, Calderón-Polanco J, Alamillos Granados FJ, Poblet E. Oral Maxillofac Surg. 2009 Dec;13(4):225-30. PMID: 19795138

- Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg. 2004 Mar;33(2):117-24. PMID: 15050066

- Complex karyotypic abnormality in ovarian fibroma associated with Gorlin syndrome. Smith LM, Hu P, Meyer LJ, Coffin CM. Am J Med Genet. 2002 Sep 15;112(1):61-4. PMID: 12239722

- 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. 1997 Mar 31;69(3):299-308. PMID: 9096761