Nevoid basal-cell carcinoma syndrome

Nevoid basal-cell carcinoma syndrome
Other namesBasal-cell nevus syndrome, Multiple basal-cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome
Adult patient with NBCCS
SpecialtyMedical genetics Edit this on Wikidata

Nevoid basal-cell carcinoma syndrome (NBCCS) is a rare inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones.[1] People with NBCCS are prone to developing various cancers, including a common and usually non-life-threatening form of non-melanoma skin cancer called basal-cell carcinomas (BCCs).[2] Only about 10% of people with the condition do not develop BCCs; the vast majority of patients develop numerous BCCs.[2]

The name Gorlin syndrome refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923–2006).[3] The American dermatologist Robert W. Goltz (1923–2014)[4] was his co-author, which is the basis for the term 'Gorlin-Goltz syndrome'.

First described in 1960 by Gorlin and Goltz,[5] NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000–164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q[6] or SUFU gene on chromosome arm 10q,[2] though some patients do not have either known mutation. PTCH is important in regulating cell division and growth, thus mutations in this gene can impact tumor growth.[2] Children who inherit the defective gene from either parent will also have the disorder.[7]

  1. ^ Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. (March 1997). "Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome". American Journal of Medical Genetics. 69 (3): 299–308. doi:10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M. PMID 9096761.
  2. ^ a b c d Spiker AM, Troxell T, Ramsey ML (2024). "Gorlin Syndrome". StatPearls. Treasure Island (FL): StatPearls Publishing. PMID 28613671. Retrieved 2024-04-11.
  3. ^ Burgdorf W (2008). "Robert J. Gorlin (1923 – 2006).". In Löser C, Plewig G (eds.). Pantheon der Dermatologie. Heidelberg: Springer. pp. 362–366.
  4. ^ Burgdorf WH, Padilla RS, Hordinsky M (October 2014). "In memoriam: Robert W. Goltz (1923-2014)". Journal of the American Academy of Dermatology. 71 (4): e163–5. doi:10.1016/j.jaad.2014.04.057. PMID 25349877.
  5. ^ Gorlin RJ, Goltz RW (May 1960). "Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome". The New England Journal of Medicine. 262 (18): 908–912. doi:10.1056/NEJM196005052621803. PMID 13851319.
  6. ^ Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, et al. (June 1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome". Science. 272 (5268): 1668–1671. Bibcode:1996Sci...272.1668J. doi:10.1126/science.272.5268.1668. PMID 8658145. S2CID 9160210.
  7. ^ Verkouteren BJ, Cosgun B, Reinders MG, Kessler PA, Vermeulen RJ, Klaassens M, et al. (February 2022). "A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome)". The British Journal of Dermatology. 186 (2): 215–226. doi:10.1111/bjd.20700. PMC 9298899. PMID 34375441.