Gorlin syndrome
Última actualización 28 Mar 2023
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Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumours.
Descripción
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumours.
In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. The number of carcinomas may be reduced with ongoing treatment.
Most people with Gorlin syndrome also develop noncancerous (benign) tumours of the jaw, called keratocystic odontogenic tumours. These tumours usually first appear during adolescence, and new tumours form until about age 30. Keratocystic odontogenic tumours rarely develop later in adulthood. If untreated, these tumours may cause painful facial swelling and tooth displacement.
Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumours. A small proportion of affected individuals develop a brain tumour called medulloblastoma during childhood. A type of benign tumour called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) fibromas often do not cause any symptoms, but they may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a woman's ability to have children (fertility).
Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. These signs and symptoms are typically apparent from birth or become evident in early childhood.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Basal cell nevus syndrome
BCNS
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
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Lecturas adicionales y referencias
- Gorlin syndrome; MedlinePlus, National Library of Medicine.
- Bale AE, Yu KP. The hedgehog pathway and basal cell carcinomas. Hum Mol Genet. 2001 Apr;10(7):757-62. doi: 10.1093/hmg/10.7.757.
- Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010 Feb;152A(2):327-32. doi: 10.1002/ajmg.a.33139.
- Evans DG. Nevoid Basal Cell Carcinoma Syndrome. 2002 Jun 20 [updated 2024 Feb 22]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1151/
- Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. 2004 Nov-Dec;6(6):530-9. doi: 10.1097/01.gim.0000144188.15902.c4. No abstract available.
- Guenther LC, Barber K, Searles GE, Lynde CW, Janiszewski P, Ashkenas J; Canadian Non-melanoma Skin Cancer Guidelines Committee. Non-melanoma Skin Cancer in Canada Chapter 1: Introduction to the Guidelines. J Cutan Med Surg. 2015 May-Jun;19(3):205-15. doi: 10.1177/1203475415588652. Epub 2015 May 27.
- High A, Zedan W. Basal cell nevus syndrome. Curr Opin Oncol. 2005 Mar;17(2):160-6. doi: 10.1097/01.cco.0000154108.99236.ed.
- Lo Muzio L, Pastorino L, Levanat S, Musani V, Situm M, Scarra GB. Clinical utility gene card for: Gorlin syndrome. Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.9. Epub 2011 Feb 9. No abstract available.
- Madras J, Lapointe H. Keratocystic odontogenic tumour: reclassification of the odontogenic keratocyst from cyst to tumour. J Can Dent Assoc. 2008 Mar;74(2):165-165h.
- Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21.
- Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG. Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17.
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