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Gorlin syndrome
This condition primarily affects the skin, bones, and nervous system, leading to an elevated lifetime risk of basal cell carcinoma, medulloblastoma, and other benign and malignant growths. It is present from birth and affects both males and females.
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Overview
Gorlin syndrome, also known as Naevoid Basal Cell Carcinoma Syndrome (NBCCS), is a genetic disorder affecting multiple body systems. Individuals with Gorlin syndrome have a higher chance of developing several types of growths, most notably basal cell carcinomas (BCCs), which are a common type of skin cancer. The condition can also lead to other features, such as jaw cysts and skeletal abnormalities [PMID:33678077].
This syndrome is present from birth, although many of its features, like BCCs, tend to develop later in life. The severity of Gorlin syndrome can vary significantly among individuals, even within the same family. It is estimated to affect between 1 in 30,000 and 1 in 60,000 people, making it a relatively rare condition.
Symptoms & clinical features
The clinical features of Gorlin syndrome are diverse and can involve various organ systems. Skin manifestations are common and include multiple basal cell carcinomas, often appearing from adolescence or young adulthood. These can develop on sun-exposed and sun-protected areas of the body. Other skin findings may include small pits on the palms and soles of the hands and feet [PMID:33678077].
Skeletal abnormalities are frequently observed, such as rib anomalies (e.g., bifid ribs), vertebral defects, and a prominent forehead. Dental cysts, specifically odontogenic keratocysts, are a characteristic feature and can develop in the jaw, often requiring surgical removal. Neurological involvement may include a higher risk of medulloblastoma, a type of brain tumour, particularly in childhood [PMID:33678077]. Other possible features include developmental anomalies of the brain, eye abnormalities, and benign ovarian or heart tumours.
Video: Is cancer in your genes?
Affected organs
Gorlin syndrome can affect many parts of the body. The skin is prominently involved, with a predisposition to developing numerous basal cell carcinomas. The skeletal system is often impacted, leading to various bone abnormalities in the ribs, spine, and skull. The jaw bones are frequently affected by the development of odontogenic keratocysts.
The brain and central nervous system can also be involved, with an increased risk of medulloblastoma, especially in children. Other organs like the eyes, heart, and ovaries may also be affected by specific benign or, less commonly, malignant tumours.
Risks & severity
Individuals with Gorlin syndrome have a significantly increased lifetime risk of developing basal cell carcinomas (BCCs), with some studies suggesting an almost 100% lifetime risk. These BCCs can appear from early adolescence and continue throughout life, often requiring multiple treatments. There is also an increased risk of medulloblastoma, a brain tumour, particularly in early childhood, typically before the age of five [PMID:34215905].
The severity of Gorlin syndrome varies widely. Some individuals may have only a few mild features, while others experience a more extensive range of health problems, including multiple tumours and significant skeletal anomalies. Regular monitoring and early detection are crucial for managing potential complications associated with the syndrome.
Genetic causes
Gorlin syndrome is primarily caused by pathogenic variants in PTCH1. This gene encodes a protein called Patched-1, which serves as a receptor controlling cellular signalling through the Hedgehog pathway. During embryonic development and throughout life, this pathway regulates when cells grow, divide, and specialise.
When functioning properly, Patched-1 keeps cellular proliferation in check. Pathogenic changes in PTCH1 prevent this regulatory brake from working effectively, allowing cells to multiply without appropriate control. This dysregulation contributes to the formation of tumours and developmental abnormalities characteristic of the syndrome [PMID:24075138]. While PTCH1 variants account for most cases, variants in other genes like SUFU and PTCH2 have also been associated with Gorlin syndrome-like features in some individuals.
- PTCH1 patched 1
Inheritance pattern
Gorlin syndrome is inherited in an autosomal dominant pattern. This means that only one copy of the altered gene in each cell is sufficient to cause the condition. A person with Gorlin syndrome has a 50% chance of passing on the genetic variant to each of their children, regardless of the child's sex.
In some cases, the condition results from a new (de novo) genetic variant, meaning it occurs in an individual with no family history of the disorder. In such instances, the variant was not inherited from either parent but arose spontaneously. However, once a new variant has occurred, the affected individual can then pass it on to their children in an autosomal dominant manner.
Each child has a 50% chance of inheriting the pathogenic variant, regardless of sex.
Diagnosis & testing
A diagnosis of Gorlin syndrome is typically made based on specific clinical criteria, which include a combination of major and minor features of the syndrome. Confirmation of the diagnosis often involves genetic testing to identify a pathogenic variant in PTCH1 or, less commonly, other associated genes.
Referral to a clinical genetics service is usually made by a healthcare professional, such as a dermatologist, maxillofacial surgeon, or paediatrician, who suspects the condition based on the patient's symptoms. Genetic testing for Gorlin syndrome is available through the NHS Genomic Medicine Service (GMS) as part of the National Genomic Test Directory, under specific R-codes for inherited cancer predisposition syndromes.
Management & lifestyle
Management of Gorlin syndrome focuses on regular surveillance, early detection, and treatment of complications, particularly tumours. This often involves a multidisciplinary team approach. Regular skin examinations by a dermatologist are essential to monitor for and treat basal cell carcinomas, which may involve surgical removal, topical therapies, or other treatments. Minimising sun exposure is also advised.
Paediatric surveillance for medulloblastoma may include regular brain imaging. Dental follow-up is important for early detection and treatment of odontogenic keratocysts. Individuals with Gorlin syndrome typically remain under the care of specialist teams within the NHS, often including a clinical genetics service, to coordinate ongoing monitoring and care. Genetic counselling is also available to discuss the implications of the condition for the individual and their family members.
UK care pathway
In the UK, individuals suspected of having Gorlin syndrome are typically referred to a clinical genetics service. This service can provide a formal diagnosis, genetic counselling, and guidance on surveillance and management. Genetic testing for Gorlin syndrome is commissioned by the NHS Genomic Medicine Service (GMS) and is accessible via the National Genomic Test Directory. This ensures that eligible patients can access appropriate genomic testing, often requested by a clinical geneticist. Genetic counsellors play a vital role in explaining the inheritance patterns and implications for family planning.
Frequently asked questions
What is the likelihood of my children inheriting Gorlin syndrome?
Gorlin syndrome is inherited in an autosomal dominant manner. If you have the condition, each of your children has a 50% chance of inheriting the genetic variant and therefore the syndrome.
Are all basal cell carcinomas associated with Gorlin syndrome cancerous?
Yes, basal cell carcinomas (BCCs) are a type of skin cancer. While they typically grow slowly and rarely spread to other parts of the body, they can be locally destructive if not treated. Individuals with Gorlin syndrome often develop multiple BCCs.
Can Gorlin syndrome be cured?
There is currently no cure for Gorlin syndrome, as it is a lifelong genetic condition. However, symptoms and complications, such as tumours, can be effectively managed through regular monitoring, early detection, and appropriate treatments to improve quality of life.
What kind of doctors will I need to see for Gorlin syndrome?
You will likely be seen by a multidisciplinary team. This may include a clinical geneticist, dermatologist, maxillofacial surgeon for jaw cysts, and potentially an oncologist or neurosurgeon if specific tumours develop. Regular follow-ups will be coordinated by these specialists within the NHS.
Is there anything I can do to prevent the development of tumours?
While you cannot prevent the genetic predisposition, reducing sun exposure by using sunscreen and protective clothing can help lower the risk of developing new basal cell carcinomas. Regular surveillance and early detection, as advised by your medical team, are the most effective ways to manage the condition.
References
- Palacios-Álvarez I, González-Sarmiento R, Fernández-López E. Gorlin Syndrome. Actas dermo-sifiliograficas. 2018. PMID: 29373110
- Spiker AM, Troxell T, Ramsey ML. Gorlin Syndrome. 2023. PMID: 28613671
- Cahn BA, Zhang R, Sidwell AM. Clinical practice guidelines for the management of basal cell carcinoma in Gorlin syndrome. Journal of the American Academy of Dermatology. 2026. PMID: 41396574
- Goto H, Tateishi C, Tsuruta D. Gorlin Syndrome and Cowden Syndrome. The Keio journal of medicine. 2025. PMID: 37558433
- Syed HA, Sathe NC. Apocrine Hidrocystoma. 2026. PMID: 28846245
- Evrin C, Alvarez V, Ainsworth J. DONSON is required for CMG helicase assembly in the mammalian cell cycle. EMBO reports. 2023. PMID: 37781960
- Vellone VG, Paudice M, Varesco L. Hereditary non-BRCA gynecological tumors. Minerva ginecologica. 2016. PMID: 26930387
- Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome. European journal of human genetics : EJHG. 2023. PMID: 37059840