Living with Gorlin syndrome
An inherited condition that causes noncancerous and cancerous tumors, including skin cancers and jaw cysts.
Understanding Gorlin syndrome
Symptoms include basal cell skin cancers, jaw cysts, skin pits on the hands and feet, and abnormal calcium deposits in the brain. Other signs can include bone differences in the spine, ribs, or skull, and a large head. Some signs are present at birth. There is an increased risk of a type of brain tumor (medulloblastoma) in childhood. Jaw cysts and basal cell cancers typically appear by adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Basal cell skin cancers
- Jaw cysts
- Skin pits on the hands and feet
- Calcium deposits in the brain
- Rib differences, such as split ribs
- Large head size (macrocephaly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
The Skin Cancer Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: The Skin Cancer Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Gorlin Syndrome Alliance and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It occurs when the PTCH1, PTCH2, or SUFU gene is not working correctly. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: basal cell carcinoma syndrome; basal cell nevus syndrome; bcns - basal cell nevus syndrome; gorlin-goltz syndrome; gorlin's syndrome; multiple basal cell carcinomas
Patient organizations
- Gorlin Syndrome AllianceGorlin syndrome · United States
- The Skin Cancer FoundationGorlin syndrome · United States
- American Cancer SocietyGorlin syndrome · United States
- Children's Brain Tumor FoundationGorlin syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Gorlin syndrome.
Explore research for Gorlin syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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