Gorlin syndrome
Gorlin syndrome
Also known as:Nevoid basal cell carcinoma syndrome, NBCCS, basal cell nevus syndrome, China Second Rare Disease Catalog item 39
Gorlin syndrome is an inherited tumor predisposition syndrome that can cause early or repeated basal cell carcinomas, jaw keratocysts, small pits on the palms or soles, and skeletal features, requiring long-term dermatology, oral/maxillofacial, and genetics follow-up.
Start Here
A quick guide to the next step: which department to start with, what to prepare, and what to ask.
Multiple basal cell carcinomas at a young age, repeated jaw cysts, palm or sole pits, or family members with similar features should prompt dermatology, oral/maxillofacial surgery, medical genetics, or cancer genetics review.
Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is often related to PTCH1 or SUFU. It is not just a skin condition; it can affect skin, jaw, bones, nervous system, and reproductive organs.
There is no one-time cure. Care focuses on sun protection, avoiding unnecessary radiation exposure, and early detection and treatment of basal cell carcinomas, jaw cysts, and other related tumor risks.
It is usually autosomal dominant but can arise as a new variant. Genetic counseling helps with family testing, child surveillance, and reproductive planning.
Features are often treated separately as skin growths, dental cysts, or minor skeletal findings. The pattern of young age, multiple lesions, recurrence, and family history is the clue.
This page helps patients and families organize care leads. It does not replace a clinician’s diagnosis or treatment plan. For testing, medication, referrals, emergency care, and support applications, follow qualified clinicians, medical institutions, support organizations, and official sources.
Diagnosis Path
Organized around the practical patient journey: identify clues, avoid common delays, then prepare for care.
When to Suspect It
- A child, teen, or young adult develops repeated or multiple basal cell carcinomas, or far more lesions than expected for age.
- Repeated jaw keratocysts, tooth eruption problems, or facial bone features occur with skin tumors or palm/sole pits.
- Family history includes multiple basal cell cancers, jaw cysts, childhood medulloblastoma, or a known PTCH1/SUFU variant.
- Imaging shows falx calcification, rib/spine abnormalities, or there are clues such as ovarian or cardiac fibromas.
Common Wrong Turns
- Removing each skin cancer separately without asking about age, number of lesions, jaw cysts, and family history.
- Treating repeated jaw cysts without referral to genetics or a skin tumor team.
- Missing the need to reduce unnecessary radiation exposure when possible.
- Not creating a family testing and surveillance plan for children, siblings, or offspring after diagnosis.
Departments to Start With
- Dermatology
- Oral and maxillofacial surgery
- Medical genetics
- Cancer genetics clinic
Before the Visit
- List all basal cell carcinomas, suspicious skin lesions, pathology reports, and treatment dates.
- Bring dental panoramic imaging, jaw CT/MRI, jaw cyst pathology, and operative reports.
- Record palm/sole pits, head size, skeletal findings, childhood tumors, and family history.
- Bring prior genetic testing, or be ready to discuss PTCH1, SUFU, and related testing.
Tests to Ask About
- Full skin examination plus dermoscopy or biopsy of suspicious lesions.
- Oral/maxillofacial imaging to detect or follow jaw keratocysts.
- PTCH1, SUFU, and related gene testing with family confirmation when useful.
- Age- and gene-specific screening for medulloblastoma, ovarian fibroma, cardiac fibroma, or skeletal findings when appropriate.
Questions for the Doctor
- Do my findings suggest PTCH1-related or SUFU-related disease, and how does surveillance differ?
- How often should I have skin and jaw follow-up, and which tests should avoid unnecessary radiation?
- Do relatives or children need testing, and what follow-up is needed if they are positive but well?
- If basal cell cancers become numerous, what local or systemic treatment options are available besides repeated surgery?
Basic Information
Medical Notes
More complete medical explanations are kept here for discussion with clinicians.
Symptoms
Gorlin syndrome varies widely. Common clues include multiple or repeated basal cell carcinomas at a young age, jaw keratocysts, small pits on the palms or soles, larger head size, rib or spine differences, and characteristic facial or skeletal features.
Some patients have a risk of childhood medulloblastoma, especially depending on the gene involved. Ovarian fibromas can occur in females, and cardiac fibromas can occur in some children. Not every person has every feature.
Diagnosis
Diagnosis combines skin pathology, jaw findings, physical signs, imaging, family history, and genetic testing. PTCH1 is the most common gene, while SUFU and others can produce overlapping disease with different tumor-risk patterns.
Mimics include ordinary sporadic basal cell carcinoma, other jaw-cyst syndromes, Sotos syndrome, Bazex-Dupre-Christol syndrome, and related conditions. A genetic result helps guide family testing and individualized surveillance.
Treatment
Management is long term rather than one procedure. Skin care includes strict sun protection, regular full-body skin exams, early biopsy, and local treatment or surgery. When basal cell carcinomas are numerous or difficult to manage, specialists may discuss Hedgehog pathway inhibitors.
Jaw cysts need oral/maxillofacial follow-up and treatment that balances recurrence reduction with dental and jaw development. Unnecessary radiation exposure should be avoided when possible, especially in children and people with many skin tumors.
Long-term Care
Follow-up may include dermatology, oral/maxillofacial surgery, medical genetics, pediatrics, gynecology, or neuro-oncology depending on age, gene, tumor history, and family history.
Patients and families should learn to notice new skin lesions, maintain sun protection, keep pathology and imaging records, and tell new clinicians about the Gorlin syndrome diagnosis.
Fertility and Family
Gorlin syndrome is usually autosomal dominant, so an affected person often has a 50% chance of passing the variant to each child. Genetic counseling can discuss family testing, child surveillance, prenatal diagnosis, or preimplantation genetic testing.
When to Seek Urgent Care
A child with persistent headache, vomiting, unsteady walking, abnormal eye movements, or altered consciousness needs urgent evaluation for possible intracranial disease. Rapidly enlarging skin tumors, uncontrolled bleeding, infection, or painful facial/jaw swelling also needs prompt care.
Prognosis
Many risks can be managed with early detection and ongoing surveillance. Long-term dermatology and oral/maxillofacial care, family testing, and radiation-sparing choices are central.