Medical Oncologist
CION Cancer Clinics
Gorlin syndrome: signs, genes and what it means for a family | CION Cancer Clinics
Gorlin syndrome is an inherited condition caused by a fault in the PTCH1 or SUFU gene. It leads to many basal cell skin cancers, cysts in the jaw and a few other telltale signs. It is often missed for years because each problem is treated separately. This page explains the main signs, when they appear, and why knowing the name changes care for the whole family. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
NG
Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
17+specialists on panel
15,000+patients treated
35+centres across Telangana & AP
4.8★ / 800+Google rating
On this page
- What is Gorlin syndrome?
- What does Gorlin syndrome actually cause?
- When do the different signs usually appear?
- The words you will meet, in plain language
- Does it matter whether the fault is in PTCH1 or SUFU?
- Four things families tell us, and what is actually true
- What this page cannot tell you
- Common questions about Gorlin syndrome
The short answer
What is Gorlin syndrome?
Gorlin syndrome is an inherited condition that causes many skin cancers called basal cell carcinomas, cysts in the jaw and a handful of other signs. It is caused by a fault in the PTCH1 gene, or less often the SUFU gene. Doctors also call it nevoid basal cell carcinoma syndrome. It is rare, and it is often missed for years.
Why it is often missed
No single sign gives it away. A teenager has a jaw cyst removed by a dental surgeon. A young adult has a small skin cancer taken off. A child has an unusually large head. Each problem is treated alone, and nobody joins them up. In people with darker skin, including most Indians, skin cancers tend to appear later and in smaller numbers, which hides the pattern further.
Why the name matters
Once Gorlin is recognised, care changes. Radiation is avoided wherever possible, children may be watched for a rare brain tumour, and relatives can be tested. Most of the harm comes from not knowing.
Gorlin syndrome is lifelong, but most of its cancers are slow-growing and very treatable when found early.The main signs
What does Gorlin syndrome actually cause?
Nobody has every feature. Two people in the same family can look very different.
Skin cancers
Basal cell carcinomas are slow-growing skin cancers that rarely spread to other organs. In Gorlin they can appear young and in large numbers, often on the face, back and chest.
What they look like
- A small pearly or skin-coloured bump
- A sore that bleeds and does not heal
- A dark spot that slowly grows
Jaw cysts
Fluid-filled cysts in the jawbone, called keratocysts, are often the first sign, usually in the teenage years. They can cause swelling, loose teeth or pain, and tend to come back after removal.
A childhood brain tumour
A small number of children develop medulloblastoma, a brain tumour, in early childhood. The risk is higher with a SUFU fault than with PTCH1, which is why the gene matters.
Other signs doctors look for
- Tiny pits on the palms or soles
- A large head or a broad forehead
- Unusual ribs or spine on an X-ray
- Calcium deposits in the brain lining
- Benign growths in the ovary or heart
Not sure whether this applies to you?
Ask an oncologistAcross a lifetime
When do the different signs usually appear?
-
At birth and in infancy
A large head, a broad forehead or a cleft lip may be noticed. Rarely, a benign growth in the heart muscle shows up on a heart scan.
-
Early childhood
This is when medulloblastoma, if it happens at all, usually appears. Children with a SUFU fault are the main group watched with brain MRI.
-
The teenage years
Jaw cysts are often found, sometimes on a routine dental check. Pits on the palms and soles may become easier to see.
-
Late teens and adult life
Basal cell carcinomas start to appear, sometimes a few, sometimes many. New ones can keep appearing for life, so skin checks never really stop.
-
Adult women
Benign growths called fibromas can form in the ovaries. They are not cancer, but they may need a scan or an operation.
On your report
The words you will meet, in plain language
- Basal cell carcinoma
- The commonest skin cancer. It grows slowly and very rarely spreads to other organs.
- Keratocyst
- A fluid-filled cyst in the jawbone, removed by a maxillofacial or dental surgeon.
- Medulloblastoma
- A brain tumour of early childhood. Only a small share of children with Gorlin develop it.
- PTCH1 and SUFU
- The two genes behind most Gorlin syndrome. Both act as brakes on cell growth.
- De novo
- A fault that appears for the first time in one person, with neither parent carrying it.
- Germline
- Present in every cell from birth, and so inheritable. A somatic change is found only inside a tumour.
Leave a number, we will call you
One field. No form to fill in, and no charge for the call.
Side by side
Does it matter whether the fault is in PTCH1 or SUFU?
PTCH1
SUFU
The cause in most families
The cause in a smaller group
Jaw cysts are common
Jaw cysts are less common
Childhood brain tumour is uncommon
Childhood brain tumour is a bigger concern
Brain scans in childhood are debated
Regular brain MRI in early childhood is advised
Commonly believed
Four things families tell us, and what is actually true
"Skin cancer only happens to fair-skinned people."
Darker skin gives some protection, so Indians with Gorlin often have fewer skin cancers. It does not give full protection. Skin checks still matter, especially on sun-exposed areas.
"The jaw cyst was removed, so the problem is over."
In Gorlin, jaw cysts often come back, and new ones can form. A cyst that returns, or several cysts, is a reason to ask about Gorlin, not just another operation.
"Nobody else in our family has this, so it cannot be genetic."
In some people the fault appears for the first time, with neither parent carrying it. That person can still pass it on to their children.
"Having many skin cancers means it will spread everywhere."
Basal cell carcinomas very rarely spread to other organs. The work is in finding and treating each one early, before it grows deep into the skin.
Being straight with you
What this page cannot tell you
It cannot tell you whether you or your child has Gorlin syndrome. That is decided by a doctor who examines you, looks at X-rays and scans, and usually arranges a gene test. What your specific variant means is a question for the counsellor who ordered the test.
It cannot plan your checks
Skin, jaw, brain and ovary checks all depend on age, gene and what has already happened. A dermatologist, a maxillofacial surgeon and a genetics team usually share that plan. Studies of Gorlin in Indian patients are small, so much of the advice comes from overseas experience.
Who this does not apply to
Most people who have a single skin cancer later in life, or one jaw cyst, do not have Gorlin syndrome. Testing a basal cell carcinoma itself for gene changes is a different question from inherited testing, and is rarely needed. For tumour testing that guides treatment, see targeted therapy.
If you are unsure whether your history fits, call the helpline and describe it. Someone will tell you honestly whether a referral makes sense.Questions we are asked
Common questions about Gorlin syndrome
Is Gorlin syndrome a type of cancer?
No. It is an inherited condition that raises the chance of certain growths, mainly basal cell skin cancers. Many of its features, such as jaw cysts and palm pits, are not cancer at all. It is managed over a lifetime with regular checks.
How is Gorlin syndrome diagnosed?
Doctors look for a set of signs, such as several skin cancers at a young age, jaw cysts, palm pits and certain X-ray findings. A blood test for PTCH1 and SUFU usually confirms it. Some people meet the signs but have no fault found, and are still managed as Gorlin.
Can my children inherit it?
Yes. Each child of a parent with Gorlin has an even chance of inheriting the fault, like the toss of a coin. Boys and girls are equally likely to inherit it. A counsellor can explain testing in pregnancy or before, if you want to know.
Should my child be tested?
Often yes, because Gorlin needs care in childhood. A child who carries the fault may need brain scans, dental checks and careful choices about X-rays. A child who does not can skip all of that.
How are the skin cancers treated?
Most are removed with minor surgery, freezing, creams or light treatment. People with many skin cancers may be offered tablets that block the growth signal PTCH1 normally controls. Your dermatologist will choose the gentlest option that works for each spot.
Why do people with Gorlin avoid radiation?
Radiation can trigger new basal cell carcinomas in the area it passes through, sometimes many years later. That is why radiotherapy and CT scans are avoided where there is a good alternative, and MRI or ultrasound is preferred.
Does sun protection really help?
Yes. Sunlight adds damage to skin that is already prone to skin cancer. Shade, long sleeves, a hat and sunscreen on exposed skin are simple habits worth building from childhood, even in people with darker skin.
Where do I start if I think my family has Gorlin?
List who has had skin cancers, jaw cysts or a childhood brain tumour, and at roughly what age. Take that list to a dermatologist or genetic counsellor. Call the CION helpline if you are not sure who to see, and someone will point you to the right clinic.
Your Specialists
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
Medical Oncologist
Medical Oncologist
Want a specific doctor for your case? Mention them when booking.
Book Free ConsultationBook an appointment with our specialist
Share your name and number — we'll call you back within 30 minutes to schedule your consultation.
Sources
- GeneReviews (NCBI) — Nevoid Basal Cell Carcinoma Syndrome
- MedlinePlus Genetics — Gorlin syndrome
- National Cancer Institute — Genetics of Skin Cancer (PDQ) - Health Professional Version
- MedlinePlus Genetics — PTCH1 gene
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
Keep reading
Related pages
Why Gorlin patients must avoid radiation where possibleWhich scans and treatments to question, and what to use insteadPTCH1 and SUFU: which cancers and what riskThe cancer risks, gene by geneSurveillance for PTCH1 and SUFU carriersWhich checks happen, and from what ageTesting the family for PTCH1 and SUFUWho else should be tested, and when
Talk to us
Repeated jaw cysts or skin cancers in the family?
Tell us who has had skin cancers, jaw cysts or a childhood brain tumour, and at what age. We will tell you honestly whether a genetic referral makes sense, and arrange it if it does. One helpline serves every CION centre.