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Gorlin syndrome: what it is and what it means for a family | CION Cancer Clinics
Gorlin syndrome is an inherited condition that causes many basal cell skin cancers over a lifetime, cysts in the jaw and a few other signs. It is usually caused by a fault in the PTCH1 gene. This page explains the main features, how it is diagnosed, why radiation needs extra care, and why Indian families are often diagnosed through the jaw first. At CION Cancer Clinics, our oncologists plan screening and care for families with an inherited cancer syndrome, explained in plain words.
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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
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On this page
- What is Gorlin syndrome, in plain words?
- Which parts of the body does Gorlin syndrome affect?
- How is Gorlin syndrome diagnosed?
- What do the words on a Gorlin report mean?
- How does care change once Gorlin syndrome is confirmed?
- What this page cannot tell you
- Four things families tell us, and what is actually true
- Common questions about Gorlin syndrome
The short answer
What is Gorlin syndrome, in plain words?
Gorlin syndrome is an inherited condition that causes many basal cell skin cancers over a lifetime, along with cysts in the jaw and a range of other signs. It is usually caused by a fault in a gene called PTCH1. Its formal name is naevoid basal cell carcinoma syndrome.
What the gene normally does
PTCH1 acts as a brake on a growth signal that cells use while the body is forming. When one copy is faulty from birth, that brake is weaker in every cell. Skin cells, jaw tissue and a few other tissues are more likely to grow when they should not.
Why it is often found late
The signs are spread across different parts of the body. A dentist may see a jaw cyst, a skin doctor may remove a skin cancer, and a paediatrician may note a large head, without anyone joining them up. In people with darker skin, which includes most Indian families, skin cancers tend to be fewer, so the jaw cysts are often the first clue.
How serious is it?
Basal cell skin cancers grow slowly and rarely spread, but they can damage the skin around them if left. The bigger lifelong task is catching and treating them early and protecting the skin.
Gorlin syndrome is managed over a lifetime. With regular checks, most problems are found while they are small.The main signs
Which parts of the body does Gorlin syndrome affect?
Nobody has every sign, and the mix varies even within one family. These are the features doctors look for.
The skin
Basal cell skin cancers, often many, usually from the teens or twenties onwards. In darker skin they may be brown or black and are easily mistaken for moles.
Also seen
- Tiny pits on the palms and soles
- Skin cysts on the body
The jaw and teeth
Cysts in the jawbone, called keratocysts, often first appear in the teens. They can loosen or displace teeth and tend to come back after removal.
The brain in early childhood
A small number of young children develop a brain tumour called medulloblastoma. The chance is higher with some gene faults than others, so the plan for checks depends on the gene.
The skeleton and other organs
These are clues rather than dangers in themselves.
- A larger head and a prominent forehead
- Split or fused ribs on an X-ray
- Calcium lines inside the skull on a scan
- Fibrous lumps in the ovaries or heart, usually harmless
Not sure whether this applies to you?
Ask an oncologistReaching a diagnosis
How is Gorlin syndrome diagnosed?
A first clue
Usually a jaw cyst in a young person, skin cancers at an unusual age, or a relative already diagnosed.
A careful examination
The doctor checks the skin, palms, soles and head size, and asks about jaw surgery and skin lesions in the family.
A few targeted tests
An X-ray of the jaw or ribs may show typical signs. Doctors keep radiation to the minimum needed, for reasons explained below.
The gene test
A blood test looks for a fault in PTCH1 or a related gene. Once found, relatives can be tested for that exact fault.
On your report
What do the words on a Gorlin report mean?
- NBCCS
- Naevoid basal cell carcinoma syndrome, the formal name for Gorlin syndrome.
- Basal cell carcinoma
- The most common type of skin cancer. It grows slowly and very rarely spreads, but it can damage nearby skin if left.
- PTCH1 and SUFU
- The main genes behind Gorlin syndrome. A SUFU fault carries a higher chance of medulloblastoma in early childhood.
- Keratocyst
- A fluid-filled cyst inside the jawbone. It is not a cancer, but it can grow and damage teeth and bone.
- Palmar pits
- Tiny shallow dents on the palms or soles. They are harmless and a helpful clue for the doctor.
- De novo
- A new fault that started with this person rather than coming from a parent. Their own children can still inherit it.
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Side by side
How does care change once Gorlin syndrome is confirmed?
With Gorlin syndrome
Without it
Regular skin checks from childhood or the teens
Skin checked only if something changes
Jaw X-rays repeated to catch new cysts early
Dental X-rays only as needed
Radiotherapy avoided wherever possible
Radiotherapy used whenever it is the best option
Relatives offered a gene test
No family testing needed
Being straight with you
What this page cannot tell you
It cannot tell you whether you or your child has Gorlin syndrome. That needs an examination, sometimes a few X-rays, and usually a gene test. What your specific variant means is a question for the counsellor who ordered the test.
Why radiation needs care
People with Gorlin syndrome are unusually sensitive to radiation. Skin in an area treated with radiotherapy can go on to grow many new basal cell cancers. This is why teams avoid radiotherapy where they can, and prefer MRI to CT scans when either would do. Make sure every doctor you see knows about the diagnosis.
Who this does not apply to
Most people who have a single basal cell skin cancer in later life do not have Gorlin syndrome. Most jaw cysts found at the dentist are also the common, non-inherited kind. This page is for people with several signs together, a young diagnosis, or a relative already confirmed. Studies of Gorlin syndrome in Indian families are small, so some advice is drawn from other populations.
Counselling in Telugu can be arranged, so the whole family can follow what the diagnosis means.Commonly believed
Four things families tell us, and what is actually true
"Indian skin does not get skin cancer, so this cannot be Gorlin."
Darker skin lowers the number of skin cancers but does not stop them. Many Indian families are diagnosed through jaw cysts instead. Brown or black spots that grow or bleed still need a doctor.
"A jaw cyst is just a dental problem."
Usually it is. A keratocyst in a child or teenager, or more than one cyst, is different. It should prompt the question of Gorlin syndrome.
"Nobody else in the family has it, so it cannot be inherited."
A sizeable share of people with Gorlin syndrome are the first in their family, because the fault started with them. Their children can still inherit it.
"Every skin cancer will need a big operation."
Many small basal cell cancers are treated with minor procedures or creams. Tablets are used when there are too many to treat one by one. The aim is to protect the skin over a lifetime.
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 and jaw cysts. Many of its signs are harmless. With regular checks, most problems are found and treated while they are small.
Will my children inherit it?
Each child of a parent with Gorlin syndrome has a one in two chance of inheriting the fault, sons and daughters equally. A blood test can tell which children carry it. Those who do not cannot pass it on.
Can I have X-rays and CT scans?
When they are genuinely needed, yes. The aim is to keep radiation as low as reasonably possible. MRI or ultrasound is often preferred when it can answer the same question. Tell every doctor and dentist about your diagnosis.
Can I have radiotherapy if I need cancer treatment?
It is avoided where there is a good alternative, because treated skin can grow many new skin cancers later. Sometimes it is still the right choice. That decision needs a specialist who knows about Gorlin syndrome.
Does my young child need brain scans?
It depends on the gene. Children with a SUFU fault have a higher chance of medulloblastoma, and some teams offer MRI in early childhood. With a PTCH1 fault the chance is lower. Your team will explain what fits your child.
Is there a medicine for Gorlin syndrome?
The gene fault itself cannot be corrected. Tablets that block the overactive growth signal can shrink basal cell cancers in some people. They carry real side effects and are not suitable in pregnancy.
Is Gorlin syndrome common in India?
It is rare everywhere. Indian figures are limited, and many reports come from dental and oral surgery clinics, which fits the pattern of jaw cysts being found first. Some families likely go undiagnosed.
Where do I start if I think my family has it?
Gather any jaw surgery reports, skin biopsy results and X-rays, and note which relatives had similar problems. Take them to a genetic counsellor or skin specialist. Call the CION helpline if you are not sure who to see.
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)
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Sources
- GeneReviews (NCBI) — Nevoid Basal Cell Carcinoma Syndrome
- MedlinePlus Genetics — Gorlin syndrome
- MedlinePlus Genetics — PTCH1 gene
- National Cancer Institute — Genetics of Skin Cancer (PDQ) - Health Professional Version
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
Jaw cysts and dental findingsOften the first sign in Indian familiesSkin surveillance and managing many basal cell cancersHow skin checks and treatment work over a lifetimeMedulloblastoma risk in young childrenWhat parents of a young child need to knowSun protection as lifelong treatmentThe simplest daily step that makes a difference
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Could the jaw cysts and skin spots in your family be linked?
Tell us who has had jaw cysts, skin cancers or related signs, and at what age. We will help you reach a genetic counsellor who can look at the whole picture. One helpline serves every CION centre.