A starting point for the whole document: definition, prevalence, the nature of the syndrome, and why surveillance is needed. Suitable for every audience as an initial read.
Gorlin syndrome, also known as NBCCS (Nevoid Basal Cell Carcinoma Syndrome) or basal cell nevus syndrome (BCC), is a hereditary genetic disorder that causes an increased tendency to develop various tumors — mainly basal cell carcinoma (BCC) skin cancers — alongside characteristic skeletal, odontogenic (mouth and jaw), neurological, and cardiological features.
ICD-10 code: Q87.89 · OMIM: 109400 (PTCH1) · 620343 (SUFU).
PTCH1 (chromosome 9q22); less common is SUFU (10q24).The document is built in five layers, according to who you are at that moment:
| Tab | Who it's for | What you'll find |
|---|---|---|
| Newly Diagnosed | You or a family member just diagnosed | A clear, jargon-free explanation, what to do in the coming weeks, frequently asked questions, who treats what |
| For Physicians | Ahead of a doctor's visit — print and bring | Diagnostic criteria, surveillance protocols, up-to-date treatments, a list of questions for the doctor |
| For Kids (11+) | Teens and younger family members | A friendly explanation, kids' frequently asked questions, what it means for me |
| Research & Trials | A patient who wants to stay up to date | Advances 2024–2026, active clinical trials, how to enroll |
| Sources & Links | Anyone who wants to go deeper or follow along | Recommended websites, associations, journals, how to search for research yourself |
This document is informational material, not medical advice. Every treatment decision must be made together with the treating physician. The information is current as of October 2026 and will become outdated — check the last-updated date in the footer.
The statistics and protocols are drawn from up-to-date professional sources (GeneReviews, NCCN, JCO, BJD, studies published 2023–2025). Where the evidence is partial or conflicting, this is stated explicitly.
This tab is for you if you (or your child/family member) were recently diagnosed. The pace here is calm — we go over what it means, what you need to do in the coming months, and what you don't need to do.
Gorlin syndrome is a chronic condition you live with — not an illness you treat and are done with.
Most people with the syndrome live full lives, with a life expectancy close to normal. Four principles will determine how smooth the road is:
The real danger isn't the tumor that appears — it's the tumor that grows quietly. Follow-up every 3–6 months with a dermatologist makes it possible to catch a BCC when it's 2 mm instead of 2 cm. The difference: a 10-minute procedure versus a 3-hour Mohs surgery with a visible scar.
UV radiation is the number-1 trigger for new BCC tumors. Every hour of exposure without protection is an accumulating debt you'll pay 10–15 years later. SPF 50, a wide-brimmed hat, long sleeves in summer — not a leisure activity but a daily discipline to adopt.
X-rays, CT and repeated scans are ionizing radiation. A Gorlin patient's body is more sensitive to it than average, and every cumulative exposure raises the risk of secondary tumors. The rule: before any test, ask "Can we do an MRI or ultrasound instead?".
A diagnosis of a genetic condition is shaking. People walking the same path — in Gorlin syndrome patient associations and in Facebook groups worldwide — ease the burden in a way no physician can. This support helps you stay sane even when everything is under medical control.
A Gorlin diagnosis opens six doors, each of which you need to walk through in the first three months. Not all in the same week — but all of them need to be scheduled. Most people at this point don't yet realize they're facing several medical stops, different specialties, and a few bureaucratic steps. This is the practical roadmap:
Why it matters: this is the fixed team that will accompany you for life. A dermatologist who knows what Gorlin looks like — and not just a sporadic BCC — will identify tumors early, decide correctly when to cut and when to watch, and know when to switch to systemic therapy.
How: a referral from your primary-care physician to a dermatology clinic at a major medical center. State "Gorlin syndrome" up front so they schedule you with a doctor who is familiar with it. Wait times vary by health system; flagging a "suspected skin tumour" often shortens them.
Why it matters: there are two possible genes — PTCH1 (~85% of cases) and SUFU (~5–10%). This isn't a technicality: with SUFU the risk of medulloblastoma (a childhood brain tumor) is 10–20 times higher, and accordingly the surveillance protocol in children is a brain MRI every 4 months until age 3. Without knowing which gene you have, surveillance can't be planned correctly.
How: a referral to a genetic counselor at a genetics institute (every academic hospital has one). The first session is ~45 minutes, covering inheritance and family. A blood sample is sent to the lab — results in 4–10 weeks. Important: the test may be covered by your health plan or insurer if diagnostic criteria are met — worth verifying beforehand.
Why it matters: 65–75% of Gorlin patients develop odontogenic keratocysts (OKCs) in the jaw. They aren't dangerous — but if they grow undetected, they can damage the jawbone and teeth. In children they are treated differently than in adults (marsupialization instead of surgery), so time of detection changes how they're managed.
How: a referral to an oral & maxillofacial surgeon at a hospital or dental school. The radiograph itself takes 5 minutes, with reading at the same visit. Recommended frequency going forward: every 12–18 months.
Why it matters: about 2–5% of patients have a cardiac fibroma — a benign tumor that is usually asymptomatic, but rarely causes arrhythmia or hemodynamic obstruction. A single baseline scan rules out the risk; if normal, gentle follow-up every 2–3 years.
How: a referral to a cardiologist through your health provider. A transthoracic echocardiogram — 30 minutes, no radiation, non-invasive. Results usually the same day.
Why it matters: medulloblastoma is the major risk in Gorlin-SUFU in childhood, and the median age of onset is 16.5 months. Early detection dramatically changes the prognosis — from catching it at an early stage, to prompt treatment and sparing radiation to the head (which in Gorlin patients is dangerous in its own right).
How: a referral to pediatric neuro-oncology at a specialist children's center. The MRI is done under brief sedation (because young children don't stay still for 30 minutes). Recommended frequency: every 4 months from birth to age 3, then every 6 months to age 5.
Why it matters: this isn't a nicety — it's infrastructure. Patient associations connect patients, know which doctors are familiar with the syndrome in practice (and not just on paper), and help you navigate your health provider and any disability or social-security services when the bureaucracy begins. It's also psychological: one conversation with someone who has walked the same path saves months of searching alone.
How: reach out to a Gorlin syndrome association — for example the Gorlin Syndrome Alliance (US), the Gorlin Syndrome Group (UK), or a national/local group where you live (see Sources & Links). Most reply within days, free of charge and with no obligation.
Save the link to this page (gorlin.help) or print the "Clinical Info for Physicians" tab. At the first visit with a new doctor there are at least 8 terms you hear for the first time — PTCH1, SUFU, OKC, panoramic, fibroma, BCC, Mohs, HHI. There's no way to remember it all during the conversation. It's better to have a document to return to afterward, and an hour to read quietly at home. You can also send the link to the doctor the day before the visit — some doctors appreciate that.
Yes. Gorlin syndrome is autosomal dominant — every child born to an affected person has a 50% chance of inheriting the mutation. If the parent is not affected, the chance is close to zero (unless there is a de novo case, a new mutation — which accounts for about 20–30% of cases).
Family-planning options include preimplantation genetic diagnosis (PGD/IVF), prenatal diagnosis (CVS or amniocentesis), or a regular pregnancy with genetic counseling.
High — but not as dangerous as it sounds. BCC tumors are local skin cancers that almost never metastasize. The real danger is the extent of the treatments and the local damage to the skin. With follow-up every 3–6 months with a dermatologist, tumors are caught small and easy to remove.
Average age at the first BCC: 20–30. By age 40 — about 80% of patients have at least one.
Not stop, but protect. Ultraviolet radiation is the main trigger. A practical strategy:
The beach, sports, life — none of it is canceled. Just with awareness.
Not "not allowed," but you should reduce it to the medical minimum. A Gorlin patient's body is sensitive to ionizing radiation and may develop BCC tumors where it was exposed. Rules of thumb:
Care is multidisciplinary and is usually best coordinated through major academic medical centers, which bring the relevant specialties together:
A Gorlin syndrome patient association can help you find doctors and centers familiar with the syndrome near you.
Yes — in an age-appropriate way. A child who knows what is happening to their body is less anxious, not more. See the "For Kids (11+)" tab in this document — it was written especially for them. For under age 11, adapt the explanation to their level (simple sentences: "I have something special in my body, so I go to the doctor more than others").
Principle: don't hide, don't frighten. Normalize the follow-up as part of life.
Completely normal. A diagnosis of a chronic genetic condition is a well-known emotional trigger. Studies show a high rate of anxiety and depression among Gorlin patients, especially around times of a new tumor being found or surgery. If the feeling interferes with daily functioning, see a psychologist or psychiatrist. CBT and acceptance-based therapies (ACT) have been shown to be effective. Support groups, too — through the Gorlin association or on Facebook (UK group: Gorlin Syndrome Group) — help a great deal.
No, and not in the near term. But the treatment of the manifestations has improved significantly: Hedgehog pathway inhibitors (Vismodegib, Sonidegib) can greatly reduce the number of new BCCs. Active trials (2025–2026) of topical Patidegib, Itraconazole and other new drugs are adding options. The research is moving — see the "Research & Trials" tab.
Gorlin syndrome requires a multidisciplinary team. These are the people you should be in touch with:
| Specialist | Why | Frequency |
|---|---|---|
| Dermatologist (skin doctor) | Full skin exams, BCC removal, managing systemic therapy | Every 3–6 months |
| Geneticist / genetic counselor | Confirming the mutation, counseling for relatives and regarding pregnancy | Initial visit + as needed |
| Oral & maxillofacial surgeon | Monitoring odontogenic keratocysts, surgery | Panoramic radiograph every 12–24 months |
| Cardiologist | Echocardiogram to detect cardiac fibroma | Baseline + every 2–3 years if normal |
| Gynecologist (for women) | Pelvic ultrasound for ovarian fibromas | Every 2–3 years |
| Neurologist / neuro-oncologist | Mainly if SUFU or suspected medulloblastoma | Depends on the mutation and age |
| Psychologist | Coping, anxiety, body image | As needed |
A diagnosis of a genetic condition may raise practical questions:
The material in this tab is condensed and up to date (2024–2026). Intended to be printed and handed to the doctor at the visit. It includes diagnostic criteria, surveillance protocols per NCCN/Consensus, up-to-date therapeutic options, and a list of recommended questions the patient can ask.
Gorlin syndrome (NBCCS) is an autosomal dominant disorder caused by a mutation in PTCH1 (85%) or SUFU (5–10%). Prevalence 1:31,000–1:164,000. Nearly complete penetrance — but the clinical expression varies dramatically, even within the same family. A patient may present with a key manifestation in your field before the genetic diagnosis is even known.
Gorlin patients develop dozens to hundreds of BCCs over a lifetime. First BCC at age 20–30 (rarely before 10). Skin surveillance every 3–6 months. Removal by surgery, Mohs, PDT, or topical therapy. Radiation to treat a BCC is contraindicated — it makes it worse.
What to know outside your field: patients also have OKCs in the jaw (annual panoramic), cardiac fibroma (baseline echo), and if SUFU — a childhood medulloblastoma risk.
65–75% of patients. Recurrence 30–40% with enucleation alone — consider peripheral ostectomy and/or Carnoy's solution. In children — primary marsupialization. Minimize imaging: panoramic every 12–18 months, no more.
What to know outside your field: these patients are sensitive to ionizing radiation; minimize jaw CT. They also need close skin surveillance (BCCs), and a cardiac evaluation.
Prevalence 2–5%. Sometimes detected prenatally. Most — asymptomatic. Surgery only for hemodynamic obstruction, arrhythmia, or rapid growth. Baseline echo, follow-up every 2–3 years.
What to know outside your field: the patient in front of you likely has skin BCCs and jaw OKCs. If you find a fibroma in an infant — refer to genetics to rule out/confirm Gorlin.
Risk 1.7% in PTCH1, 20–30% in SUFU. Subtype: SHH-activated, Desmoplastic/Nodular. Median age 16.5 months in SUFU. Protocol: brain MRI every 4 months until age 3, every 6 months until age 5 in SUFU. Avoid radiation where possible — chemo-only protocols under discussion.
What to know outside your field: the patient will need skin surveillance (BCCs) and jaw imaging (OKCs) for life.
PTCH1 vs SUFU stratification is critical: it determines the intensity of brain surveillance and the medulloblastoma risk. 20–30% de novo. 15–20% with no mutation in known genes — consider NGS/WES. Counseling for relatives and for family planning (PGD, CVS).
What to know outside your field: diverse clinical expression — refer to a dermatologist, oral & maxillofacial surgeon, cardiologist. The patient needs a multidisciplinary team.
15–25% of women with Gorlin, 75% bilateral. Most — asymptomatic, ultrasound every 2–3 years. Conservative approach: avoid oophorectomy unless necessary.
What to know outside your field: Gorlin patients of reproductive age need genetic counseling (PGD/IVF). There is also parallel skin and jaw surveillance.
Strabismus (63%), hypertelorism (45%), congenital cataract (18%), coloboma (9%). Early referral for infants/children.
What to know outside your field: eye anomalies are a minor diagnostic criterion. If the child in front of you also has frontal bossing and a large head — consider a genetics referral.
Ionizing radiation (CT, X-ray) increases secondary BCCs. Principle: MRI/US first, CT only if there is no medical alternative. Dental panoramic no more than every 12–18 months. Mammography — consider alternative breast MRI in high-risk cases. Document cumulative radiation exposure.
What to know outside your field: notify the ordering team. Ensure maximal lead shielding if CT is required.
A high rate of anxiety and depression, especially around repeated surgeries, the discovery of new tumors, and impaired body image. CBT and ACT are effective. Risk factors: isolation, lack of community, the first BCC discovery. Younger patients need normalization.
What to know outside your field: this is a chronic genetic condition with repeated surgeries. The burden accumulates. Referral to support groups (the Gorlin association) is part of the treatment.
Diagnosis: 2 major criteria or 1 major + 2 minor.
First BCC at age 20–30 (rare <10). By age 40 — 80% of patients. Average count 10–40+ over a lifetime, some with 100+. Sites: face (>90%), neck, trunk. Types: Nodular (80%), Superficial (15%), Infiltrative/Morpheaform, Basosquamous (5%, aggressive).
65–75% of patients. 50% of cases multiple/bilateral. Age at diagnosis: 10–30. Recurrence rate: enucleation alone 30–40%; +peripheral ostectomy 10–20%; marsupialization → enucleation 0–15%; +Carnoy's solution ~5%. Recommended: a combined approach in children.
60–75% with at least one anomaly: Bifid ribs (60%), vertebral anomalies (50%), Frontal bossing (50–70%), Macrocephaly (30–40%), cleft lip/palate (5%), polydactyly (5–10%).
≥85% by age 20–40. 2–3mm diameter, 1–3mm depth. Variable symmetry. ≥3 — a major criterion, specificity >95%.
Falx cerebri calcification in 90% by age 30, lamellar pattern on CT. Mild cognitive impairment in 5–10%. Medulloblastoma — see above.
Cardiac fibroma 2–5%. Sometimes detected prenatally. Most — asymptomatic. Indications for surgery: hemodynamic obstruction, arrhythmia, growth.
Congenital anomalies in 8–45%: strabismus 63%, congenital cataract 18%, coloboma 9%, hypertelorism 45%. Early referral.
Ovarian fibromas in 15–25% of women, 75% bilateral. Usually asymptomatic. Conservative — avoid oophorectomy if possible.
| System | Frequency | Imaging/exam |
|---|---|---|
| Skin | Pediatric annually, adolescents every 6–12 mo, adults every 3–6 mo | Full skin exam, dermoscopy, baseline photography |
| Teeth/mouth | Pediatric every 12–18 mo, adults every 2–3 years if normal | Panoramic, clinical exam |
| Brain (SUFU) | Every 4 mo age 0–3, every 6 mo age 3–5 | High-res brain MRI, without sedation if possible |
| Brain (PTCH1) | Clinical only; imaging as symptoms dictate | — |
| Heart | Baseline in infancy, then every 2–3 years if normal | Echo, cardiac MRI for characterization |
| Pelvis (women) | Every 2–3 years | Pelvic ultrasound |
| Eyes | Early pediatric if a congenital anomaly | Ophthalmologic exam |
An evolving practice 2023–2025: week-on/week-off or month-on/month-off cycles. Maintaining efficacy while reducing side effects. Best individualized.
To give the patient before the visit — or to print and bring:
This tab is written especially for you — teens aged 11 and up. No complicated words, no Latin, no talking to you like you're a patient. Just the truth, plain and simple.
This tab is written especially for you — teens aged 11 and up. No complicated words, no Latin, no talking to you like you're a patient. Just the truth, plain and simple.
Gorlin syndrome is something you were born with. It's not an illness you caught from someone, and not something you caused. It's written in your genes — in the code that made you — since before you were born.
People who have the syndrome live completely normal lives: school, friends, sports, vacations, work, family. But their body needs a little more attention in certain places — mainly the skin, the mouth, and the jaw.
Dr. Robert Gorlin was an American doctor who first described the syndrome in 1960. The name just stuck. Sometimes it's also called NBCCS — those are the initials of "Nevoid Basal Cell Carcinoma Syndrome." Complicated? Yes. Usually people just say "Gorlin."
It means three main things:
No. People with Gorlin live about as long as everyone else. The biggest risk — skin cancers called BCC — are local: they don't move from their spot in the body. You remove them, and that's it. With good follow-up at a skin doctor, they're treated when they're very small.
Sure. You just want to put on sunscreen beforehand, prefer playing when the sun is less harsh (not midday in summer), and use a hat if you can. Sport is amazing for your health — mentally and physically.
You don't owe anyone anything. It's your story, and you decide who to share it with. Some people tell one good friend so that someone knows. Others keep it to themselves. Both are fine. If a kid teases you about it — that's not OK, and there are people you can rely on: a parent, a counselor, a teacher.
Because what they're doing is surveillance, not treatment. When a doctor checks your skin or a dental X-ray, they want to make sure everything's OK. If something small starts — they catch it before it becomes a big problem. It's like a mechanic checking your car once a year — not because it's broken, but so it doesn't break down.
That's an important question, and you'll explore it when you decide you want to know. The chance is 50% for each child. But there are modern ways to choose — there are tests done even before pregnancy. When the time comes, you'll get counseling. Right now — there's no need to worry. You're 11–17, you have plenty of time.
It's not forbidden — it's just not ideal to do more than you need. X-rays are radiation, and for your skin that's not the best. So when possible, doctors will choose a different test (ultrasound, MRI). When it's really needed — they do it. It's not a drama, just caution.
Not because of anything you did, that Mom or Dad did, or that the family did. It's just genetics — like one person is born with blue eyes and another with brown. This gene is in the family, or it appeared in you for the first time. There's no reason to look for someone to "blame." It's just part of who you are.
Not necessarily. Most people with Gorlin don't take daily medicine. When you start getting a lot of BCC tumors on the skin, there are special drugs that help slow them down — but that's not always needed. Every patient is their own case.
Yes! Gorlin syndrome patient associations connect families and kids, and in the Facebook groups there are teens from around the world. Ask your parent to help you connect — it really helps to know there are other people who understand exactly what you're going through.
So far we've talked about surveillance, sun, and feelings. But you might already know that some of the follow-up also includes treatments — small procedures, tests, things that sound scary but really don't have to be. The sections here explain what really happens, without hiding anything — but also without scaring you.
Each section is closed, and you open only what interests you.
BCC tumors are the most common thing in Gorlin syndrome. They're tumors that are not dangerous in most cases — they don't spread to other organs in the body. But they need to be removed because they grow slowly in place.
A skin doctor (dermatologist) spots a tumor during a routine exam. Sometimes it's a tiny spot you didn't even feel. And then:
For tumors on the face or in sensitive places, there's a method called Mohs — the doctor removes one layer, checks it under a microscope, and only if needed — continues. That way as little healthy skin as possible is removed. It takes longer but it's worth it.
For superficial, small tumors, sometimes a special cream (Imiquimod) is applied or a light treatment (PDT) is done — with no cutting at all. The doctor decides what fits best.
It varies a lot. Some people with Gorlin remove one tumor every few years. Some need more. There's no way to know in advance — which is why follow-up with the skin doctor is important: when you catch it early, the procedure is small and simple.
In Gorlin, cysts sometimes form in the jaw — small fluid-filled sacs that grow slowly inside the jawbone. They're not cancerous and not dangerous, but they need to be treated so they don't press on teeth or bone.
Usually on a panoramic dental radiograph — a wide image where you can see the whole jaw. The cyst looks like a roundish dark patch. Sometimes it's found by chance, and sometimes you feel swelling or pressure.
During the procedure — no, because you're numb or asleep. After — there's swelling and discomfort for a few days, treated with regular painkillers. Most kids get back to normal within a week.
Sometimes a cyst grows next to a tooth or pushes teeth around. The doctor will try to save the teeth, but sometimes one tooth needs to come out. That's a situation the oral & maxillofacial surgeon plans for in advance.
Gorlin syndrome doesn't only affect skin and teeth. It also causes a few features in the body that you may have already noticed. They don't interfere with function in most cases — but it's good for you to know what they are.
Many people with Gorlin have a head that's a bit larger than average. It doesn't say anything about what's inside — it's just structure. If your head circumference was measured on the larger side — that's part of the syndrome and not a reason to worry.
In some kids with Gorlin, the forehead is a bit more prominent than usual. This too is a structural feature — cosmetic only, not medical.
On a chest X-ray you can sometimes see a "split" rib (bifid rib) — a rib whose end splits into two. It doesn't hurt, doesn't interfere with breathing, and you can't feel it at all. The doctor might note it, but there's nothing to do — and nothing that needs doing.
This is one of the most characteristic signs: tiny sunken dots on the palms or soles. They're 2–3 mm in size and don't hurt. Not everyone sees them — sometimes you need to look closely. They're harmless and don't need treatment.
Tip: if you wet your palms and look under a strong light, you can see them easily. Some people actually think it's kind of cool — a unique mark that only you have.
Because of the cysts in the jaw, sometimes permanent teeth are delayed in coming in, or they come in a different spot. The dentist keeps track of this and plans ahead.
In a small share of kids there's a slight difference between the eyes (hypertelorism) or a mild squint. If there is — an eye doctor keeps track and treats it. If there isn't — great.
Yes! The skeletal features of Gorlin don't limit physical activity. You can run, swim, play soccer, ride a bike — like everyone. Just remember sun protection during outdoor activity.
Most kids with Gorlin don't need daily medicine. But when you reach an older age and a lot of BCC tumors start appearing, there are drugs that can help.
They're called "Hedgehog Inhibitors." Hedgehog is the name of a pathway in cells — not the hedgehog from the game. The drugs block this pathway, and tumors shrink or stop growing.
There's a new drug in trials called Patidegib — an ointment applied directly to the skin. The advantage: fewer side effects because the drug doesn't go into the whole body. Still being tested, but it's a promising direction.
Usually not at your age. Most drug treatment starts at age 20–30+, when a lot of BCCs start appearing. At your age, the main treatment is surveillance + sun protection. But it's good to know what's ahead — so you're not surprised.
Not all kids with Gorlin need a brain MRI — but some do, especially if you have a mutation called SUFU (your parents can tell you). If you've already had an MRI — you know what it is.
A machine that photographs the inside of the body using a magnet — no radiation (and that's important for us!). You lie inside a tunnel that makes a loud noise, with headphones. It takes 20–40 minutes. It doesn't hurt at all.
In kids with a SUFU mutation, there's a small chance of a brain tumor called medulloblastoma. The MRI checks that everything's OK. In the vast majority of cases — everything is fine. And even if something is found, it's caught very early and it's much easier to treat.
Usually this follow-up is done until age 5, and after that the risk drops a lot. If you're over 5 and no longer getting an MRI — it's a sign that everything's fine.
Gorlin syndrome is something you were born with. It's not an illness you caught from someone, and not something you caused. It's written in your genes — in the code that made you — since before you were born.
People who have the syndrome live completely normal lives: school, friends, sports, vacations, work, family. But their body needs a little more attention in certain places — mainly the skin, the mouth, and the jaw.
Dr. Robert Gorlin was an American doctor who first described the syndrome in 1960. The name just stuck. Sometimes it's also called NBCCS — those are the initials of "Nevoid Basal Cell Carcinoma Syndrome." Complicated? Yes. Usually people just say "Gorlin."
It means three main things:
No. People with Gorlin live about as long as everyone else. The biggest risk — skin cancers called BCC — are local: they don't move from their spot in the body. You remove them, and that's it. With good follow-up at a skin doctor, they're treated when they're very small.
Sure. You just want to put on sunscreen beforehand, prefer activity when the sun is less harsh (not midday in summer), and use a hat if you can. Sport is amazing for your health — mentally and physically.
You don't owe anyone anything. It's your story, and you decide who to share it with. Some people tell one good friend so that someone knows. Others keep it to themselves. Both are fine. If someone teases you about it — that's not OK, and there are people you can rely on: a parent, a counselor, a teacher.
Because what they're doing is surveillance, not treatment. When a doctor checks your skin or a dental X-ray, they want to make sure everything's OK. If something small starts — they catch it before it becomes a big problem. It's like a mechanic checking your car once a year — not because it's broken, but so it doesn't break down.
That's an important question, and you'll explore it when you decide you want to know. The chance is 50% for each child. But there are modern ways to choose — there are tests done even before pregnancy. When the time comes, you'll get counseling. Right now — there's no need to worry. You're 11–17, you have plenty of time.
It's not forbidden — it's just not ideal to do more than you need. X-rays are radiation, and for your skin that's not the best. So when possible, doctors will choose a different test (ultrasound, MRI). When it's really needed — they do it. It's not a drama, just caution.
Not because of anything you did, that Mom or Dad did, or that the family did. It's just genetics — like one person is born with blue eyes and another with brown. This gene is in the family, or it appeared in you for the first time. There's no reason to look for someone to "blame." It's just part of who you are.
Not necessarily. Most people with Gorlin don't take daily medicine. When you start getting a lot of BCC tumors on the skin, there are special drugs that help slow them down — but that's not always needed. Every patient is their own case.
Yes! Gorlin syndrome patient associations connect families and kids, and in the Facebook groups there are teens from around the world. Ask your parent to help you connect — it really helps to know there are other people who understand exactly what you're going through.
So far we've talked about surveillance, sun, and feelings. But you might already know that some of the follow-up also includes treatments — small procedures, tests, things that sound scary but really don't have to be. The sections here explain what really happens, without hiding anything — but also without scaring you.
Each section is closed, and you open only what interests you.
BCC tumors are the most common thing in Gorlin syndrome. They're tumors that are not dangerous in most cases — they don't spread to other organs in the body. But they need to be removed because they grow slowly in place.
A skin doctor (dermatologist) spots a tumor during a routine exam. Sometimes it's a tiny spot you didn't even feel. And then:
For tumors on the face or in sensitive places, there's a method called Mohs — the doctor removes one layer, checks it under a microscope, and only if needed — continues. That way as little healthy skin as possible is removed. It takes longer but it's worth it.
For superficial, small tumors, sometimes a special cream (Imiquimod) is applied or a light treatment (PDT) is done — with no cutting at all. The doctor decides what fits best.
It varies a lot. Some people with Gorlin remove one tumor every few years. Some need more. There's no way to know in advance — which is why follow-up with the skin doctor is important: when you catch it early, the procedure is small and simple.
In Gorlin, cysts sometimes form in the jaw — small fluid-filled sacs that grow slowly inside the jawbone. They're not cancerous and not dangerous, but they need to be treated so they don't press on teeth or bone.
Usually on a panoramic dental radiograph — a wide image where you can see the whole jaw. The cyst looks like a roundish dark patch. Sometimes it's found by chance, and sometimes you feel swelling or pressure.
During the procedure — no, because you're numb or asleep. After — there's swelling and discomfort for a few days, treated with regular painkillers. Most kids get back to normal within a week.
Sometimes a cyst grows next to a tooth or pushes teeth around. The doctor will try to save the teeth, but sometimes one tooth needs to come out. That's a situation the oral & maxillofacial surgeon plans for in advance.
Gorlin syndrome doesn't only affect skin and teeth. It also causes a few features in the body that you may have already noticed. They don't interfere with function in most cases — but it's good for you to know what they are.
Many people with Gorlin have a head that's a bit larger than average. It doesn't say anything about what's inside — it's just structure. If your head circumference was measured on the larger side — that's part of the syndrome and not a reason to worry.
In some kids with Gorlin, the forehead is a bit more prominent than usual. This too is a structural feature — cosmetic only, not medical.
On a chest X-ray you can sometimes see a "split" rib (bifid rib) — a rib whose end splits into two. It doesn't hurt, doesn't interfere with breathing, and you can't feel it at all. The doctor might note it, but there's nothing to do — and nothing that needs doing.
This is one of the most characteristic signs: tiny sunken dots on the palms or soles. They're 2–3 mm in size and don't hurt. Not everyone sees them — sometimes you need to look closely. They're harmless and don't need treatment.
Tip: if you wet your palms and look under a strong light, you can see them easily. Some people actually think it's kind of cool — a unique mark that only you have.
Because of the cysts in the jaw, sometimes permanent teeth are delayed in coming in, or they come in a different spot. The dentist keeps track of this and plans ahead.
In a small share of kids there's a slight difference between the eyes (hypertelorism) or a mild squint. If there is — an eye doctor keeps track and treats it. If there isn't — great.
Yes! The skeletal features of Gorlin don't limit physical activity. You can run, swim, play basketball, ride a bike — like everyone. Just remember sun protection during outdoor activity.
Most kids with Gorlin don't need daily medicine. But when you reach an older age and a lot of BCC tumors start appearing, there are drugs that can help.
They're called "Hedgehog Inhibitors." Hedgehog is the name of a pathway in cells — not the hedgehog from the game. The drugs block this pathway, and tumors shrink or stop growing.
There's a new drug in trials called Patidegib — an ointment applied directly to the skin. The advantage: fewer side effects because the drug doesn't go into the whole body. Still being tested, but it's a promising direction.
Usually not at your age. Most drug treatment starts at age 20–30+, when a lot of BCCs start appearing. At your age, the main treatment is surveillance + sun protection. But it's good to know what's ahead — so you're not surprised.
Not all kids with Gorlin need a brain MRI — but some do, especially if you have a mutation called SUFU (your parents can tell you). If you've already had an MRI — you know what it is.
A machine that photographs the inside of the body using a magnet — no radiation (and that's important for us!). You lie inside a tunnel that makes a loud noise, with headphones. It takes 20–40 minutes. It doesn't hurt at all.
In kids with a SUFU mutation, there's a small chance of a brain tumor called medulloblastoma. The MRI checks that everything's OK. In the vast majority of cases — everything is fine. And even if something is found, it's caught very early and it's much easier to treat.
Usually this follow-up is done until age 5, and after that the risk drops a lot. If you're over 5 and no longer getting an MRI — it's a sign that everything's fine.
This section updates the fastest. The goal: to give the patient a tool to follow along, understand what's available, and when it's worth checking whether they're a fit for a clinical trial. Recommended to check every 3–6 months for updates.
A Hedgehog inhibitor in an ointment — minimizing systemic absorption, and therefore fewer side effects like dysgeusia and alopecia. Phase 2 results were published in the British Journal of Dermatology in April 2025 (63% complete response in treated lesions). Phase 3 (Sol-Gel/SGT-610) completed enrollment in August 2025 — 113 patients at 40 sites in the US and Europe. Top-line results expected Q4 2026. Update (September 2026): the last patient completed the last study visit and the trial has ended (102 of the 113 patients completed it); the company is proceeding with database lock and analysis, and top-line results are expected in late November 2026. No efficacy or safety results have been released yet — see the timeline.New (Oct '26)
Sources: BJD Phase 2 paper · Sol-Gel Q2 2025 update · ClinicalTrials.gov NCT06050122 · Sol-Gel — LPLV announcement, 17 Sep 2026 · Gorlin Syndrome Alliance (clinicaltrials@gorlinsyndrome.org)
A long-established, inexpensive antifungal drug found to be an indirect Hedgehog inhibitor. Phase IIb data (HP2001): 38 patients, 477 lesions, 57.7% response with ≥30% reduction. The company is developing a proprietary amorphous formulation of itraconazole, intended to improve absorption. In 2024 a PIND was filed with the FDA; in 2026 a Type C meeting was granted. The company (Inhibitor Therapeutics) is choosing a 505(b)(2) pathway — a PK study is underway in Malaysia, final sampling May 2026, followed by an NDA. Update (September 2026): the pilot bioavailability study was completed and a 75 mg formulation selected; the company proposes "surgically eligible BCCs" as the primary endpoint and is awaiting FDA written responses to a Type C package (goal date end of September 2026) — see the timeline.New (Oct '26)
Source: INTI press release, March 2026 · Inhibitor Therapeutics — key developments, 8 Sep 2026
NCT06623201 — a trial combining a Hedgehog inhibitor (Sonidegib) with photodynamic therapy. Active, recruiting. The idea: synergy — less systemic drug, fewer side effects, increased efficacy. ClinicalTrials.gov NCT06623201
A 2016 Stanford study (Ally et al., JAMA Dermatology): a sequential combination reduced GLI1 mRNA by 75% from baseline in mBCC patients resistant to SMO inhibitors. No patient showed tumor shrinkage — possibly due to transient GLI1 suppression with sequential dosing. Research value as a proof-of-concept; not clinical practice. PMID 26765315
The MIKIE study (Lancet Oncology 2017) established two intermittent Vismodegib regimens (12 weeks on / 8 weeks off, and 24/8). Later studies (2023–2025) added quicker regimens (week-on/off, month-on/off). Maintaining efficacy with a significant reduction in side effects. Especially recommended in BCNS given the long-term treatment. Lancet Oncology MIKIE · Curr Treat Options Oncol 2025 review
A new, non-surgical approach: a patch with dissolving microneedles that release Doxorubicin directly into the BCC lesion (intradermal), with a high local concentration and minimal systemic exposure. The advantage for a Gorlin patient — a treatment that can be repeated across multiple lesions, as an alternative to repeated surgeries. Medicus Pharma filed Orphan Drug Designation (April 2026) and Rare Pediatric Disease Designation (June 2026) requests with the FDA. In July 2026 the FDA authorized the start of the registrational Phase 2b trial in Gorlin patients (SKNJCT-005, previously numbered SKNJCT-004; up to 50 patients, 200µg dose). Following FDA feedback the company agreed to amend the protocol: the primary endpoint will require both clinical and histological clearance, and follow-up will be extended from 24 weeks to at least two years. The amended protocol and the enrollment start date have not yet been published, and it is not yet clear whether the trial will remain open-label. In collaboration with the Gorlin Syndrome Alliance (GSA), an Expanded Access IND pathway is being advanced for compassionate access. Still investigational, not yet approved. Update (September 2026): Medicus will develop SkinJect for Gorlin only; the FDA office that handles rare-disease drug designations (OOPD) has questioned whether Gorlin BCC is a distinct disease and is holding the ODD and RPDD requests in abeyance pending more information — see the timeline.New (Oct '26)
Sources: Medicus Pharma RPDD, June 2026 · ODD, April 2026 · Medicus Pharma — FDA "Study May Proceed", 27 Jul 2026 · Medicus Pharma — exclusive Gorlin focus, 21 Sep 2026
Odontogenic keratocysts (OKC) are a major manifestation of Gorlin, with a prevalence comparable to that of BCC, and they tend to recur after surgical removal — so many patients undergo repeated jaw surgeries over a lifetime. In August 2026 Sol-Gel filed a provisional patent application for an intra-cystic injectable hedgehog inhibitor — a local treatment delivered directly into the cyst instead of surgery. According to the company, the direction was presented to the leadership of the Gorlin Syndrome Alliance (GSA) and well received. An important caveat: this is a patent-filing stage only — there is no compound in clinical development, no trial, no timeline, and the company states it is still assessing the economic feasibility of the project.
Sources: Sol-Gel Q2 2026 corporate update, 20 Aug 2026 · GSA — Sol-Gel Study Update, 31 Aug 2026
The tool you mentioned — trialfinder.care. Shows active trials; you can filter by location and by criteria.
The full, authoritative database. Search "Gorlin Syndrome" filtered to "Recruiting". Shows status, sites, inclusion/exclusion criteria, contact details.
For European trials: euclinicaltrials.eu.
You can set up an automatic email alert for every new article: PubMed Gorlin search → "Create alert".
| Area | Status October 2026 | Outlook |
|---|---|---|
| Patidegib topical Phase 3 (SGT-610) | LPLV 17 Sep 2026; study completed (113 enrolled, 102 completed); database lock and analysis underway | Top-line late November 2026; KOL day 14 Oct 2026 |
| SkinJect (D-MNA) — Doxorubicin microneedle | FDA "Study May Proceed" 07/2026; SKNJCT-003 CSR posted 09/2026; development now Gorlin-only; ODD and RPDD requests held in abeyance by the FDA (09/2026) | Registrational Phase 2b in Gorlin (SKNJCT-005), up to 50 patients — amended protocol and start date not announced |
| Itraconazole — NDA pathway | Type C package 07/2026 (surgically eligible BCC endpoint, 505(b)(2), external control); FDA written responses due end 09/2026 | NDA via 505(b)(2) — timing depends on the FDA responses |
| Itraconazole — proprietary formulation (75 mg) | Pilot bioavailability study (ITZ101) done — 75 mg amorphous formulation ≈ TOLSURA 65 mg; provisional patent 08/2026 | 75 mg formulation to be advanced as part of the NDA pathway |
| AlphaFold3 SUFU variant analysis | Preprint 01/2026 (Bardwell) | Basic research, clinical use years away |
| AI-assisted dermoscopic BCC detection | JMIR 2025 meta-analysis | Routine screening within 2–3 years |
| Gene therapy (PTCH1) | Preclinical studies | Translation to humans — many years |
| OKC — intra-cystic injectable hedgehog inhibitor | Provisional patent filing 08/2026 (Sol-Gel) | Concept stage — no compound, no trial |
| LC-OCT / RCM — non-invasive imaging | Narrative review + case report 07/2026 | Available at specialized centers; not routine practice |
| mRNA-based individualized neoantigen therapy | Positive Phase 3 in melanoma 08/2026 (INTerpath-001) | Not for BCC or Gorlin — a long-range watch item |
| Quality of life and mental health in Gorlin | Cross-sectional study 08/2026 (n=62) | Screening for anxiety and executive function — not yet in guidelines |
| Genotype–phenotype — national cohorts | Norway, n=103 (BJD 2026): 21 novel PTCH1 variants; autism 4%, epilepsy 7%; milder exon-1 family | Needs replication in other cohorts; feeds the GSA precision-medicine track |
| Are Gorlin lesions biologically different? | GLI1/Ki-67 in OKC 09/2026 (n=22): no syndromic vs sporadic difference; FDA OOPD treats Gorlin BCC as the same disease as sporadic BCC | Open GSA research question — small, early data |
| SHH-MB chemo-only protocols | Open COG protocols | Data maturing 2026+ |
Find more information, connect to the community, or follow professional updates yourself.
Consensus documents for physicians, produced by international groups. These are the gold standard for surveillance and treatment protocols.
Gorlin Syndrome[Title/Abstract] OR NBCCS[Title/Abstract].You'll get new articles automatically, with no need to search again.
A general overview in English of the syndrome — history, genetics, manifestations, surveillance protocols. English subtitles available. When parallel Hebrew video content is created, it will replace this.
Source: YouTube — Gorlin Syndrome
| Term | Meaning |
|---|---|
| BCC (Basal Cell Carcinoma) | Basal cell carcinoma. A common type of skin cancer, local, that almost never metastasizes. |
| NBCCS | Nevoid Basal Cell Carcinoma Syndrome — another name for Gorlin syndrome. |
| OKC / KCOT | Odontogenic Keratocyst / Keratocystic Odontogenic Tumor — an odontogenic cyst in the jaw. |
| PTCH1, SUFU | The names of the genes associated with the syndrome. |
| Hedgehog Pathway | A cellular signaling pathway responsible for development; its disruption causes BCC tumors. |
| HHI (Hedgehog Inhibitor) | A drug that blocks the Hedgehog pathway. Examples: Vismodegib, Sonidegib. |
| Vismodegib (Erivedge) | An oral drug, a Hedgehog inhibitor, that shrinks and prevents BCCs. |
| Sonidegib (Odomzo) | An oral drug similar to Vismodegib, with relatively better tolerability at 200mg. |
| Patidegib | A Hedgehog inhibitor in development, a topical version (ointment). |
| Mohs Surgery | A precise surgical technique for removing skin cancer with minimal damage to surrounding tissue. |
| PDT (Photodynamic Therapy) | Light-based treatment — a light-sensitive substance is applied, then illuminated to kill tumor cells. |
| Falx Cerebri | A membrane in the brain between the two hemispheres. Its calcification is characteristic of Gorlin. |
| Medulloblastoma | A brain tumor that can occur in childhood, especially with a SUFU mutation. |
| Macrocephaly | A head circumference larger than average (above the 95th percentile). |
| Bifid Rib | A split rib — a common skeletal feature in Gorlin. |
| Palmoplantar Pits | Small pits on the palms and soles — a classic diagnostic sign. |
| Fibroma | A benign tumor of connective tissue. Common in the heart and ovaries in Gorlin patients. |
| Penetrance | The percentage of people with the mutation who develop a clinical manifestation. |
| De Novo | A new mutation, not present in the parents. |
| PGD | Pre-implantation Genetic Diagnosis — genetic testing of embryos during in vitro fertilization. |
Before you read — please note
This English edition was edited and partly translated with the help of AI. It has been reviewed for accuracy, but it is not a substitute for professional medical advice. Wherever possible, seek clarification and guidance from a qualified human clinician, and never treat information found online — here or anywhere else — as medical instruction.
The purpose of this site is to help patients and families understand the causes, circumstances, diagnosis, and the wide range of symptoms and effects of Gorlin syndrome — so that it becomes clear which medical care is essential for them, and where to seek it.