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PubMed This is a summary of 21 peer-reviewed journal articles Updated
Dermatology

Understanding Your Diagnosis: An Orientation to Gorlin Syndrome

At a Glance

Gorlin syndrome (NBCCS) is a rare genetic condition causing multiple skin cancers and benign jaw cysts. While lifelong management is required, most tumors aren't life-threatening. Early detection, a specialist care team, and avoiding radiation therapy are key to living a full, active life.

Receiving a diagnosis of Gorlin syndrome—also known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS)—can feel overwhelming. It is natural to feel a sense of shock or worry when you hear terms like “tumor” and “genetic disorder” [1]. However, it is important to know that you are not alone, and while this condition requires lifelong attention, it is highly manageable with a proactive approach [2][3].

Gorlin syndrome is a rare autosomal dominant disorder, meaning it can be passed down from a parent or occur for the first time in an individual due to a new genetic change [1][3]. It affects approximately 1 in 60,000 to 1 in 100,000 people [4][5]. Because it is a multisystem condition, it affects several parts of the body, but the most frequent challenges are related to the skin and the jaw [2][6].

Three Stabilizing Facts for Your Journey

  1. Most tumors are non-life-threatening: The primary features of Gorlin syndrome are Basal Cell Carcinomas (BCCs) and Odontogenic Keratocysts (OKCs) [2][7]. While “carcinoma” means cancer and “cyst” sounds daunting, BCCs rarely spread to other parts of the body (metastasize) [2][1]. However, if left untreated, they can be highly locally destructive and cause significant disfigurement or loss of function (especially near the eyes, nose, or mouth), making early treatment essential [3].
  2. Early detection is your most powerful tool: With regular screenings, most issues can be identified and treated while they are small and easily managed [3][8].
  3. You can lead a full, active life: Gorlin syndrome is a chronic condition, much like asthma or diabetes, that requires a management plan rather than an emergency intervention [2][9].

Understanding the Primary Features

The condition is mainly caused by a mutation in the PTCH1 gene, which is responsible for controlling cell growth [10][11]. When this gene isn’t working correctly, cells can grow when they shouldn’t, leading to several signature features:

  • Basal Cell Carcinomas (BCCs): These are a common type of skin cancer. In Gorlin syndrome, they can appear much earlier in life than usual and in greater numbers [12][13]. They often look like small, pearly bumps or flesh-colored patches [7].
  • Odontogenic Keratocysts (OKCs): These are benign (non-cancerous) but aggressive cysts that grow in the jawbone [14][15]. They often appear during the teenage years and require monitoring by a specialized dentist or oral surgeon to prevent damage to the jaw or teeth [14][16].
  • Palmar and Plantar Pits: These are tiny, harmless indentations on the palms of the hands or soles of the feet [7][17]. They are often one of the earliest signs of the syndrome [17].
  • Skeletal Findings: Many people with Gorlin syndrome have unique bone features, such as “bifid ribs” (ribs that are split at the end) or a slightly larger head size (macrocephaly) [7][18].

What to Expect Over Time

Gorlin syndrome follows a predictable but manageable course. In childhood, the focus is often on monitoring for rare but serious issues like medulloblastoma (a type of brain tumor) or cardiac fibromas (benign heart tumors) [18][19]. As you move into adolescence and adulthood, the focus shifts toward skin protection and managing jaw cysts [12][14].

A critical rule for management is the avoidance of therapeutic radiation [3][20]. Because the cells in people with Gorlin syndrome are highly sensitive, radiation used for traditional cancer treatments can trigger a “storm” of many new BCCs in the treated area [20]. Instead, your team will use surgeries, topical creams, or newer oral medications called Hedgehog pathway inhibitors to manage the condition [1][21].

Your diagnosis is the first step in taking control. By building a team of specialists—including a dermatologist, an oral surgeon, and a geneticist—you can create a roadmap that keeps you healthy and informed [2][3].

Common questions in this guide

What are the primary physical features of Gorlin syndrome?
The most common features of Gorlin syndrome are multiple basal cell carcinomas (a type of skin cancer), jaw cysts called odontogenic keratocysts, and harmless tiny pits on the palms and soles. Many individuals also have unique bone features like split ribs or a slightly larger head size.
Is a Gorlin syndrome diagnosis life-threatening?
While terms like carcinoma and cyst sound frightening, the most common tumors in Gorlin syndrome rarely spread to other parts of the body. They are typically not life-threatening, but early detection and treatment are crucial to prevent them from causing localized tissue damage or disfigurement.
Why is it important to avoid therapeutic radiation if you have Gorlin syndrome?
Individuals with Gorlin syndrome have cells that are highly sensitive to radiation. Using therapeutic radiation to treat cancers can trigger a storm of many new basal cell carcinomas in the treated area, making non-radiation treatments like surgery or targeted medications much safer alternatives.
What causes Gorlin syndrome to develop?
The condition is most often caused by a mutation in the PTCH1 gene, which is responsible for regulating cell growth. When this gene does not function properly, cells can grow when they shouldn't, resulting in the signature tumors and cysts associated with the syndrome.
Which medical specialists should be on my Gorlin syndrome care team?
Because Gorlin syndrome affects multiple body systems, you will need a multidisciplinary team. This typically includes a dermatologist for routine skin checks, an oral surgeon or specialized dentist to monitor and treat jaw cysts, and a geneticist or genetic counselor.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What specific gene mutation (PTCH1, PTCH2, or SUFU) was identified in my or my child's genetic test?
  2. 2.Can we establish a multidisciplinary team including a dermatologist, dentist/oral surgeon, and genetic counselor?
  3. 3.What is our personalized surveillance schedule for skin checks and jaw X-rays?
  4. 4.Are there any specific imaging tests (like an MRI or echocardiogram) needed now to establish a baseline?
  5. 5.Which local specialists have the most experience treating patients with Gorlin syndrome?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (21)
  1. 1

    A Rare Case of Gorlin-Goltz Syndrome in Children.

    Boos Lima FBDJ, Viana APC, Lima LHF, et al.

    Case reports in dentistry 2019; (2019()):1608783 doi:10.1155/2019/1608783.

    PMID: 31934460
  2. 2

    Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.

    Spadari F, Pulicari F, Pellegrini M, et al.

    Maxillofacial plastic and reconstructive surgery 2022; (44(1)):25 doi:10.1186/s40902-022-00355-5.

    PMID: 35843976
  3. 3

    Genetic aspects of Gorlin‒Goltz syndrome

    Vetró É, Oláh J, Nagy D, et al.

    Orvosi hetilap 2020; (161(49)):2072-2077 doi:10.1556/650.2020.31933.

    PMID: 33279882
  4. 4

    Long-term Response to Vismodegib in a Patient with Gorlin-Goltz Syndrome: A Case Report and Review of Pathological Mechanisms Involved.

    Kesireddy M, Mendiola VL, Jana B, Patel S

    Cureus 2019; (11(8)):e5383 doi:10.7759/cureus.5383.

    PMID: 31616614
  5. 5

    Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort.

    Rehefeldt-Erne S, Nägeli MC, Winterton N, et al.

    Dermatology (Basel, Switzerland) 2016; (232(3)):285-92 doi:10.1159/000444792.

    PMID: 27054559
  6. 6

    A case of skin lesions of basal cell nevus syndrome.

    Chen L, Sun H, Zuo M, Xi Q

    Postepy dermatologii i alergologii 2021; (38(4)):706-707 doi:10.5114/ada.2021.108902.

    PMID: 34658720
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    Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series.

    Saxena S, Sundaragiri KS, Bhargava A, Sankhla B

    Journal of oral and maxillofacial pathology : JOMFP 2020; (24(2)):315-321 doi:10.4103/jomfp.JOMFP_358_19.

    PMID: 33456241
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    Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases.

    Ali IK, Karjodkar FR, Sansare K, et al.

    Cureus 2016; (8(8)):e727 doi:10.7759/cureus.727.

    PMID: 27630800
  9. 9

    Basal Cell Nevus Syndrome with Unusual Associated Findings: A Case Report with 17 Years of Follow-Up.

    Sena YR, Jácome-Santos H, Alves Junior SM, et al.

    The American journal of case reports 2021; (22()):e928670 doi:10.12659/AJCR.928670.

    PMID: 33886530
  10. 10

    Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.

    Nakase Y, Hamada A, Kitamura N, et al.

    Human genome variation 2020; (7(1)):38 doi:10.1038/s41439-020-00126-6.

    PMID: 33298892
  11. 11

    Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.

    Gianferante DM, Rotunno M, Dean M, et al.

    Molecular genetics & genomic medicine 2018; (6(6)):1168-1180 doi:10.1002/mgg3.498.

    PMID: 30411536
  12. 12

    Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome.

    Hasan Ali O, Yurchenko AA, Pavlova O, et al.

    Journal of the European Academy of Dermatology and Venereology : JEADV 2021; (35(2)):396-402 doi:10.1111/jdv.16767.

    PMID: 32564428
  13. 13

    A Rare Case of a Symptomatic Tumor Found in the Groin Area: An Atypical Location Unexposed to the Known Causes.

    Toyonaga E, Hata H, Nakayama C, et al.

    Case reports in oncology 2015; (8(3)):536-9 doi:10.1159/000442148.

    PMID: 26997948
  14. 14

    Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families.

    Castillo-Tobar A, Urzúa B, Tirreau V, et al.

    Oral radiology 2023; (39(3)):518-527 doi:10.1007/s11282-022-00664-5.

    PMID: 36436193
  15. 15

    A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma.

    Qiu F, Lei S, Zhang L, et al.

    Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022; (47(3)):384-389 doi:10.11817/j.issn.1672-7347.2022.200925.

    PMID: 35545332
  16. 16

    Odontogenic Keratocysts as First Manifestation of Nevoid Basal Cell Carcinoma Syndrome: Surgical Management and Immunohistochemical Analysis.

    Dos Santos JL, Delgado RZR, de Oliveira GR, Rangel ALCA

    The Journal of craniofacial surgery 2018; (29(6)):1588-1590 doi:10.1097/SCS.0000000000004564.

    PMID: 29621081
  17. 17

    Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.

    Kolkiran A, Şimşek-Kiper PÖ, Topaloğlu Yasan G, et al.

    Molecular syndromology 2024; (15(3)):175-184 doi:10.1159/000535407.

    PMID: 38841331
  18. 18

    Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.

    Mochizuki AY, Nagaraj CB, Depoorter D, et al.

    American journal of medical genetics. Part A 2024; (194(10)):e63788 doi:10.1002/ajmg.a.63788.

    PMID: 38864234
  19. 19

    Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome.

    Ritter AL, Granquist EJ, Iyer VR, Izumi K

    Molecular syndromology 2018; (9(4)):219-223 doi:10.1159/000489056.

    PMID: 30140199
  20. 20

    Basal cell nevus syndrome: From DNA to therapeutics.

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    PMID: 32972605
  21. 21

    Gorlin Syndrome-Associated Basal Cell Carcinomas Treated with Vismodegib or Sonidegib: A Retrospective Study.

    Murgia G, Valtellini L, Denaro N, et al.

    Cancers 2024; (16(12)) doi:10.3390/cancers16122166.

    PMID: 38927872

This page provides an orientation to Gorlin syndrome for educational purposes only. Always consult your multidisciplinary healthcare team for personalized medical advice, diagnosis, and treatment.

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