What Is Brooke-Spiegler Syndrome? Symptoms, Causes, and Treatment Options
Updated: 2 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 2026
Quick Answer: What is Brooke-Spiegler syndrome?
Brooke-Spiegler syndrome (BSS) is a rare, inherited skin condition caused by a CYLD gene mutation that produces round skin tumors, usually starting on the face, neck and scalp in the teens or early 20s. The tumors are mostly benign but become malignant in about 5% to 10% of cases. There is no cure, but surgery and other treatments manage it. [5]
Key takeaways
BSS is a rare skin condition that causes tumors on the skin, most often the face, neck, and scalp; it affects roughly 1 in 100,000 people. [5]
The tumors are usually benign but can sometimes become malignant, [5] and large tumors may become open wounds at risk of infection.
BSS is caused by a mutation in the CYLD gene and is usually inherited; children of a carrier have a 50% chance of developing the condition. [5] [1]
Tumors usually first appear in the teens or early 20s [5] and increase in number through the 30s and 40s; women often have more tumors. [5]
There is no cure, but surgery, skin grafting, laser, freezing, and electrical treatments can remove tumors, and medications may slow growth. [5]
Frequent skin exams — at least yearly — help catch malignant tumors early, and most people with BSS lead full, active lives. [5]
What the research says
About 5–10% of people with BSS develop malignant tumors, and most have a CYLD mutation. A review of Brooke-Spiegler syndrome and its variants reports that malignant tumors arise in association with preexisting benign skin tumors in about 5–10% of patients, and that germline CYLD mutations are found in about 80–85% of patients with the classic BSS phenotype and about 40–50% of those with the multiple familial trichoepithelioma variant (Kazakov, Head Neck Pathol, 2016) [1].
Tumors typically start at puberty, and genetic testing can confirm the diagnosis. A review of CYLD cutaneous syndrome notes that the first tumors typically appear during puberty and build up through adulthood, that penetrance is typically high with equal numbers of males and females affected, and that more than 100 single-nucleotide variants and small insertions or deletions have been described in CYLD coding exons; genetic testing supports diagnosis, genetic counselling, and family planning (Nagy et al., Appl Clin Genet, 2021) [2].
What Is Brooke-Spiegler Syndrome (BSS)?
Brooke-Spiegler syndrome (BSS) is a rare skin condition that causes tumors to grow on the skin. These tumors appear most often on the face, neck, and scalp, though they may also grow on other parts of the body. [4] They tend to appear in the teens or early 20s. [5]
These tumors are usually noncancerous (benign). But they can sometimes become cancerous (malignant) over time. [5] [1] Large, noncancerous tumors may become open wounds, putting them at risk of infection.
BSS is usually inherited from biological parents as a genetic condition, though sometimes people with no family history of BSS have the condition. Providers often treat it with surgery. [5] With proper treatment, most people with BSS can continue to lead full and active lives.
Other Names for BSS
Alternative name | Details |
Ancell-Spiegler cylindromas | Historical tumor-based name |
CYLD cutaneous syndrome (CCS) | Name based on the responsible gene |
Familial cylindromatosis (FC) | Name reflecting the inherited tumor pattern |
Multiple familial trichoepitheliomas (MFT) | Name reflecting the facial tumor type |
Spiegler-Brooke syndrome | Reversed ordering of the eponym |
How Common Is Brooke-Spiegler Syndrome?
BSS is a rare condition. Researchers estimate that it affects roughly 1 out of every 100,000 people [5].
Brooke-Spiegler Syndrome Symptoms
The main symptoms of BSS are tumors that grow on the skin. They usually first appear on the face, neck, and scalp. The tumors are round and most often measure between 0.5 and 3 centimeters (cm) [4] [5].
More tumors usually develop over time. They may grow larger and become disfiguring. They are often painful and, if they occur on the skin of the genitals, may cause sexual dysfunction. Tumors can also cover the entire scalp and cause hair loss [4]. These symptoms can lead to depression [5].
People with BSS may also have small, white bumps on the skin (milia). Milia are harmless but can be upsetting to have. [5]
The Three Types of Skin Tumors in BSS
BSS includes three main types of skin tumors, and some tumors may be combinations of two or more of these types:
Tumor type | Appearance and location | Size and color |
Cylindromas | Smooth, pink nodules, usually on scalp hair follicles; may also appear on the face and ears, rarely in the lungs | Several millimeters to several centimeters; often form a jigsaw puzzle pattern on the scalp |
Spiradenomas | Firm nodules on the scalp, neck, and upper body; sometimes painful | Under 1 cm to several cm; most often blue or flesh-colored, but may be grey, pink, purple, red, or yellow |
Trichoepitheliomas | Firm, shiny nodules, most often on facial hair follicles | Usually less than 1 cm; may be blue, brown, flesh-colored, pink, or yellow |
How BSS Affects Other Parts of the Body
Tumors may also grow on other parts of the body, affecting function depending on location:
Body area | Possible effect |
Airways | Can affect breathing |
Ears | Can impact hearing |
Eyes | Can affect vision |
Genitals | Can impact sexual function |
Mouth and salivary glands | Can impact the ability to chew and swallow |
Nose | Can affect the sense of smell |
What Causes Brooke-Spiegler Syndrome?
Genetic changes (mutations) in the CYLD gene cause BSS. [4] In most cases, one biological parent carries this gene mutation, which the child inherits. [5]
In rare cases, the gene mutation occurs spontaneously after conception (de novo mutation) without any family history of BSS. The mutation may also be present only on certain parts of the body, causing segmental skin tumors [5].
Risk Factors
People of every age, race, and sex can have BSS [5], but risk is higher if one parent carries the genetic mutation.
Risk factor | Details |
Inheritance pattern | Autosomal dominant — one carrier parent has symptoms |
Chance of passing it on | 50% chance a child develops BSS if one parent carries the mutation |
Typical age of onset | Symptoms usually appear as teenagers or young adults |
Tumor progression | The number of tumors often increases in the 30s and 40s |
Sex | Women often have more tumors |
How Is Brooke-Spiegler Syndrome Diagnosed?
The healthcare provider will first ask about symptoms, medical history, and family medical history, and perform a physical exam [5].
If BSS is suspected, the provider will do a skin biopsy. A sample of cells within a tumor is removed and sent to a laboratory for examination under a microscope. [4] [5]
The provider may also suggest genetic testing, which can find the gene changes that cause BSS. [4] [5] [2]
How Is Brooke-Spiegler Syndrome Treated?
Is there a cure for BSS? Unfortunately, there is no cure. But treatments remove tumors and keep the condition from getting worse. [5]
Surgical excision is a common approach. [5] The provider uses a scalpel to cut out the tumors, trying to keep as much of the surrounding skin or scalp as possible. [5]
If large areas of the scalp need to be removed, the doctor may recommend split-thickness skin grafting [4]. The surgeon takes one layer of skin from another part of the body — often the buttocks or upper thigh — and uses it to cover the wound and help it heal. [5]
Other procedures used to treat BSS include:
Procedure | How it works |
Carbon dioxide laser resurfacing | Lasers remove thin layers of skin without damaging surrounding tissue |
Cryotherapy | Extreme cold freezes tumor tissue |
Dermabrasion | A rotating instrument removes the top layer of skin |
Electrodessication | An electric current dries out tissue in the tumors |
Fulguration | An electric current destroys tumors |
Hyfrecation | A small needle with an electrical pulse burns away the tumor |
Mohs surgery | The tumor is cut away along with a margin of healthy tissue for testing |
Photodynamic therapy | Light activates drugs (photosensitizers) to destroy tumors |
What Is the Outlook With Brooke-Spiegler Syndrome?
BSS is a lifelong health condition, but people with BSS can lead full lives. [5]
About 5% to 10% of people with BSS develop malignant tumors. [4] [5] [1] People with BSS have an increased risk of:
Cancer risk | Details |
Adenocarcinoma cancers | Gland-forming cancers |
Basal cell carcinoma | Common skin cancer type |
Salivary gland cancer | Including adenoid cystic carcinoma |
Sarcomatoid carcinoma | Rare aggressive carcinoma |
Squamous cell carcinoma | Second most common skin cancer type |
It is common for tumors to recur, so additional surgeries or treatments may be needed to remove new tumors. [5]
Can You Prevent Brooke-Spiegler Syndrome?
Unfortunately, there is no way to reduce the risk of developing BSS. However, treatment can help reduce the number and size of tumors. [5]
Living With Brooke-Spiegler Syndrome
Self-care focuses on monitoring the skin and protecting it from further damage:
Self-care step | Why it matters |
Annual skin exams with a dermatologist | Professional monitoring catches changes early |
Exams every 3–4 months for frequent recurrences | Closer follow-up for recurring tumors |
Monthly skin self-exams | Catches new or changing tumors at home |
Daily sunscreen use | Helps prevent sun-damaged skin and skin cancer |
Having skin tumors — especially on the face and head — can be extremely distressing. Though BSS tumors are usually benign, it can be even more upsetting to see them spread and grow over time. Providers can suggest treatments, like surgery, to remove these tumors, although they may grow back. Frequent skin exams help catch any malignant tumors at an early stage. With treatment, most people return to day-to-day activities with less worry.
Conclusion
Brooke-Spiegler syndrome is a rare, inherited skin condition that turns everyday life into a study of self-awareness — round tumors appearing on the face, neck, and scalp, sometimes multiplying and growing through the decades. The CYLD gene mutation behind it cannot be prevented, and there is no cure, but the condition is highly manageable. Surgical excision, skin grafting, lasers, freezing, electrical treatments, and medications can all play a role, and regular dermatologist exams help catch the small percentage of tumors that turn malignant before they spread.
Most people with BSS lead full, active lives, and treatment often returns them to day-to-day activities with far less worry. For anyone communicating health information, visual guides to skin conditions and treatment pathways make complex dermatology topics far easier to grasp. Explore Rinnit's infographic templates to build educational visuals for topics like this one.
Frequently Asked Questions
What is Brooke-Spiegler syndrome (BSS)?
BSS is a rare skin condition that causes tumors on the skin, most often on the face, neck, and scalp. The tumors are usually benign but can sometimes become cancerous over time. It is usually inherited and tumors typically appear in the teens or early 20s.
How common is Brooke-Spiegler syndrome?
Brooke-Spiegler syndrome is rare. Researchers estimate BSS affects roughly 1 out of every 100,000 people.
Is Brooke-Spiegler syndrome genetic?
Yes. Genetic changes (mutations) in the CYLD gene cause BSS, and one biological parent usually carries the mutation. In rare cases, the mutation occurs spontaneously after conception with no family history.
What is the CYLD gene mutation?
Mutations in the CYLD gene cause BSS. The mutation may affect the whole body or only certain parts, in which case it causes segmental skin tumors.
How is Brooke-Spiegler syndrome inherited?
BSS is an autosomal dominant disorder. If one parent carries the mutation — and has symptoms — there is a 50% chance a child will also have BSS.
Can you have BSS with no family history?
Yes, in rare cases. The gene mutation can occur spontaneously after conception (de novo mutation), producing BSS without any family history of the condition.
What do the tumors look like?
The tumors are round, usually between 0.5 and 3 centimeters, and appear most often on the face, neck, and scalp. They may grow larger and become disfiguring over time.
What are the three types of tumors in BSS?
Cylindromas (smooth pink nodules, often in a jigsaw pattern on the scalp), spiradenomas (firm nodules on the scalp, neck, and upper body, sometimes painful), and trichoepitheliomas (firm shiny nodules, usually under 1 cm, on facial hair follicles).
Are BSS tumors cancerous?
Most BSS tumors are benign. However, they can sometimes become malignant over time, and about 5% to 10% of people with BSS develop malignant tumors.
Can large BSS tumors become wounds?
Yes. Large, noncancerous tumors may become open wounds, which are at risk of infection.
What are milia in BSS?
Milia are small, white bumps on the skin. They are harmless but can be upsetting. They may appear alongside the main tumors.
Do BSS tumors hurt?
BSS tumors are often painful, particularly spiradenomas. Some tumors also become disfiguring as they grow.
Can BSS tumors cause hair loss?
Yes. Tumors that cover the entire scalp can cause hair loss.
Can BSS affect the genitals?
Tumors may grow on the genitals and can cause sexual dysfunction.
Can BSS affect breathing, hearing, or vision?
Yes. Tumors may grow on the airways (affecting breathing), ears (impacting hearing), eyes (affecting vision), nose (affecting smell), and mouth or salivary glands (impacting chewing and swallowing).
When do BSS symptoms first appear?
Most people first show symptoms as teenagers or young adults. The number of tumors often starts to increase in the 30s or 40s.
Who is at risk of Brooke-Spiegler syndrome?
People of every age, race, and sex can have BSS. Risk is highest if one parent carries the CYLD gene mutation. Women often have more tumors than men.
How is BSS diagnosed?
The provider reviews symptoms, medical history, and family history, and performs a physical exam. A skin biopsy sends a cell sample from a tumor to a laboratory for microscopic examination. Genetic testing may also be used to find the gene changes that cause BSS.
Is there a cure for Brooke-Spiegler syndrome?
No. There is no cure, but treatments remove tumors and keep the condition from getting worse.
How are BSS tumors removed?
A common treatment is surgical excision with a scalpel, keeping as much surrounding skin as possible. For large scalp areas, split-thickness skin grafting may be used, with donor skin taken from the buttocks or upper thigh.
What are the non-surgical treatments for BSS?
Options include carbon dioxide laser resurfacing, cryotherapy, dermabrasion, electrodessication, fulguration, hyfrecation, Mohs surgery, and photodynamic therapy. Medications may also help stop tumors from growing.
How does Mohs surgery work for BSS?
Mohs surgery removes the tumor along with a margin of healthy tissue around it, which is then tested to confirm clear margins.
What cancers are people with BSS at higher risk for?
People with BSS have an increased risk of adenocarcinoma cancers, basal cell carcinoma, salivary gland cancer (including adenoid cystic carcinoma), sarcomatoid carcinoma, and squamous cell carcinoma.
Will BSS tumors come back after removal?
Recurrence is common. Additional surgeries or other treatments may be needed to remove new tumors as they appear.
How often should someone with BSS see a dermatologist?
At least once a year for a skin exam. People with frequently recurring tumors may see their provider every three to four months.
Should someone with BSS do skin self-exams?
Yes. A monthly skin self-exam helps catch new or changing tumors early.
Does sunscreen help with BSS?
Sunscreen helps prevent sun-damaged skin and skin cancer, which is especially important for people with BSS and their increased skin cancer risk.
Can BSS be prevented?
No. There is currently no way to reduce the risk of developing BSS, though treatment can reduce the number and size of tumors.
Can people with BSS live normal lives?
Yes. BSS is lifelong, but with proper treatment — including surgery, skin exams, and self-care — most people with BSS can lead full, active lives and return to day-to-day activities with less worry.
Related Reading
References
Kazakov DV. Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. Head Neck Pathol. 2016;10(2):125-130. PMID: 26971504. https://doi.org/10.1007/s12105-016-0705-x
Nagy N, Dubois A, Szell M, et al. Genetic Testing in CYLD Cutaneous Syndrome: An Update. Appl Clin Genet. 2021;14:427-444. PMID: 34744449. https://doi.org/10.2147/TACG.S288274
Manchanda K, Bansal M, Bhayana AA, et al. Brooke-Spiegler syndrome: a rare entity. Int J Trichology. 2012;4(1):29-31. PMID: 22628987. https://doi.org/10.4103/0974-7753.96084
Mohiuddin W, Laun J, Cruse W. Brooke-Spiegler Syndrome. Eplasty. 2018;18:ic14. PMID: 30093932. https://pubmed.ncbi.nlm.nih.gov/30093932/
Cleveland Clinic. Brooke-Spiegler Syndrome: What It Is, Causes & Treatment. Cleveland Clinic. Last updated October 16, 2023. https://my.clevelandclinic.org/health/diseases/brooke-spiegler-syndrome
Medical disclaimer
This article is for general informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a qualified healthcare provider with any questions about a medical condition. If you notice new, changing, or painful skin growths, consult a dermatologist promptly.
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