Brooke-Spiegler Syndrome

What is Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome (BSS) is a rare type of skin condition. BSS causes tumors on the skin of your face, neck and scalp. Tumors may also grow on other parts of your body. They tend to appear in your teens or early 20s.

These tumors are usually noncancerous (benign). But they can sometimes become cancerous (malignant) over time. Large, noncancerous tumors may become open wounds, at risk of infection.

You usually inherit Brooke-Spiegler syndrome from your biological parents (a genetic condition). But sometimes, people with no family history of BSS have the condition.

Providers often treat Brooke-Spiegler syndrome with surgery. With proper treatment, most people with BSS can continue to lead full and active lives.

What are other names for Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome is also called:

• Ancell-Spiegler cylindromas.
• CYLD cutaneous syndrome (CCS).
• Familial cylindromatosis (FC).
• Multiple familial trichoepitheliomas (MFT).
• Spiegler-Brooke syndrome.

How common is Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome is a rare condition. Researchers estimate that BSS affects roughly 1 out of every 100,000 people.

What are the symptoms of Brooke-Spiegler syndrome?

The main symptoms of BSS are tumors that grow on your skin. They usually first appear on your face, neck and scalp. The tumors are round and most often between 0.5 and 3 centimeters (cm).

You usually get more tumors over time. The tumors may also grow larger and be disfiguring. They’re often painful and, if they’re on the skin of your genitals, may cause sexual dysfunction. Sometimes, tumors cover your entire scalp and can cause hair loss. These symptoms can lead to depression.

You may also have small, white bumps on your skin (milia). Milia are harmless but can be upsetting to have.

What types of skin tumors are part of Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome includes three main types of skin tumors:

• Cylindromas: These smooth, pink nodules usually affect hair follicles on your scalp. Cylindromas may also be on your face and ears and, rarely, in your lungs. They range from several millimeters (mm) to several centimeters. Cylindromas often form a jigsaw puzzle pattern on your scalp.
• Spiradenomas: These firm nodules show up on your scalp, neck and upper body. They range from under 1 cm to several centimeters. They’re most often blue or flesh-colored, but may also be grey, pink, purple, red or yellow. Spiradenomas are sometimes painful.
• Trichoepitheliomas: These firm, shiny nodules most often affect hair follicles on your face. They usually measure less than 1 cm. They may be blue, brown, flesh-colored, pink or yellow.

Some Brooke-Spiegler syndrome tumors may be combinations of two or more of these types.

How does Brooke-Spiegler syndrome affect other parts of your body?

Tumors may also grow on other parts of your body, such as your:

• Airways, which can affect breathing.
• Ears, which can impact hearing.
• Eyes, which can affect vision.
• Genitals, which can impact sexual function.
• Mouth and salivary glands, which can impact your ability to chew and swallow.
• Nose, which can affect your sense of smell.

What causes Brooke-Spiegler syndrome?

Genetic changes (mutations) in the CYLD gene cause BSS. One of your biological parents must carry this gene mutation for you to develop this skin disease.

In rare cases, this gene mutation occurs spontaneously after conception (de novo mutation) without any family history of BSS. The gene mutation may only be present on certain parts of your body, causing segmental skin tumors.

Who might have Brooke-Spiegler syndrome?

People of every age, race and sex can have Brooke-Spiegler syndrome. But you’re more at risk of this condition if one of your parents carries the genetic mutation for BSS.

Brooke-Spiegler syndrome is an autosomal dominant disorder. This means that one of your parents is a carrier of BSS and will have symptoms of the condition. As their child, there’s a 50% chance that you’ll also have Brooke-Spiegler syndrome.

Most people first show symptoms as teenagers or young adults. The number of tumors often starts to increase when you’re in your 30s or 40s. Women and people assigned female at birth (AFAB) often have more tumors than men and people assigned male at birth (AMAB).

How is Brooke-Spiegler syndrome diagnosed?

Your healthcare provider will first ask about your symptoms, medical history and family medical history. They’ll also do a physical exam.

If your provider suspects Brooke-Spiegler syndrome, they’ll do a skin biopsy. They’ll remove a sample of cells within a tumor. Then, they send the sample to a laboratory for examination under a microscope.

Your provider may also suggest genetic testing. This test can find changes in your genes that cause BSS.

Is there a cure for Brooke-Spiegler syndrome?

Unfortunately, there’s no cure for BSS. But there are treatments to remove tumors and keep BSS from getting worse.

How is Brooke-Spiegler syndrome treated?

Your provider may recommend surgery to remove tumors. They’ll use a sharp knife (scalpel) to cut out the tumors (surgical excision). Your provider will try to keep as much of your surrounding skin or scalp as possible.

If you need large areas of scalp removed, your doctor may recommend split-thickness skin grafting. Your surgeon will remove one layer of skin from another part of your body, often your buttocks or upper thigh. They use this skin to cover the wounds and help them heal.

Other procedures to treat Brooke-Spiegler syndrome include:

• Carbon dioxide laser resurfacing, where lasers remove thin layers of skin without damaging the surrounding tissue.
• Cryotherapy, where extreme cold freezes tumor tissue.
• Dermabrasion, where a rotating instrument removes the top layer of your skin.
• Electrodessication, where an electric current dries out tissue in the tumors.
• Fulguration, where an electric current destroys tumors.
• Hyfrecation, where a small needle with an electrical pulse burns away the tumor.
• Mohs surgery, where your surgeon cuts away the tumor along with a margin of healthy tissue around it for testing.
• Photodynamic therapy, where light activates drugs (photosensitizers) to destroy tumors.

Your provider may also suggest medications that can help to stop tumors from growing.

How can I reduce my risk of Brooke-Spiegler syndrome?

Unfortunately, you can’t reduce your risk of BSS. But treatment can help reduce the number and size of tumors you have.

What can I expect if I have Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome is a lifelong health condition. But people with BSS can lead full lives.

About 5% to 10% of people with BSS develop malignant tumors. People with BSS have an increased risk of:

• Adenocarcinoma cancers.
• Basal cell carcinoma.
• Salivary gland cancer, such as adenoid cystic carcinoma.
• Sarcomatoid carcinoma.
• Squamous cell carcinoma.

What is the outlook if I have Brooke-Spiegler syndrome?

It’s common for tumors to reoccur. You may need more surgeries or other treatments to remove any new tumors.

How do I take care of myself with Brooke-Spiegler syndrome?

You can continue to take care of yourself by having frequent skin examinations with a dermatologist. You should have a skin exam at least once a year. Some people with frequently recurring tumors see their provider every three or four months. You can also do a skin self-exam once a month.

Also, make sure to wear sunscreen to help prevent sun-damaged skin and skin cancer.

When should I see my healthcare provider?

You should see your healthcare provider immediately if you notice any tumors that:

• Are painful.
• Bleed.
• Change color.
• Grow quickly.
• Look like a wound (ulcerated).

If you’re planning on becoming pregnant, you may want to talk to your provider about genetic counseling.

How does Brooke-Spiegler syndrome differ from neurofibromatosis?

Both Brooke-Spiegler syndrome and neurofibromatosis are genetic conditions that cause primarily benign tumors. But BSS causes tumors mainly on your skin, while neurofibromatosis causes tumors both on and under your skin — and along your nerves.

There are three types of neurofibromatosis:

• Neurofibromatosis type 1 (NF1), where tumors (neurofibromas) form on or under your skin.
• Neurofibromatosis type 2 (NF2), where tumors (schwannomas) form on the nerves of your brain and spinal cord (peripheral nervous system). These tumors often affect the nerves that control hearing (auditory nerves).
• Schwannomatosis, where schwannomas form on nerves in your peripheral nervous system. These tumors usually don’t affect your auditory nerves.