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Brooke-Spiegler Syndrome

Brooke-Spiegler Syndrome



Overview

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.

Symptoms

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.

Causes

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.

Diagnosis

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.

Treatment

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.

Type of Doctor Department :  A dermatologist

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