PE2889 Tuberous Sclerosis Complex and Your Child's Skin

Tuberous Sclerosis Complex and Your Child’s Skin

Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple organ systems. This disorder is usually diagnosed in infants and children based on skin abnormalities, seizures and overgrowth of organs.

How does tuberous Tuberous sclerosis complex (TSC) is a genetic disorder that affects many sclerosis complex different parts of the body, including the skin. People with TSC can have many different kinds of skin abnormalities. Most of these abnormalities do not cause affect the skin? problems and some help doctors diagnose TSC. When skin abnormalities start causing problems, such as bleeding or disfigurement, treatment is needed. For information about how TSC affects other parts of the body, read our handout, “Tuberous Sclerosis Complex” seattlechildrens.org/pdf/PE2794.pdf

What kind of skin The most common skin abnormalities include: problems does TSC • White patches - hypomelanotic (hy pome lan ot ic) macules (also called ash leaf spots): cause? These are white or lighter patches of skin that may happen anywhere on the body. They are caused by a lack of skin pigment (melanin)-the substance that gives skin its color. Sometimes these light spots appear very small and confetti-like.

• Red or bumpy acne - facial angiofibromas (an gio-fi bro mas): These are reddish spots or bumps that appear on the face that look like acne. They are made of blood vessels and fibrous tissue.

• Raised discolored areas on the forehead - fibrous cephalic (se fael ik) plaques: They are common and unique to TSC and help doctors diagnose the disorder.

• Thick, leathery patches - Shagreen patches: These are areas of thick, leathery, pebbly skin. They are usually found on the lower back or nape of the neck.

• Fleshy lumps under the nails - ungual fibromas: These are small fleshy tumors that grow around and under the fingernails and toenails. They may need to be surgically removed if they enlarge or cause bleeding. These usually show up when a person is 20 to 50 years old.

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To Learn More Free Interpreter Services • Dermatology • In the hospital, ask your nurse. 206-987-2158 • From outside the hospital, call the • Neurology toll-free Family Interpreting Line, 206-987-2078 1-866-583-1527. Tell the interpreter • Ask your child’s healthcare provider the name or extension you need. • seattlechildrens.org

Tuberous Sclerosis Complex and Your Child’s Skin

Are there other skin People with TSC may also have skin abnormalities that are not specific to features common with TSC. These include: TSC? • Skin tags: These are little pieces of extra skin that usually happen across the back of the neck and shoulders. • Café au lait spots: These are flat brown marks. • Poliosis: These are a tuft or patch of white hair that usually appears on the scalp or eyebrows. Dental enamel pitting and oral fibromas People with TSC may also develop small holes in the teeth (called dental enamel pitting) and small growths in and around the mouth (called oral fibromas). While these are dental problems, a dermatologist will evaluate for these as part of their evaluation for TSC.

How are these skin There is no known cure for TSC. Treatment of skin abnormalities may abnormalities include skin protection, medicine, surgery or laser therapy. treated?

Skin protection Protect the skin from the sun. Use a broad-spectrum UVA/UVB sunblock of SPF 30 to 50. Apply to skin at least every 2 hours during sun exposure. If your child limits skin damage from the sun, they may prevent or slow the development of facial angiofibromas (red bumps). You can read more about sun protection in our handout “Sun Safety” seattlechildrens.org/pdf/PE597.pdf .

Medicine Your neurologist may prescribe Sirolimus. This is a medicine taken by mouth (oral) for treatment of problems associated with TSC. A version of this medicine that goes on the skin (topical) may be recommended to help treat some or your child’s skin problems associated with TSC. It can be especially effective when treatment is started early.

Surgery and laser If your child has ungual fibromas or other skin abnormalities that have therapy grown bigger, become painful or cause bleeding, they may need surgery. Laser treatment may be used for angiofibromas.

Seattle Children’s offers interpreter services for Deaf, hard of hearing or non-English speaking patients, family members and legal representatives free of charge. Seattle Children’s will make this information available in alternate formats upon request. Call the 5/21 Family Resource Center at 206-987-2201. This handout has been reviewed by clinical staff at Seattle Children’s. However, your child’s PE2889 needs are unique. Before you act or rely upon this information, please talk with your child’s healthcare provider.

Patient and Family Education | Dermatology 2 of 2