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Angiofibromas: A Hallmark Manifestation of Tuberous Sclerosis

Angiofibromas: A Hallmark Manifestation of Tuberous Sclerosis

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An 8-year-old boy presents with multiple, asymptomatic red to brown, variably sized papules on the face. He is taking several antiepileptic drugs and is doing poorly in school.

Key point: These facial lesions are most typical for adenoma sebaceum, or facial angiofibromas. This is a hallmark manifestation of the neurocutaneous syndrome tuberous sclerosis. Other prominent skin findings may include hypopigmented patches (“ash leaf macules”), thickened plaques on the back (“shagreen patches”), and firm papulonodules under and around fingernails and toenails (periungual fibromas). Patients are genetically predisposed to neoplasms of the brain, kidney, lung, and heart.

Treatment: Since the manifestations vary widely among patients, symptomatic problems are dealt with as medically appropriate.

Note: The prognosis for individuals with this disorder depends on the severity of symptoms, which range from mild skin abnormalities to varying degrees of learning disabilities, epilepsy and severe mental retardation, renal or cardiac failure, and hydrocephalus. Individuals with mild symptoms generally do well, while those with the more severe form have serious disabilities.

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