An otherwise healthy 15-year-old boy complains of an increasing number of bumps on his face over the last 3 years.
An otherwise healthy 15-year-old boy complains of an increasing number of little bumps on his face over the last 3 years. His mom has spent hundreds of dollars on ineffective over-the-counter and prescription acne products. What can an adolescent boy and his mother do?
Clinically, angiofibromas are characterized by 2-mm to 4-mm, round, well-demarcated domed papules with a reddish-brown color that gradually increase in number and size. Although they can appear any time during childhood, they tend to blossom shortly before and during puberty. Although benign, they may become a nuisance because of bleeding and secondary infection after minor trauma.1 Histologic findings show a proliferation of fibroblasts and blood vessels, a fibrotic stroma with collagen, and occasionally a sparse inflammatory cell infiltrate of scattered lymphocytes.3
At initial presentation, angiofibromas may be mistaken for inflammatory acne papules. However, careful observation usually shows no evidence of inflammation, and open and closed comedones are also not present. Even when the correct diagnosis is made, a number of systemic conditions must be considered. The 2 genodermatoses most commonly associated with angiofibromas are TS and multiple endocrine neoplasia type 1 (MEN 1).2,4
Tuberous sclerosis is an autosomal dominant disorder associated with mutations in the TSC1 (9q34) or TSC2 (16p13) gene and characterized by multisystem hamartomas, including the development of cerebral cortical tubers that can lead to seizures and neurologic impairment.2
Multiple endocrine neoplasia 1 is associated with parathyroid, pituitary, and pancreatic endocrine tumors as well as some skin lesions.4 There are also isolated cases of facial angiofibromas in the context of Birt-Hogg-Dubé and neurofibromatosis.5
Diagnostic evaluation for TS includes careful physical examination of the patient and family members to look for shagreen plaques (collagenomas) and hypopigmented macules.5 When there is no evidence of TS, patients-especially those with a family history of MEN 1 or neuroendocrine tumors-should be considered for screening for MEN 1.4