A 10-year-old boy is brought by his mother for evaluation of persistent “acne” that started when the boy was a baby. Other than very poor school performance, the child is ostensibly healthy.
Key point: This is a distinctly unique presentation that consists of almost monomorphous, red-brown papules on the face. Biopsy confirmed the papules to be angiofibromas. The skin lesions of adenoma sebaceum and the history of some mental challenge led to the suspected diagnosis of tuberous sclerosis. Genetic testing confirmed this diagnosis.
Treatment: There is no specific therapy. Larger tumors (kidney, brain) are treated as needed. The facial angiofibromas can be destroyed with laser therapy.
Note: Another serious complication of this neurocutaneous genodermatosis is seizure disorder, for which anti-epileptic medication would be given. Genetic counseling is advisable.
