A 19-year-old woman comes to the office for evaluation of chronic acne. Over the last 6 months, the patient has tried several over-the-counter acne treatments without improvement. She has a history of attention-deficit hyperactivity disorder and mild intellectual disability. Her mother has a seizure disorder, and her maternal grandmother died of kidney failure. Vital signs are within normal limits. Facial examination findings are shown below. There are several elliptical, hypopigmented macules on the trunk. Which of the following is the most likely underlying cause of this patient's condition?

Question

A 19-year-old woman comes to the office for evaluation of chronic acne.  Over the last 6 months, the patient has tried several over-the-counter acne treatments without improvement.  She has a history of attention-deficit hyperactivity disorder and mild intellectual disability.  Her mother has a seizure disorder, and her maternal grandmother died of kidney failure.  Vital signs are within normal limits.  Facial examination findings are shown below.  There are several elliptical, hypopigmented macules on the trunk.  Which of the following is the most likely underlying cause of this patient's condition?

Quizplus · Accepted Answer

11ec25c8_d393_84f5_bc81_c7418a67e347_MD0003_00 This patient has facial angiofibromas characteristic of tuberous sclerosis (TS), a neurocutaneous disorder in which an autosomal dominant or de novo mutation in the TS complex gene results in benign tumors of the skin, brain, and other organs. Features vary in severity and can present from infancy through adulthood. Skin lesions occur in most patients with TS and may be the presenting sign. Angiofibromas are red or flesh-colored, fibrous papules that are most commonly located in the malar region and often increase in number during childhood. They may be mistaken for acne that is unresponsive to typical treatments, as seen here. Other common skin findings include hypopigmented macules (ash-leaf spots), as seen in this patient, and shagreen patches (thickened, leathery skin). Angiofibromas ash-leaf spots In patients with characteristic dermatologic findings of TS, a brain MRI is required to evaluate for associated CNS lesions (eg, hamartomas). Brain hamartomas can cause seizures (as seen in this patient's mother) or manifest more subtly with behavioral/cognitive disorders (eg, attention-deficit hyperactivity disorder, intellectual disability), as seen in this patient. Diagnosis can be confirmed by genetic testing. (Choice A) Late-onset, or nonclassic, congenital adrenal hyperplasia (partial 21-hydroxylase deficiency) can present with hyperandrogenism (eg, severe acne, hirsutism) in adolescent girls. This patient's skin examination shows angiofibromas rather than acne. (Choice B) Fabry disease, a lysosomal storage disorder due to alpha-galactosidase A deficiency, typically causes neuropathic pain and glomerular disease. Associated skin findings include telangiectasias and angiokeratomas, which are not seen here. angiokeratomas (Choice C) Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder characterized by axillary freckling, hyperpigmented café-au-lait macules (blue arrow), and neurofibromas (black arrow). This patient's hypopigmented macules and facial angiofibromas make TS more likely. café-au-lait macules (blue arrow), and neurofibromas (black arrow) (Choice E) Von Hippel-Lindau syndrome is an autosomal dominant disease that causes various tumors, such as hemangioblastoma, pheochromocytoma, renal cell carcinoma, and pancreatic tumors. Cutaneous findings are not associated with von Hippel-Lindau syndrome. Educational objective: Tuberous sclerosis is an autosomal dominant neurocutaneous disorder characterized by typical skin (eg, angiofibromas, ash-leaf spots) and neurologic (eg, seizures, behavioral/cognitive disorders) findings. References: Tuberous sclerosis. (http://www.ncbi.nlm.nih.gov/pubmed/30860727) Cutaneous angiofibroma. (http://www.ncbi.nlm.nih.gov/pubmed/29494077)

A 19-Year-Old Woman Comes to the Office for Evaluation of Chronic