A 13-year-old girl comes to the office for a routine well-child visit. She reports skin lesions on her trunk that are not painful or pruritic but have increased in size and number over the past few years. She has no chronic medical problems and takes no medications. Vital signs are within normal limits. Physical examination reveals several large, uniformly pigmented, macular skin lesions. Her eye examination is shown below. This patient is at greatest risk of developing which of the following?

Question

A 13-year-old girl comes to the office for a routine well-child visit.  She reports skin lesions on her trunk that are not painful or pruritic but have increased in size and number over the past few years.  She has no chronic medical problems and takes no medications.  Vital signs are within normal limits.  Physical examination reveals several large, uniformly pigmented, macular skin lesions.  Her eye examination is shown below.  This patient is at greatest risk of developing which of the following?

Quizplus · Accepted Answer

Explanation: 11ec25c8_d6f9_ba66_bc81_d77202deb235_MD0003_00 This young girl with pigmented cutaneous macules and tan-colored lesions of the iris likely has neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant disease caused by mutations in the NF1 gene, which codes for neurofibromin. Patients with NF1 develop characteristic skin and soft-tissue findings, including: Café-au-lait macules - flat, uniformly hyperpigmented skin lesions Clustered freckles - particularly in the axillary and inguinal regions Lisch nodules - raised, tan-colored hamartomas of the iris Starting in adolescence or early adulthood, patients with NF1 also begin to develop neurofibromas, peripheral nerve sheath tumors. These soft, nontender, pedunculated cutaneous lesions usually increase in size and number as patients age. Although mostly benign, some lesions may undergo malignant transformation. As such, all patients with NF1 should receive yearly skin examination. neurofibromas (Choice A) Wilson disease is an inherited copper transport disorder associated with ocular manifestations (eg, Kayser-Fleischer rings) and hepatic failure. NF1 does not increase the risk of acute hepatic disease. Kayser-Fleischer rings (Choice B) Patients with Down syndrome are at increased risk of childhood acute lymphoblastic leukemia and may have Brushfield spots (whitish-grey spots on the periphery of the iris). NF1 is not associated with an increased risk for acute lymphoblastic leukemia. Brushfield spots (Choice D) Renal angiomyolipoma is a benign renal neoplasm associated with tuberous sclerosis, an inherited neurocutaneous disorder that results in multiple benign hamartomas of several organ systems. Skin findings include facial angiofibromas, hypopigmented macules ("ash leaf spots"), and shagreen patches. facial angiofibromas hypopigmented macules ("ash leaf spots") (Choice E) Retinal hemangioblastomas are associated with von Hippel-Lindau syndrome, an inherited disorder that causes benign (eg, hemangioblastoma) and malignant tumors (eg, renal cell carcinoma). Von Hippel-Lindau syndrome is not associated with café-au-lait macules or Lisch nodules. Educational objective: Neurofibromatosis type 1 is a genetic condition associated with café-au-lait macules, axillary and inguinal freckling, Lisch nodules, and neurofibromas (peripheral nerve sheath tumors). References: Café-au-lait macules and neurofibromatosis type 1: a review of the literature. (http://www.ncbi.nlm.nih.gov/pubmed/27212418)

A 13-Year-Old Girl Comes to the Office for a Routine