Review Question - QID 213423

This patient likely has neurofibromatosis type 1 (NF1) as demonstrated by the multiple café-au-lait spots. Patients with the disease may develop Lisch nodules, or tan-colored hamartomas of the iris, during adolescence.

NF1 is the most common type of neurofibromatosis. It is an autosomal dominant genetic disorder involving mutations of the NF1 tumor suppressor gene on chromosome 17. Patients usually present with multiple café-au-lait spots during the first year after birth that increase in number. Although 1 or 2 spots may be normal, the presence of 6 or more spots is highly suggestive of NF1. Other findings of NF1 include axillary freckling, Lisch nodules, neurofibromas, optic gliomas, and bone abnormalities. Diagnosis is based on the presence of characteristic clinical features; genetic testing is not required. Management involves treating individual manifestations of the disease as they arise.

Figure/Illustration A is a clinical image of multiple flat, hyperpigmented macules (arrows) characteristic of NF1.

Incorrect Answers:
Answer 1: Cavernous hemangiomas of the skin are a common manifestation of von Hippel Lindau disease, which presents with hemangioblastomas, bilateral renal cell carcinomas, and pheochromocytomas.

Answer 2: Opacified lens within the eye describes cataracts, which occur early in patients with neurofibromatosis type II. Other manifestations include bilateral acoustic schwannomas, meningiomas, and ependymomas.

Answer 3: Port-wine stain of the face is a classic finding of Sturge-Weber syndrome, which presents with epilepsy, intellectual disability, and episcleral hemangioma.

Answer 4: Shagreen patches are connective tissue hamartomas with a leathery texture that are often associated with tuberous sclerosis.

Bullet Summary:
Neurofibromatosis type I presents with multiple café-au-lait spots, axillary freckling, optic gliomas, Lisch nodules, and neurofibromas.