Snapshot A 3-year-old female presents with an abnormal "dark spot" in certain parts of the body. The mother reports that these spots began to develop sometime during the last year, but have progressively worsened. The mother also states that her husband has similar skin findings and a history of seizures. On exam, 7-8 uniformly hyperpigmented macules are noted on the chest, back, and buttock. There is freckling in the axilla and inguinal region. Introduction Neurofibromatosis type I (von Recklinghausen disease) login to view 6 more bullets Epidemiology login to view 3 more bullets Presentation Physical exam login to view 9 more bullets Evaluation Clinical diagnosis login to view 1 more bullet Genetic analysis login to view 1 more bullet Differential Diagnosis Neurofibromatosis type II McCune-Albright syndrome MEN 2b Familial multiple café-au-lait spots Treatment Dependent on clinical manifestations login to view 1 more bullet Annual history and physical for children login to view 1 more bullet Prognosis, Prevention, and Complications Prognosis login to view 1 more bullet Prevention login to view 1 more bullet Complications login to view 1 more bullet