Updated Approach to Patients with Multiple Café au Lait Macules

Abstract

Café au lait macules (CALMs) are a normal and frequent finding in the general population, but multiple CALMs raise the possibility of an underlying neurocutaneous disease like neurofibromatosis type I. Certain features of CALMs like number, size, shape, and distribution are important in identifying children at higher risk of having a neurocutaneous disorder or another genetic disorder. Genetic testing can be especially helpful in establishing a diagnosis in atypical presentations, or when the child is young and other features of the disease aside from CALMs have not manifested.

Keywords: CALMs; Cafe au lait macules; Genodermatoses; Hyperpigmentation; Legius; NF1; Neurocutaneous disorders; SPRED1.