Café au Lait Macules and Associated Genetic Syndromes

Abstract

Café au lait macules (CALMs) are a common, isolated dermatologic finding in the general population. But when do these irregularly shaped, jagged-edged, flat, hyperpigmented birthmarks suggest something that may warrant referral? Most pediatric providers are familiar with the association of CALMs and neurofibromatosis type 1. There are, however, other genetic conditions associated with these seemingly benign skin spots. This article provides an overview of CALMs, followed by a summary of several conditions associated with CALMs ranging from the most common (neurofibromatosis type 1) to rare, ring chromosome syndromes. It reviews the associated gene(s), pattern of inheritance, incidence, presenting symptoms, diagnosis, and management for these genetic conditions.

Keywords: Café au lait macule; Legius syndrome; McCune-Albright syndrome; Noonan syndrome with multiple lentigines; neurofibromatosis type 1.