Café au Lait Macules and Associated Genetic Syndromes.

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. Copyright © 2019 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.

Citation

Sharon Anderson. Café au Lait Macules and Associated Genetic Syndromes. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners. 2020 Jan - Feb;34(1):71-81

Mesh Tags

PMID: 31831114

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