Café-au-lait macules overlying segmental macular hyperpigmentation in a pediatric patient: an early sign for mosaic neurofibromatosis type 1.

Zhang, J; Qin, W; Hua, S; Li, M; Tang, Y; Yao, Z · Br J Dermatol · 2020

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Abstract

The presentation of multiple café-au-lait macules (CALMs) in children is a common reason for referral to a dermatologist. Segmental CALMs, a subtype of CALMs, is usually limited to a specific part of the body. Mosaic neurofibromatosis type 1 (NF1; OMIM 162200) is a common congenital disorder associated with segmental CALMs with an incidence of about 1 case/40000 patients, which is lower than the prevalence of patients with germline NF1 mutations<sup>1,2</sup> .