Café-au-lait macules overlying segmental macular hyperpigmentation in a pediatric patient: an early sign for mosaic neurofibromatosis type 1.
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- Record sourced from PubMed, PMID 33113159.
- Also identified by DOI 10.1111/bjd.19633.
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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> .