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Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker?

29 Apr 2025

Abstract excerpt

Background: Neurofibromatosis type 1 (NF1) is a rare multisystem disorder characterized by variable expressivity and increased tumor risk. Café-au-lait macules (CALMs) are a hallmark of the disease, often representing one of the earliest clinical manifestations and allowing a clinical NF1 diagnosis if six or more are present. In this study, we aimed to investigate the prognostic value of CALMs at birth in NF1...

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PMID: 40361417
DOI: 10.3390/cancers17091490

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