2026-04-17T11:46:22Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/132982025-10-24T10:36:26Zcom_2072_378070com_2072_378040col_2072_378092

2025-10-24T10:36:26Z urn:hdl:11351/13298 Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker? Santangelo, Andrea Chelleri, Cristina Pasquinucci, Mattia Cappozzo, Francesca Striano, Pasquale Tomasino, Marco Marcadors bioquímics Neurofibromatosi - Diagnòstic Trastorns de la pigmentació Neurofibromatosi - Aspectes genètics DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Nerve Tissue::Nerve Sheath Neoplasms::Neurofibroma::Neurofibromatoses::Neurofibromatosis 1 DISEASES::Neoplasms::Neoplasms::Neoplastic Syndromes, Hereditary::Neurofibromatoses::Neurofibromatosis 1 Other subheadings::Other subheadings::Other subheadings::/genetics ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Early Diagnosis CHEMICALS AND DRUGS::Biological Factors::Biomarkers ENFERMEDADES::enfermedades de la piel y tejido conjuntivo::enfermedades de la piel::trastornos de la pigmentación::manchas café con leche ENFERMEDADES::neoplasias::neoplasias::síndromes neoplásicos hereditarios::neurofibromatosis::neurofibromatosis 1 Otros calificadores::Otros calificadores::Otros calificadores::/genética TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::diagnóstico precoz COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores Café-au-lait macules; Early diagnosis; Neurofibromatosis Máculas café con leche; Diagnóstico precoz; Neurofibromatosis Màcules cafè amb llet; Diagnòstic precoç; Neurofibromatosi 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 patients. Methods: We conducted a retrospective study in patients aged ≥ 4 years presenting with CALMs at our Institution between 2020 and 2021, with a minimum follow-up of four years. We retrospectively collected data on CALMs at birth and other clinical manifestations associated with NF1. Results: Among 208 patients evaluated, including 147 with a confirmed diagnosis of NF1, 110 did not show CALMs at birth, and 98 had at least one. The absence of CALMs at birth did not correlate with a lower likelihood of NF1. In contrast, the CALM number at birth directly correlated with the likelihood of NF1, up to 95% in patients with ≥5 macules. Additionally, a higher number of CALMs correlated with a greater prevalence of plexiform neurofibromas (p < 0.001). Conclusions: Our findings suggest that a higher number of CALMs may indicate a more severe form of NF1, with an increased risk of plexiform neurofibromas. These results emphasize the importance of a comprehensive evaluation of patients with CALMs, especially in case of multiple lesions, aiming at implementing early NF1 diagnosis, follow-up strategies, and overall patient management. This research was supported by PNRR-MUR-M4C2 PE0000006 Research Program “MNESYS”—A multiscale integrated approach to the study of the nervous system in health and disease. 2025-10-24T10:36:26Z 2025-10-24T10:36:26Z 2025-06-17T08:28:59Z 2025-06-17T08:28:59Z 2025-05 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/13298 Cancers;17(9) https://doi.org/10.3390/cancers17091490 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess MDPI Scientia