2026-04-17T04:15:12Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/132982025-10-24T10:36:26Zcom_2072_378070com_2072_378040col_2072_378092
RECERCAT
author
Santangelo, Andrea
author
Chelleri, Cristina
author
Pasquinucci, Mattia
author
Cappozzo, Francesca
author
Striano, Pasquale
author
Tomasino, Marco
2025-10-24T10:36:26Z
2025-10-24T10:36:26Z
2025-06-17T08:28:59Z2025-06-17T08:28:59Z2025-05
http://hdl.handle.net/11351/13298
Café-au-lait macules; Early diagnosis; NeurofibromatosisMáculas café con leche; Diagnóstico precoz; NeurofibromatosisMàcules cafè amb llet; Diagnòstic precoç; NeurofibromatosiBackground: 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.
Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
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 in Neurofibromatosis Type 1: Birthmark or Biomarker?
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion