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

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.

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Publication Details

Journal
Cancers
Published
2025-04-29
DOI
https://doi.org/10.3390/cancers17091490
Citations
2
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
Field-Weighted Citation Impact
2.78
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article

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

Mattia Pasquinucci, Marcello Scala, Maria Cristina Diana, Cristina Chelleri et al.
2 citations
Cancers
Neurofibromatosis and Schwannoma Cases
2.78
article

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

Mattia Pasquinucci, Marcello Scala, Maria Cristina Diana, Cristina Chelleri, Pasquale Striano, Marco Tomasino, Andrea Santangelo, Francesca Cappozzo
article en
2 citations

Abstract

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.

CancersVol. 17(9)
Universitat Autònoma de Barcelona (ES), Istituto Giannina Gaslini (IT), Vall d'Hebron Hospital Universitari (ES), Istituti di Ricovero e Cura a Carattere Scientifico (IT), University of Genoa (IT)
Openalex Percentile: Top 11%
Neurofibromatosis and Schwannoma Cases
2.78
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Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker? — Mattia Pasquinucci, Marcello Scala, et al. · Cancers (2025) | TGRS Research Map | TGRS