Evidence map›Paper›PMID 42174263›Full record

ArticleEuropean journal of pediatrics2026

Early quantitative progression of café-au-lait macules and diagnostic threshold fulfilment by 24 months in neurofibromatosis type 1.

Alexios Alexopoulos, Dimitrios Ntokos, Louiza Kontara, Michael Miligkos, Maria Dakoutrou, Pavlos Sarafis, Christina Kanaka-Gantenbein, Lamprini Nasi

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Article in European journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Alexios AlexopoulosFirst Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Agia Sophia" Children's Hospital, Athens, Greece.
Dimitrios NtokosDepartment of Surveying and Geoinformatics Engineering, School of Engineering, University of West Attica, Athens, Greece. dimitriosntokos@yahoo.gr.
Louiza KontaraDepartment of Paediatrics, North Middlesex University Hospital, London, UK.
Michael MiligkosSecond Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Agia Sophia" Children's Hospital, Athens, Greece.
Maria DakoutrouFirst Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Agia Sophia" Children's Hospital, Athens, Greece.
Pavlos SarafisDepartment of Nursing, University of Thessaly, Larissa, Greece.
Christina Kanaka-GantenbeinFirst Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Agia Sophia" Children's Hospital, Athens, Greece.
Lamprini NasiFirst Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Agia Sophia" Children's Hospital, Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Café-au-lait macules (CALMs) constitute a major diagnostic criterion for neurofibromatosis type 1 (NF1), yet infants presenting exclusively with CALMs often do not fulfill full diagnostic criteria in early life. This retrospective cohort study aimed to quantify longitudinal changes in CALM burden during the first two years of life in children with NF1 and to assess the relevance of early lesion number for subsequent diagnostic threshold fulfillment. Sixty-three children with NF1 who initially presented with typical multiple CALMs were included. CALM counts were documented at 6, 12, and 24 months using standardized digital photography. CALM counts increased significantly over time (χ

conclusionCALM burden increases markedly during the first two years of life in children with NF1. By 24 months, nearly all children met the CALM-based diagnostic threshold (≥ 6 CALMs), indicating that this period represents a critical window for diagnostic threshold fulfillment. These findings support a time-dependent framework for the evaluation and follow-up of infants presenting with isolated multiple CALMs. WHAT IS KNOWN: • Multiple café-au-lait macules (CALMs) are a major diagnostic criterion for neurofibromatosis type 1 (NF1), with additional features often emerging later in childhood. • Infants presenting exclusively with CALMs frequently require longitudinal follow-up before diagnosis can be established. WHAT IS NEW: • Quantitative data on early longitudinal CALM progression in NF1 are limited. • This study demonstrates a marked increase in CALM burden during the first two years of life, with nearly all children meeting the diagnostic threshold by 24 months.

Indexed as

Cafe-au-Lait SpotsNeurofibromatosis 1Child, PreschoolDisease ProgressionFemaleHumansInfantMaleRetrospective StudiesCafé-au-lait maculesDiagnostic criteriaNeurofibromatosis type 1Phenotype progression

Identifiers

PMID42174263

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.