Evidence map›Paper›PMID 41226457›Full record

ArticleInternational journal of molecular sciences2025

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent

Sara Vanegas, Diana Ramírez-Montaño, Alejandro Padilla-Guzmán, Harry Pachajoa

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Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Sara VanegasGreenskin Centro Dermatológico, Cali 760032, Colombia.ORCID 0000-0003-2964-3192
Diana Ramírez-MontañoDepartamento de Morfología, Universidad del Valle, Cali 760032, Colombia.
Alejandro Padilla-GuzmánHealth Sciences Faculty, Universidad Icesi, Cali 760031, Colombia.
Harry PachajoaHealth Sciences Faculty, Universidad Icesi, Cali 760031, Colombia.ORCID 0000-0003-2672-0439

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The potential association of congenital dermal melanocytosis as a marker for lysosomal storage disease in infancy is rarely studied. A few cases of congenital dermal melanocytosis in association with lysosomal storage diseases have been reported. GM1 gangliosidosis type 1 and Hurler syndrome are the most common underlying lysosomal disorders associated with dermal melanocytosis. We present two non-relative patients with Hurler's Syndrome who exhibited cutaneous manifestations. Both cases had a recurrent genetic variant c.1045G>T (p.Asp349Tyr) in the

Indexed as

IduronidaseMucopolysaccharidosis IAllelesColombiaFemaleHumansInfantInfant, NewbornMaleMutationIDUA protein, humanIduronidasealpha-L-iduronidaseHurler syndromeMongolian spotMucopolysaccharidoses

Identifiers

PMID41226457
PMCPMC12609784

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.