Evidence map›Paper›PMID 41409528›Full record

ArticleSkin appendage disorders2026

Case Report of Hair Abnormalities in Dyskeratosis Congenita: A Trichoscopic and Microscopic Analysis.

Mariem Tabka, Asmahane Souissi, Feriel Amri, Malek Mrad, Mourad Mokni

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Article in Skin appendage disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

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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

5 authors.

Mariem TabkaDepartment of Dermatology, Research Unit "Infections and Public Health" LR18SP01, La Rabta University Hospital, Tunis, Tunisia.
Asmahane SouissiDepartment of Dermatology, Research Unit "Infections and Public Health" LR18SP01, La Rabta University Hospital, Tunis, Tunisia.
Feriel AmriDepartment of Dermatology, Research Unit "Infections and Public Health" LR18SP01, La Rabta University Hospital, Tunis, Tunisia.
Malek MradDepartment of Dermatology, Research Unit "Infections and Public Health" LR18SP01, La Rabta University Hospital, Tunis, Tunisia.
Mourad MokniDepartment of Dermatology, Research Unit "Infections and Public Health" LR18SP01, La Rabta University Hospital, Tunis, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Dyskeratosis congenita (DC) is a rare inherited telomere biology disorder characterized by mucocutaneous and systemic manifestations. There are limited descriptions of hair involvement. Case Presentation: We present the case of a 19-year-old male from a consanguineous family, diagnosed with DC, who exhibited classical dermatological and hematological features, as well as distinctive trichoscopic findings, including scattered irregular black dots, pigtail hairs, S-shaped and zigzag hairs, and microscopic evidence of cuticular abnormalities, including ruffled surfaces, flat fractures, and trichoptilosis. Conclusion: This case highlights the under-recognized spectrum of hair pathology in DC, supporting the role of telomere dysfunction in impairing hair follicle homeostasis and structural integrity.

Indexed as

Case reportDyskeratosis congenitaHair diseaseTelomeraseTrichoscopy

Identifiers

PMID41409528
PMCPMC12707919

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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.