Evidence map›Paper›PMID 42571309›Full record

ArticleQatar medical journal2026

Lipoid proteinosis in a 36-year-old woman: An index case from Qatar.

Engy Abdelhamed, Shajitha Thekke Veettil

Abstract readCase Reports
In one paragraph

Article in Qatar medical journal, 2026. 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

2 authors.

Engy AbdelhamedDirectorate of Operations, Airport Health Centre, Primary Health Care Corporation, Doha, Qatar.
Shajitha Thekke VeettilDirectorate of Clinical Affairs, Department of Clinical Research, Primary Health Care Corporation, Doha, Qatar.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 ( Case presentation: A 36-year-old woman presented with bilateral pruritic eyelid papules and long-standing hoarseness. Clinical examination revealed moniliform blepharosis, oral cobblestone plaques, and a broad tongue. Neuroimaging showed symmetrical calcifications in the medial temporal lobes. Fiberoptic laryngoscopy demonstrated an infantile larynx, an uncommon finding in LP. A positive family history and parental consanguinity supported the diagnosis. The patient declined genetic testing and neurological treatment despite experiencing a seizure episode and mood disturbances. Topical and systemic corticosteroids were ineffective. She continues ophthalmology follow-up but has discontinued dermatological and genetic care. Conclusion: This case highlights the classic features of LP, a potentially novel laryngeal finding, and emphasizes the need for early diagnosis and multidisciplinary management to address neurological and psychosocial complications.

Indexed as

blepharosisextracellular matrix protein 1larynxLipoid proteinosisQatartemporal lobe

Identifiers

PMID42571309
PMCPMC13451945

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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.