ArticleJournal of medical case reports2025
Poikiloderma with neutropenia: a case report.
Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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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.
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.
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Who cites it
3 citing papers in PubMed.
- Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders.Medicina (Kaunas, Lithuania) · 2026Review
- Poikiloderma with neutropenia, Clericuzio-type: Case report of a 7-year-old Syrian child.Medicine · 2026Article
- Pregnancy and Poikiloderma with Neutropenia.AJP reports · 2026Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPoikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia. CASE PRESENTATION: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria. Clinical examinations, laboratory tests, radiographic imaging, and genetic analyses have been conducted, with the latter being essential and definitive for diagnosis.
conclusionThis study aimed to evaluate whether poikiloderma with neutropenia should be considered for differential diagnosis because of its diagnostic complexity, emphasizing the importance of follow-up for the early identification of potential complications.
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Registered trials
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