ArticleFrontiers in medicine2021
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.
Article in Frontiers in medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Poikiloderma with neutropenia, Clericuzio-type: Case report of a 7-year-old Syrian child.Medicine · 2026Article
- Pregnancy and Poikiloderma with Neutropenia.AJP reports · 2026Article
- A heterozygous USB1 variant linked to immunodeficiency.Journal of human immunity · 2025Article
- Poikiloderma with neutropenia: a case report.Journal of medical case reports · 2025Article
- Association of neutrophil defects with oral ulcers but undetermined role of neutrophils in recurrent aphthous stomatitis.Heliyon · 2024Review
- Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of
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