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Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs
Vincenzo Piccolo1, Teresa Russo1, Daniela Di Pinto2
1Dermatology Unit, University of Campania "Luigi Vanvitelli", Naples, Italy.
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 USB1; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings.
Insights
Poikiloderma with neutropenia (PN) is a rare genetic disorder causing skin issues and low white blood cell counts. This case highlights a new mutation in the USB1 gene causing PN with early-onset poikiloderma and mastocytosis.
Area of Science:
- Genetics
- Dermatology
- Hematology
Background:
- Poikiloderma with neutropenia (PN) is a rare genetic disorder.
- Characterized by poikiloderma and congenital neutropenia, leading to recurrent infections and increased cancer risk.
Observation:
- Presents a case of PN in a child of Serbian descent.
- The patient had early-onset poikiloderma (1 year) and cutaneous mastocytosis.
- Identified a homozygous mutation in the USB1 gene (NM_024598.3:c.243G>A).
Findings:
- The identified mutation in USB1 causes poikiloderma with neutropenia.
- Early-onset poikiloderma and cutaneous mastocytosis were observed.
- Literature review on dermatological findings in PN.
Implications:
- Expands understanding of PN genetic basis.
- Highlights the association between PN, USB1 mutations, and dermatological manifestations.
- Informs diagnosis and management of rare genetic skin and blood disorders.
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