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Poikiloderma with neutropenia: a case report.

Jebran Chekr¹, Jan Andraws², Jubran Elias¹

¹Faculty of Medicine, Damascus University, Damascus, Syria.

Journal of Medical Case Reports

|January 14, 2025

Summary

Poikiloderma with neutropenia is a rare genetic disorder. This case highlights the diagnostic complexity and importance of early identification of complications in Syrian patients.

Keywords:

C16orf57 Gene Mutation Poikiloderma with neutropenia Syria Usb1

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Area of Science:

Genetics
Dermatology
Pediatrics

Background:

Poikiloderma with neutropenia is a rare genetic disorder.
Characterized by poikiloderma and congenital chronic neutropenia.
Mutations in the C16orf57 gene (encoding USB1 protein) cause the disorder.

Purpose of the Study:

To evaluate poikiloderma with neutropenia in differential diagnosis.
To emphasize the importance of follow-up for early complication identification.

Main Methods:

Case presentation of an 11-year-old Syrian male.
Clinical examinations, laboratory tests, radiographic imaging.
Genetic analyses were definitive for diagnosis.

Main Results:

First documented case of poikiloderma with neutropenia in Syria.
Patient presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia.

Conclusions:

Poikiloderma with neutropenia presents diagnostic challenges.
Early identification and follow-up are crucial for managing potential complications.