Abstract
Poikiloderma with neutropenia (PN, OMIM 604173) is a rare autosomal-recessive genodermatosis. Mutations in the C16orf57 gene have been recently identified as the cause. Here we describe a new case of PN in a white patient, review the literature, and point out the attention on importance of differential diagnosis.
Original language | English |
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Pages (from-to) | 297-300 |
Number of pages | 4 |
Journal | Journal of Pediatric Hematology/Oncology |
Volume | 36 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2014 |
Keywords
- childhood
- Clericuzio syndrome
- neutropenia
- pachyonychia
- poikiloderma
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Oncology
- Hematology