Skip Navigation LinksHome > May 2014 - Volume 36 - Issue 4 > Poikiloderma With Neutropenia: A Case Report and Review of...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e31829f35e7
Original Articles

Poikiloderma With Neutropenia: A Case Report and Review of the Literature

Farruggia, Piero MD; Indaco, Stefania PhD; Dufour, Carlo MD; Lanza, Tiziana PhD; Mosa, Clara MD; Macaluso, Alessandra MD; Milioto, Mirella MD; D’Angelo, Paolo MD; Lanciotti, Marina PhD

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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.

Copyright © 2014 Wolters Kluwer Health, Inc. All rights reserved.


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