Skip Navigation LinksHome > May 2014 - Volume 36 - Issue 4 > Poikiloderma With Neutropenia: A Case Report and Review of t...
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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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.

Copyright © 2013 by Lippincott Williams & Wilkins

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