Poikiloderma with neutropenia: a case report and review of the literature

J Pediatr Hematol Oncol. 2014 May;36(4):297-300. doi: 10.1097/MPH.0b013e31829f35e7.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Neutropenia / complications*
  • Neutropenia / diagnosis*
  • Rothmund-Thomson Syndrome / complications*
  • Rothmund-Thomson Syndrome / diagnosis*