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

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

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)297-300
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Issue number4
Publication statusPublished - 2014


  • childhood
  • Clericuzio syndrome
  • neutropenia
  • pachyonychia
  • poikiloderma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology


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