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

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 languageEnglish
Pages (from-to)297-300
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Volume36
Issue number4
DOIs
Publication statusPublished - 2014

Keywords

  • childhood
  • Clericuzio syndrome
  • neutropenia
  • pachyonychia
  • poikiloderma

ASJC Scopus subject areas

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

Fingerprint

Dive into the research topics of 'Poikiloderma with neutropenia: A case report and review of the literature'. Together they form a unique fingerprint.

Cite this