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

doi:10.1097/MPH.0b013e31829f35e7

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	297-300
Number of pages	4
Journal	Journal of Pediatric Hematology/Oncology
Volume	36
Issue number	4
DOIs	https://doi.org/10.1097/MPH.0b013e31829f35e7
Publication status	Published - 2014

Keywords

childhood
Clericuzio syndrome
neutropenia
pachyonychia
poikiloderma

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Oncology
Hematology

Access to Document

10.1097/MPH.0b013e31829f35e7

Cite this

Poikiloderma with neutropenia : A case report and review of the literature. / Farruggia, Piero; Indaco, Stefania; Dufour, Carlo ; Lanza, Tiziana; Mosa, Clara; Macaluso, Alessandra; Milioto, Mirella; D'Angelo, Paolo; Lanciotti, Marina.

In: Journal of Pediatric Hematology/Oncology, Vol. 36, No. 4, 2014, p. 297-300.

Research output: Contribution to journal › Article › peer-review

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AU - Mosa, Clara

AU - Macaluso, Alessandra

AU - Milioto, Mirella

AU - D'Angelo, Paolo

AU - Lanciotti, Marina

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AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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