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

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10.1097/MPH.0b013e31829f35e7

Cite this

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title = "Poikiloderma with neutropenia: A case report and review of the literature",

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.",

keywords = "childhood, Clericuzio syndrome, neutropenia, pachyonychia, poikiloderma",

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year = "2014",

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language = "English",

volume = "36",

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AU - Farruggia, Piero

AU - Indaco, Stefania

AU - Dufour, Carlo

AU - Lanza, Tiziana

AU - Mosa, Clara

AU - Macaluso, Alessandra

AU - Milioto, Mirella

AU - D'Angelo, Paolo

AU - Lanciotti, Marina

PY - 2014

Y1 - 2014

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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.

KW - childhood

KW - Clericuzio syndrome

KW - neutropenia

KW - pachyonychia

KW - poikiloderma

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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