Literature DB >> 23823120

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

Piero Farruggia1, Stefania Indaco, Carlo Dufour, Tiziana Lanza, Clara Mosa, Alessandra Macaluso, Mirella Milioto, Paolo D'Angelo, Marina Lanciotti.   

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.

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Year:  2014        PMID： 23823120     DOI： 10.1097/MPH.0b013e31829f35e7

Source DB:  PubMed          Journal:  J Pediatr Hematol Oncol        ISSN： 1077-4114            Impact factor:   1.289


  5 in total

1.  Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.

Authors:  Prakash Patil; Tamayo Uechi; Naoya Kenmochi
Journal:  RNA Biol       Date:  2015       Impact factor: 4.652

2.  Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Authors:  Aude-Annick Suter; Peter Itin; Karl Heinimann; Munaza Ahmed; Tazeen Ashraf; Helen Fryssira; Usha Kini; Pablo Lapunzina; Peter Miny; Mette Sommerlund; Mohnish Suri; Signe Vaeth; Pradeep Vasudevan; Sabina Gallati
Journal:  Mol Genet Genomic Med       Date:  2016-02-24       Impact factor: 2.183

3.  Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.

Authors:  Malina Yamashita Peterson; Brooke Hanson; Ingrid Polcari
Journal:  Pediatr Dermatol       Date:  2022-05-06       Impact factor: 1.997

4.  Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.

Authors:  Vincenzo Piccolo; Teresa Russo; Daniela Di Pinto; Elvira Pota; Martina Di Martino; Giulio Piluso; Andrea Ronchi; Giuseppe Argenziano; Eugenia Veronica Di Brizzi; Claudia Santoro
Journal:  Front Med (Lausanne)       Date:  2021-06-10

5.  A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.

Authors:  Elisa A Colombo; Silvia Carra; Laura Fontana; Erica Bresciani; Franco Cotelli; Lidia Larizza
Journal:  Sci Rep       Date:  2015-11-02       Impact factor: 4.379
  5 in total

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