AUTHOR=Piccolo Vincenzo , Russo Teresa , Di Pinto Daniela , Pota Elvira , Di Martino Martina , Piluso Giulio , Ronchi Andrea , Argenziano Giuseppe , Di Brizzi Eugenia Veronica , Santoro Claudia 

TITLE=Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

JOURNAL=Frontiers in Medicine

VOLUME=Volume 8 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2021.680363

DOI=10.3389/fmed.2021.680363

ISSN=2296-858X

ABSTRACT=Poikiloderma with neutropenia (PN) represents a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk to develop bronchiectasis. Patients are also prone to develop hematological and skin cancers.
Herein we present a patient, the only one child of apparently unrelated Serbian parents, with PN due to a homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1, who had an early onset of poikiloderma (1 year of age) associated to cutaneous mastocytosis.  
We also provide a review the literature about this uncommon condition with a focus on dermatological findings.