Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.

Abstract:

:Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions started from the face and spread to the extremities and trunk. Neutropenia was initially periodic and concomitant with infections periods. DNA analysis identified a novel homozygous deletion of a 1-bp (c.161delC, p.P54RfsX60) in the C16orf57gene, presumed to be causative. This report presents the variability of the clinical manifestations and evolution of PN and emphasizes the importance of studying other patients with PN to better delineate mutations profile among populations.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Sakka R,Mahjoub B,Kerkeni E,Werdani A,Boussoffara R,Ben Cheikh H,M'rad R,Sfar MT

doi

10.1002/pbc.27262

subject

Has Abstract

pub_date

2018-09-01 00:00:00

pages

e27262

issue

9

eissn

1545-5009

issn

1545-5017

journal_volume

65

pub_type

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