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Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation
Author(s) -
Sakka Rania,
Mahjoub Bahri,
Kerkeni Emna,
Werdani Amina,
Boussoffara Raoudha,
Ben Cheikh Hassen,
M'rad Ridha,
Sfar Mohamed Taher
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27262
Subject(s) - poikiloderma , genodermatosis , medicine , neutropenia , dermatology , cyclic neutropenia , concomitant , gene , genetics , chemotherapy , biology
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 C16orf57 gene, 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.