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

• Published in: Pediatric blood & cancer Vol. 65; no. 9; pp. e27262 - n/a
• Main Authors: Sakka, Rania, Mahjoub, Bahri, Kerkeni, Emna, Werdani, Amina, Boussoffara, Raoudha, Ben Cheikh, Hassen, M'rad, Ridha, Sfar, Mohamed Taher
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01-09-2018
• Subjects: Abnormalities, Multiple - genetics; C16orf57 gene; Child; Consanguinity; Craniofacial Abnormalities - genetics; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; Exons - genetics; Extremities; Female; Gene deletion; Genodermatosis; Genotype; Growth Disorders - etiology; Hematology; Humans; Infections; Lesions; Male; Mutation; Neutropenia; Neutropenia - genetics; Oncology; Pediatrics; Phenotype; Phosphoric Diester Hydrolases - genetics; poikiloderma with neutropenia syndrome; Point mutation; Sequence Deletion; Skin Abnormalities - genetics; Skin diseases; Tunisia - epidemiology; Tunisian; Tunisia; poikiloderma with neutropenia syndrome; Tunisian; mutation; C16orf57 gene
• ISSN: 1545-5009; 1545-5017
• DOI: 10.1002/pbc.27262

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.