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Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.
Sakka, Rania; Mahjoub, Bahri; Kerkeni, Emna; Werdani, Amina; Boussoffara, Raoudha; Ben Cheikh, Hassen; M'rad, Ridha; Sfar, Mohamed Taher.
Affiliation
  • Sakka R; Laboratory of Histology and Cytogenetics (Research Unit of Genetic, Genotoxicity and Childhood Diseases UR12ES10), Faculty of Medicine, University of Monastir, Street Avicenne, 5019, Monastir, Tunisia.
  • Mahjoub B; Department of Pediatrics, Tahar Sfar University Hospital, Mahdia, Tunisia.
  • Kerkeni E; Laboratory of Histology and Cytogenetics (Research Unit of Genetic, Genotoxicity and Childhood Diseases UR12ES10), Faculty of Medicine, University of Monastir, Street Avicenne, 5019, Monastir, Tunisia.
  • Werdani A; Department of Pediatrics, Tahar Sfar University Hospital, Mahdia, Tunisia.
  • Boussoffara R; Department of Pediatrics, Tahar Sfar University Hospital, Mahdia, Tunisia.
  • Ben Cheikh H; Laboratory of Histology and Cytogenetics (Research Unit of Genetic, Genotoxicity and Childhood Diseases UR12ES10), Faculty of Medicine, University of Monastir, Street Avicenne, 5019, Monastir, Tunisia.
  • M'rad R; Laboratory of Human Genetics, Doctoral School of Science and Biotechnology, Faculty of Medicine of Tunis, University of Tunis El Manar, 1007 Tunis, Tunisia.
  • Sfar MT; Department of Pediatrics, Tahar Sfar University Hospital, Mahdia, Tunisia.
Pediatr Blood Cancer ; 65(9): e27262, 2018 09.
Article in En | MEDLINE | ID: mdl-29797650
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.
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Full text: 1 Database: MEDLINE Main subject: Skin Abnormalities / Phosphoric Diester Hydrolases / Neutropenia Type of study: Etiology_studies / Prognostic_studies Limits: Child / Female / Humans / Male Country/Region as subject: Africa Language: En Year: 2018 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Skin Abnormalities / Phosphoric Diester Hydrolases / Neutropenia Type of study: Etiology_studies / Prognostic_studies Limits: Child / Female / Humans / Male Country/Region as subject: Africa Language: En Year: 2018 Type: Article