Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation
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 a...
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| Published in: | Pediatric blood & cancer Vol. 65; no. 9; pp. e27262 - n/a |
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| 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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| AbstractList | 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. 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. 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. |
| Author | Mahjoub, Bahri Boussoffara, Raoudha Kerkeni, Emna Ben Cheikh, Hassen M'rad, Ridha Sakka, Rania Werdani, Amina Sfar, Mohamed Taher |
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| SubjectTerms | 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 |
| Title | Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation |
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