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conference programme and abstracts book - Sudanjp.org

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Dyskeratosis congenital 111 a Saudi hoy . I. Y. Saadeldin et al.Case reportDyskeratosis congenita (DC) in a Saudi boy: anuncommon genodermatosisI . Y. Saadeldin,Satti A. Satti. Ali S. DammasPcdiatric & Nconatology Department. King Fahad Hospital at Al-Buha. AI-Baha.Saudi Arabia.Abstract A 6-year-old Saudi boy presented to our hospital with severe thrombocytopenia. Thepatient was managed for a long time (6 years) as having chronic idiopathicthrombocytopenic purpura. Luer on features consistent with dyskeratosis congcnnawere recognized by the authors. The main features were: skin manifestations. naildystrophy. alopecia total is, microcephaly <strong>and</strong> mental retardation. The condition wasassociated with acute necrotizing ulcerative gingivitis. At the age of 10, he developedpancytopenia <strong>and</strong> died at the age of 1.+years from acute fulminant sepsis.Key wordsDyskeratosis cungcnita. acute necroti/ing ulcerative gingivitis. pancyiopemu.1-Ilh 47

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