Dyskeratosis congenita (DC) in a Saudi boy: an uncommon genodermatosis
Keywords:
Dyskeratosis congenita, acute necrotizing ulcerative gingivitis, pancytopenia.Abstract
A 6-year-old Saudi boy presented to our hospital with severe thrombocytopenia. Thepat ient was managed for a long time (6 years) as having chronic idiopathicthrombocytopenic purpura. Later on features consistent with dyskeratosis congenitawere recognized by the authors. The main features were: skin manifestations, naildystrophy, alopecia totalis, microcephaly and mental retardation. The condition wasassociated with acute necrotizing ulcerative gingivitis. At the age of 10, he developedpancytopenia and died at the age of 14 years from acute fulminant sepsis.References
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