Dyskeratosis congenita (DC) in a Saudi boy: an uncommon genodermatosis

A 6-year-old Saudi boy presented to our hospital with severe thrombocytopenia. The pat ient was managed for a long time (6 years) as having chronic idiopathic thrombocytopenic purpura. Later on features consistent with dyskeratosis congenita were recognized by the authors. The main features were: skin manifestations, nail dystrophy, alopecia totalis, microcephaly and mental retardation. The condition was associated with acute necrotizing ulcerative gingivitis. At the age of 10, he developed pancytopenia and died at the age of 14 years from acute fulminant sepsis.