Dyskeratosis congenita: report of two cases with distinct clinical presentations.
Dyskeratosis congenita (DC) is a rare, inheritable disorder characterized by a triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Inheritance is mainly X-linked recessive; however, autosomal dominant and recessive forms have also been reported. Here, we report two cases of DC with distinct clinical presentations together with different genetic screening results, which emphasize the quite heterogeneous clinical as well as genetic nature of DC.
Demirgüneş
Fatma Elif
FE
Department of Dermatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Elçin
Gonca
G
Sahin
Sedef
S
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male