title: Dyskeratosis congenita: unusual presenting features within a kindred.
abstract: We report on a family in which one member is affected by dyskeratosis congenita (DC), who had two cousins who died at 44 months and 36 months, respectively, with aplastic anemia and neurological abnormalities. The patient affected by DC presented with bone marrow hypoplasia at age 4; DC was diagnosed at age 6. In DC the marrow abnormalities rarely appear before the skin manifestations. The observation of this kindred poses the question whether an extremely early onset with a rapidly fatal course before the appearance of skin abnormalities is possible. We believe this report to be important for the differential diagnosis of DC and other forms of congenital aplastic anemia.
authors.affiliation: Divisione di Pediatria, Ospedali Galliera, Genova, Italy.
authors.forename: G L
authors.initials: GL
authors.lastname: Forni
authors.forename: C
authors.initials: C
authors.lastname: Melevendi
authors.forename: S
authors.initials: S
authors.lastname: Jappelli
authors.forename: A
authors.initials: A
authors.lastname: Rasore-Quartino
mesh_terms: D000741:Anemia, Aplastic / Q000209:etiology / Q000601:surgery; D001853:Bone Marrow / Q000473:pathology; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009260:Nail Diseases / Q000151:congenital; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital; D012871:Skin Diseases / Q000151:congenital* / Q000235:genetics / Q000601:surgery; D013577:Syndrome; D014960:X Chromosome