[Marrow hypoplasia associated with congenital dyskeratosis. Case report].
Congenital dyskeratosis is a rare disease involving ectodermal derived tissues and presenting bone-marrow hypoplasia as a complication in one half of the cases. A 25 year-old male is presented who at age 12 showed retarded development with shortness of the 4th finger of his left hand, anomalous implantation of teeth, hyperpigmented skin and hyperkeratosis on his knees, hands and feet. He had anaemia (Hb 92 g/L) and leucopenia (2.7 x 10(9)/L) with neutropenia (0.34 x 10(9)/L) and his bone-marrow showed hypoplasia, especially affecting granulopoiesis. The cytogenetic studies were normal. No treatment was given, and a haematological re-evaluation performed 13 years later showed no significant quantitative changes. Decreased number of myeloid and megakaryocytic colonies were present in the bone-marrow cultures. The clinical and laboratory characteristics of the bone-marrow aplasia associated to congenital dyskeratosis are commented, stress being laid on its differentiation from other constitutional forms of aplasia, especially Fanconi's anaemia.
Navarro
J T
JT
Servicio de Hematología-Hemoterapia, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona.
Ribera
J M
JM
Millá
F
F
Flores
A
A
Florensa
L
L
Granada
I
I
Feliu
E
E
D000328:Adult; D001853:Bone Marrow / Q000473:pathology*; D003114:Colony-Forming Units Assay; D006130:Growth Disorders / Q000209:etiology / Q000473:pathology; D006801:Humans; D008297:Male; D009260:Nail Diseases / Q000151:congenital* / Q000473:pathology; D010198:Pancytopenia / Q000151:congenital* / Q000473:pathology; D010859:Pigmentation Disorders / Q000151:congenital* / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital* / Q000473:pathology
Hipoplasia medular asociada a disqueratosis congénita. Estudio de un caso.