Navarro J T, Ribera J M, Millá F, Flores A, Florensa L, Granada I, Feliu E
Servicio de Hematología-Hemoterapia, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona.
Sangre (Barc). 1994 Jun;39(3):207-9.
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.
先天性角化不良是一种罕见疾病，累及外胚层衍生组织，半数病例会并发骨髓发育不全。本文报告一名25岁男性，其12岁时发育迟缓，左手无名指短小，牙齿异位萌出，皮肤色素沉着，膝盖、手和足部出现角化过度。他有贫血（血红蛋白92g/L）、白细胞减少（2.7×10⁹/L）伴中性粒细胞减少（0.34×10⁹/L），骨髓显示发育不全，尤其影响粒细胞生成。细胞遗传学研究正常。未给予治疗，13年后的血液学复查显示无明显定量变化。骨髓培养中髓系和巨核细胞集落数量减少。本文对与先天性角化不良相关的骨髓发育不全的临床和实验室特征进行了评论，重点强调了其与其他先天性发育不全形式，尤其是范可尼贫血的鉴别。
