Olivieri Cristina, Mondino Anna, Chinello Matteo, Risso Alessandra, Finale Enrico, Lanciotti Marina, Guala Andrea
Department of Public and Pediatric Health Sciences, University of Turin.
Department of Pediatric Hematology and Oncology, Policlinico G.B. Rossi, Verona.
Pediatr Rep. 2017 Oct 6;9(3):7301. doi: 10.4081/pr.2017.7301.
Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in . Our family confirms again that one mutation can be associated with different phenotypes and different hematological manifestations. It's possible to speculate that there are likely to be patients who do not clinically fit neatly into either classical DC or HHS, but whose clinical features are due to mutations in or in genes responsible for autosomal DC/HHS.
先天性角化不良（DC）是一种遗传性骨髓衰竭疾病，其特征为黏膜皮肤表现（皮肤色素沉着、指甲营养不良和口腔白斑）、肺纤维化、血液系统和实体恶性肿瘤。其严重形式被称为霍耶拉尔 - 赫雷达尔松综合征（HHS），还包括小脑发育不全、小头畸形、发育迟缓以及产前生长迟缓。在文献中，具有相同突变的DC患者之间的表型变异性是众所周知的。据我们所知，本报告首次描述了一个DC患者家族，其特征是一名成员具有经典DC的特征，另一名具有HHS的一些特征，两者在 中具有相同的突变。我们的家族再次证实，一个突变可能与不同的表型和不同的血液学表现相关。有可能推测存在一些患者，他们在临床上既不完全符合经典DC也不完全符合HHS，但他们的临床特征是由于 或负责常染色体DC/HHS的基因突变所致。
