罕见病中的多系统表现：先天性角化不良症的经验。
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
机构信息
Pediatric Dentistry and Special Dental Care Unit, Meyer Children's University Hospital, 50139 Florence, Italy.
Unit of Metabolism, Bambino Gesù Children's Research Hospital, Piazza Sant'Onofrio, 4, 00165 Rome, Italy.
出版信息
Genes (Basel). 2022 Mar 11;13(3):496. doi: 10.3390/genes13030496.
Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. It may also involve immunodeficiencies, dental, pulmonary and liver disorders, and other minor complication. Dyskeratosis congenita shows marked genetic heterogeneity, as at least 14 genes are responsible for the shortening of telomeres characteristic of this disease. This review discusses clinical characteristics, molecular genetics, disease evolution, available therapeutic options and differential diagnosis of dyskeratosis congenita to provide an interdisciplinary and personalized medical assessment that includes family genetic counseling.
先天性角化不良（DC）是首个在端粒病中描述的遗传综合征。其典型表型的特征是皮肤花边状网状色素沉着、指甲营养不良和口腔白斑的黏膜皮肤三联征。然而，临床表现具有异质性，严重的临床并发症包括骨髓衰竭、血液系统和实体瘤。它也可能涉及免疫缺陷、牙齿、肺部和肝脏疾病以及其他较小的并发症。先天性角化不良表现出明显的遗传异质性，因为至少有 14 个基因负责缩短这种疾病特征的端粒。这篇综述讨论了先天性角化不良的临床特征、分子遗传学、疾病进展、可用的治疗选择和鉴别诊断，以提供包括家族遗传咨询在内的跨学科和个性化的医学评估。
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