■先天性角化病(DC)是一种多系统和超罕见的遗传性疾病,其特征是躯体受累,骨髓衰竭,和癌症的易感性。这项研究的主要目的是通过一组在儿童时期诊断并长期随访的患者来描述DC的自然史。
■多中心,回顾性,在患者中进行的纵向研究,随访时间为儿童期确诊后24年(1998年至2020年).
■14例患者在3至17岁之间被诊断为DC(中位数,8.5年)。他们在诊断时都有血液学表现,在生命的第一个十年中,有九个发展了粘膜皮肤表现。七个呈现严重的DC变体。随访期间均出现非血液学表现。在12名患者中鉴定出突变。13岁进展为骨髓衰竭,中位年龄为8岁[范围,3-18岁],八人接受了造血干细胞移植。中位随访时间为9年[范围,2-24年]。六名病人死亡,中位年龄为13岁[范围,6-24年]。截至2022年11月,8名患者仍然活着,年龄中位数为18岁[范围,6-32年]。他们都没有发展成粒细胞综合征或癌症。
■DC与高发病率和高死亡率相关。血液学表现早期且持续出现。非血液学表现逐渐发展。没有患者可能由于年龄较小而患上癌症。由于疾病的复杂性,多学科随访和向成人护理的充分过渡至关重要。
UNASSIGNED: Dyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, and predisposition to cancer. The main objective of this
study is to describe the natural history of DC through a cohort of patients diagnosed in childhood and followed up for a long period of time.
UNASSIGNED: Multicenter, retrospective, longitudinal
study conducted in patients followed up to 24 years since being diagnosed in childhood (between 1998 and 2020).
UNASSIGNED: Fourteen patients were diagnosed with DC between the ages of 3 and 17 years (median, 8.5 years). They all had hematologic manifestations at diagnosis, and nine developed mucocutaneous manifestations during the first decade of life. Seven presented severe DC variants. All developed non-hematologic manifestations during follow-up. Mutations were identified in 12 patients. Thirteen progressed to bone marrow failure at a median age of 8 years [range, 3-18 years], and eight received a hematopoietic stem cell transplant. Median follow-up time was 9 years [range, 2-24 years]. Six patients died, the median age was 13 years [range, 6-24 years]. As of November 2022, eight patients were still alive, with a median age of 18 years [range, 6-32 years]. None of them have developed myeloblastic syndrome or cancer.
UNASSIGNED: DC was associated with high morbidity and mortality in our series. Hematologic manifestations appeared early and consistently. Non-hematologic manifestations developed progressively. No patient developed cancer possibly due to their young age. Due to the complexity of the disease multidisciplinary follow-up and adequate transition to adult care are essential.