Abstract：
Dysosteosclerosis (DSS) refers to skeletal dysplasias that radiographically feature focal appendicular osteosclerosis with variable platyspondyly. Genetic heterogeneity is increasingly reported for the DSS phenotype and now involves mutations of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, and CSF1R. Typical radiological findings are widened radiolucent long bones with thin cortices yet dense irregular metaphyses, flattened vertebral bodies, dense ribs, and multiple fractures. However, the radiographic features of DSS evolve, and the metaphyseal and/or appendicular osteosclerosis variably fades with increasing patient age, likely due to some residual osteoclast function. Fractures are the principal presentation of DSS, and may even occur in infancy with SLC29A3-associated DSS. Cranial base sclerosis can lead to cranial nerve palsies such as optic atrophy, and may be the initial presentation, though not observed with SLC29A3-associated DSS. Gene-specific extra-skeletal features can be the main complication in some forms of DSS such as CSF1R- associated DSS. Further genetic heterogeneity is likely, especially for X-linked recessive DSS and cases currently with an unknown genetic defect. Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DSS phenotype is important for predicting complications, prognosis, and instituting appropriate health surveillance and treatment.
摘要：
肌张力硬化（DSS）是指骨骼发育不良，其影像学特征是局灶性阑尾骨硬化并伴有可变的颈椎病。DSS表型的遗传异质性越来越多，现在涉及SLC29A3，TNFRSF11A，TCIRG1、LRRK1和CSF1R。典型的放射学发现是增宽的射线可透的长骨，皮质薄，但致密的不规则干is端。扁平的椎体,密集的肋骨，和多处骨折.然而,DSS的射线照相特征演变，干phy端和/或阑尾骨硬化随着患者年龄的增加而逐渐消失，可能是由于一些残余的破骨细胞功能。骨折是DSS的主要表现,甚至可能发生在与SLC29A3相关的DSS的婴儿期。颅底硬化会导致视神经萎缩等颅神经麻痹，可能是最初的演示，尽管与SLC29A3关联的DSS没有观察到。基因特异性骨骼外特征可能是某些形式的DSS(例如CSF1R相关DSS)的主要并发症。进一步的遗传异质性是可能的，特别是X连锁隐性DSS和目前具有未知遗传缺陷的病例。由于可变的临床和放射学特征以及不断发展的表型，区分DSS可能具有挑战性。然而,定义DSS表型对于预测并发症很重要，预后,并建立适当的健康监测和治疗。
