Hajdu-Cheney综合征(HCS)是一种罕见的疾病,导致骨质疏松症,数字缩短,早期牙齿脱落。在一个年轻的HCS女性患者中,甲褶毛细血管镜检查显示所有受影响手指的毛细血管高度降低和密度降低.毛细管镜检查可以改善HCS的随访和治疗评估。Hajdu-Cheney综合征(HCS)是一种非常罕见的结缔组织疾病,以骨质疏松症为特征,早期牙列缺失和NOTCH2信号增强导致的特定表型。骨吸收和骨质疏松症的发病机制尚未完全了解。改变的血管生成可能在肢端骨质溶解中起作用。我们进行了毛细管镜检查,以评估一名21岁女性散发性HCS患者的微血管受累情况。病人出现了严重的牙本质病,肢端骨溶解,还有四个手指和三个脚趾。手部X光片显示关节周围骨质疏松症和不对称的骨累及,数指的肢端吸收和/或横向透明带。临床和辅助检查排除了早期的胶原血管疾病,包括系统性硬化症的免疫学和免疫印迹。甲皱毛细血管镜检查显示所有受影响的手指的毛细血管高度和密度降低。值得注意的是,在有肢端吸收的手指中,许多毛细血管扩张,而在具有辐射透射带的那些中,毛细血管扩张是一个罕见的发现。在临床上不受影响的手指中,毛细血管镜检查结果正常.据我们所知,这是关于HCS的毛细管镜检查结果的首次报道.甲皱毛细血管镜方面反映了HCS中acal血管的受累;因此,毛细血管镜检查可能是一种早期诊断工具,也是一种治疗性评估手段。在HCS中重复进行毛细血管镜检查也可能增加对其发病机理的理解。
Hajdu-Cheney syndrome (HCS) is a rare disease which causes osteoporosis, digit shortening, and early tooth loss. In a young HCS female patient, the nailfold
capillaroscopy showed reduced capillary height and reduced density in all affected fingers.
Capillaroscopy could improve follow-up and therapy assessment in HCS. Hajdu-Cheney syndrome (HCS) is a very rare connective tissue disease characterized by osteoporosis, early dentition loss and a particular phenotype as a result of enhanced NOTCH2 signaling. The pathogenesis of bone resorption and osteoporosis is not fully understood. The altered angiogenesis may play a role in acroosteolysis. We performed
capillaroscopy in order to assess the microvascular involvement in a 21-year-old female patient with sporadic HCS. The patient presented with severe parodontopathy, acroosteolysis, and clubbing of four fingers and three toes. Hand radiographs showed periarticular osteoporosis and asymmetric bony involvement with acral resorption and/or transversal lucency bands in several fingers. Early collagen-vascular diseases were ruled out by clinical and ancillary examinations, including immunology and immunoblot for systemic sclerosis. Nailfold
capillaroscopy showed reduction of capillary height and density in all affected fingers. Notably, in the fingers with acral resorption, many capillaries were dilated, while in the ones with radiolucency band, capillary dilation was a rare finding. In clinically unaffected fingers, the capillaroscopic findings were normal.To our knowledge, this is the first report of capillaroscopic findings in HCS. The nailfold capillaroscopic aspect reflects the involvement of acral vessels in HCS; thus, capillaroscopy may represent an early diagnostic tool as well as a means of therapeutical assessment. Repeated
capillaroscopy in HCS may also add to the understanding of its pathogenesis.