Capillaroscopic findings in a case of Hajdu-Cheney syndrome

Abstract

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.

The developmental biology of genetic Notch disorders

“…Similarly, disruption of Notch signaling in endothelial cells impairs bone vessel formation and the Notch-dependent release of noggin [a bone morphogenetic protein (BMP) antagonist] from endothelial cells, leading to reduced osteogenesis, shortening of long bones, chondrocyte defects, loss of trabeculae and decreased bone mass (Ramasamy et al, 2014). This is especially interesting in light of the capillary defects observed in digits of individuals with Hajdu-Cheney syndrome with acroosteolysis (Damian et al, 2016).…”

Cornus officinalis: a potential herb for treatment of osteoporosis

“…Furthermore, abnormal blood glucose levels downregulate PI3K-AKT signaling pathway to inhibit OB activity and promote OC activity in the trabecular bone region with reduced serum level of OCN and ALP ( 50 , 51 ). All these findings underscore the close relationship between blood vessels and the pathological process of OP, particularly the number of type H vessels and capillaries, bone blood flow and vascular calcium deposition besides vascular calcium, phosphorus and glucose metabolism ( 31 , 34–36 , 48 , 49 ).…”

“…And insufficient blood flow can lead to delayed bone repair and other low bone mass diseases due to impaired osteogenesis ( 32 , 33 ). Moreover, a female patient with a rare Hajdu-Cheney syndrome causing periarticular OP showed reduced the height and density of blood vessels in all affected fingers ( 34 ). Triggering the activation of the HIF signaling pathway in OB could prevent the reduction of blood vessels in the bone marrow of postmenopausal OP patients to prevent bone loss ( 35 ).…”

Hajdu–Cheney Syndrome: A Systematic Review of the Literature

“…Kawamura et al [23] indicate the importance of performing magnetic resonance imaging as a complementary test to physical examination. Damian et al [63] proposed capillaroscopy as a clinical test for HCS diagnosis.…”