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Clinical and Experimental Rheumatology Aug 2023To assess the associations and prognostic value of scleroderma patterns by nailfold videocapillaroscopy (NVC) in patients with systemic sclerosis (SSc) and cutaneous...
OBJECTIVES
To assess the associations and prognostic value of scleroderma patterns by nailfold videocapillaroscopy (NVC) in patients with systemic sclerosis (SSc) and cutaneous subsets.
METHODS
At baseline, 1356 SSc patients from the RESCLE registry were compared according to the scleroderma pattern as Late pattern and non-Late pattern, which included Early and Active patterns. Patient characteristics, disease features, survival time and causes of death were analysed.
RESULTS
Late pattern was identified in 540 (39.8%), and non-Late pattern in 816 (60.2%) patients (88% women; 987 lcSSc/251 dcSSc). Late pattern was associated to dcSSc (OR=1.96; p<0.001), interstitial lung disease (ILD) (OR=1.29; p=0.031), and scleroderma renal crisis (OR=3.46; p<0.001). Once the cutaneous subset was disregarded in an alternative analysis, both digital ulcers (DU) (OR=1.29; p<0.037) and anti-topoisomerase I antibodies (OR=1.39; p< 0.036) emerged associated with the Late pattern. By cutaneous subsets, associations with Late pattern were: (1) in dcSSc, acro-osteolysis (OR=2.13; p=0.022), and systolic pulmonary artery pressure >40 mmHg by Doppler echocardiogram (OR=2.24; p<0.001); and (2) in lcSSc, ILD (OR=1.38; p=0.028). Survival was reduced in dcSSc with Late pattern compared to non-Late pattern (p=0.049). Risk factors for SSc mortality in multivariate regression Cox analysis were age at diagnosis (HR=1.03; p<0.001), dcSSc (HR=2.48; p<0.001), DU (HR=1.38; p=0.046), ILD (HR=2.81; p<0.001), and pulmonary arterial hypertension (HR=1.99; p<0.001).
CONCLUSIONS
SSc patients with Late pattern more frequently present dcSSc and develop more fibrotic and vascular manifestations. Advanced microangiopathy by NVC identifies dcSSc patients at risk of reduced survival due to SSc-related causes.
Topics: Humans; Female; Male; Prognosis; Microscopic Angioscopy; Scleroderma, Systemic; Lung Diseases, Interstitial
PubMed: 37534953
DOI: 10.55563/clinexprheumatol/8lrofr -
Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.Clinical and Experimental Dermatology Oct 2023
Topics: Humans; Cathepsin C; Papillon-Lefevre Disease; Acro-Osteolysis; Mutation
PubMed: 37493199
DOI: 10.1093/ced/llad241 -
Scientific Reports Jul 2023Notch signaling regulates cell fate in multiple tissues including the skeleton. Hajdu-Cheney-Syndrome (HCS), caused by gain-of-function mutations in the Notch2 gene, is...
Notch signaling regulates cell fate in multiple tissues including the skeleton. Hajdu-Cheney-Syndrome (HCS), caused by gain-of-function mutations in the Notch2 gene, is a rare inherited disease featuring early-onset osteoporosis and increased risk for fractures and non-union. As the impact of Notch2 overactivation on fracture healing is unknown, we studied bone regeneration in mice harboring a human HCS mutation. HCS mice, displaying high turnover osteopenia in the non-fractured skeleton, exhibited only minor morphologic alterations in the progression of bone regeneration, evidenced by static radiological and histological outcome measurements. Histomorphometry showed increased osteoclast parameters in the callus of HCS mice, which was accompanied by an increased expression of osteoclast and osteoblast markers. These observations were accompanied by inferior biomechanical stability of healed femora in HCS mice. Together, our data demonstrate that structural indices of bone regeneration are normal in HCS mice, which, however, exhibit signs of increased callus turnover and display impaired biomechanical stability of healed fractures.
Topics: Humans; Mice; Animals; Fracture Healing; Hajdu-Cheney Syndrome; Bone Diseases, Metabolic; Osteoporosis; Osteoclasts; Receptor, Notch2
PubMed: 37452111
DOI: 10.1038/s41598-023-38638-0 -
Special Care in Dentistry : Official... 2024Hajdu-Cheney syndrome (HCS) also known as Cranio-skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro-osteolysis and...
Hajdu-Cheney syndrome (HCS) also known as Cranio-skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro-osteolysis and generalized osteoporosis. The other distinctive features include a dysmorphic face, short stature, aplasia of facial sinuses, and persistent cranial sutures. Although the condition begins to manifest since birth, the characteristic features become more prominent with age. This syndrome is usually recognized by dentists due to these craniofacial abnormalities. This case report aims to highlight a case of 6-year-old girl HCS who presented with aberrant facial features, premature exfoliation of teeth, unusual mobility of teeth and atypical root resorption in primary dentition.
Topics: Child; Female; Humans; Hajdu-Cheney Syndrome; Osteoporosis; Face
PubMed: 37227705
DOI: 10.1111/scd.12878 -
Journal of Clinical Rheumatology :... Aug 2023
Topics: Humans; Mixed Connective Tissue Disease; Acro-Osteolysis; Fingers
PubMed: 36944417
DOI: 10.1097/RHU.0000000000001959