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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 -
JA Clinical Reports Jun 2023Hajdu-Cheney syndrome (HCS) is an extremely rare disorder characterized by progressive acro-osteolysis. A unique facial structure and deformity of the cervical spine are...
BACKGROUND
Hajdu-Cheney syndrome (HCS) is an extremely rare disorder characterized by progressive acro-osteolysis. A unique facial structure and deformity of the cervical spine are associated with a difficult airway. Although several reports describe general anesthesia with orotracheal intubation for patients with HCS, there have been no reports of nasotracheal intubation with a risk of skull base fracture. We describe nasotracheal intubation for oral surgery in a patient with HCS.
CASE PRESENTATION
A 13-year-old girl with HCS was scheduled for dental surgery. Preoperative computed tomography revealed no abnormalities including fractures in the skull base or cervical spine. After confirming a lack of vocal cord paralysis by bronchofiberscopic inspection from the nose, general anesthesia was induced with sevoflurane, remifentanil, and rocuronium. Fiber-optic nasotracheal intubation was successfully performed without complications such as depletion of oxygen saturation and massive epistaxis, and the surgery was completed uneventfully. She was discharged the day after surgery with no anesthesia-related complications.
CONCLUSIONS
We were able to safely manage the airway of a patient with HCS by nasotracheal intubation under general anesthesia.
PubMed: 37306808
DOI: 10.1186/s40981-023-00627-7 -
Frontiers in Oral Health 2023Pycnodysostosis is a skeletal dysplasia characterized by short stature, generalized osteosclerosis, acro-osteolysis, and recognizable facial features. Oral...
Pycnodysostosis is a skeletal dysplasia characterized by short stature, generalized osteosclerosis, acro-osteolysis, and recognizable facial features. Oral manifestations are commonly described and include a high-arched palate with dental crowding and malocclusion, hypoplastic enamel, and retained deciduous teeth with impacted permanent teeth, and there is an increased risk of developing osteomyelitis of the jaw. We report here the history of a 9-year-old male with the typical facial and skeletal phenotype of pycnodysostosis but novel oral features. He presented with bilateral progressive facial swelling, which caused functional impairment with chewing and contributed to his severe obstructive sleep apnea (OSA). The severity of his OSA required surgical intervention, and the lesions were resected. Extensive bone remodeling and replacement by fibrous tissue were noted on submucosal dissection, and bilateral subtotal maxillectomies were required. The histopathology of the biopsied lesion was consistent with a giant cell-rich lesion. Genetic testing identified a pathogenic homozygous variant in the gene, c.953G > A, p. (Cys318Tyr). The proband had a good postsurgical response with sustained improvement in his sleep OSA. We present here the history and clinical characteristics of a patient with typical features of pycnodysostosis and an unusual presentation and histopathology of gnathic bone lesions. This report adds to the body of literature on this rare condition and also highlights the finding of giant cell-rich lesions of the gnathic bones. Giant cell-rich lesions in pycnodysostosis have previously been reported in two cases in the literature. While there is not enough evidence to support a certain association with pycnodysostosis, it is prudent to consider regular oral dental reviews in affected individuals to identify pathology early and avoid such life-threatening complications.
PubMed: 37288425
DOI: 10.3389/froh.2023.1188443 -
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 -
BMC Rheumatology May 2023Systemic sclerosis (SSc) is a rare autoimmune disorder characterized by vascular and fibrosing involvement of the skin and internal organs. In this study, we determined...
AIM
Systemic sclerosis (SSc) is a rare autoimmune disorder characterized by vascular and fibrosing involvement of the skin and internal organs. In this study, we determined the prevalence and characteristics of radiological hands and feet involvements in Iranian SSc patients to identify the associations between clinical features and radiologic findings.
METHODS
43 SSc patients (41 women and 2 men), with a median age of 44.8 years (ranges 26-70 years) and a mean disease duration of 11.8 years (ranges 2-28 years) were studied in this cross-sectional study.
RESULTS
42 patients had radiological changes both in their hands and feet. Only one patient had alteration just in hand. The most frequent changes that we found in hand were Juxta-articular Osteoporosis (93%), Acro-osteolysis (58.2%), and Joint Space Narrowing (55.8%). The prevalence of joint space narrowing or acro-osteolysis was higher in subjects with active skin involvement [modified Rodnan skin score (mRSS) > 14] [16/21 vs. 4/16 for patients with inactive skin involvement (mRSS < 14); p = 0.002]. The most frequent changes that we found in the foot were Juxta-articular Osteoporosis (93%), Acro-osteolysis (46.5%), Joint Space Narrowing (58.1%), and subluxation (44.2%). The presence of anti-ccp antibody was detected in 4 (9.3%), while positive rheumatoid factor was found in 13 (30.2%) of SSc patients.
CONCLUSION
This study corroborates that arthropathy is common in SSc patients. The introduction of the specific radiological involvements of SSc needs to be confirmed by further studies, in order to define the appropriate prognosis and treatment of patients.
PubMed: 37208734
DOI: 10.1186/s41927-023-00336-9 -
European Journal of Medical Genetics Jul 2023Signs of skeletal dysplasias are relatively common in fetuses with abnormal ultrasound (US) findings. The diversity of congenital skeletal disorders, the possibility of... (Review)
Review
Signs of skeletal dysplasias are relatively common in fetuses with abnormal ultrasound (US) findings. The diversity of congenital skeletal disorders, the possibility of late-onset severe phenotypes and overlapping syndromes can be a challenge in the way of diagnosis, even if prenatal high-throuput sequencing allows for a better diagnosis, prognosis and genetic counseling. Hajdu-Cheney spectrum pathologies are rarely described in prenatal, and the signs associated remain poorly known, and do not include specific postnatal signs as acro-osteolysis and premature osteoporosis. We hereby report a couple for whom a medical termination of pregnancy was performed because a severe polymalformative syndrome associating severely short limbs with bowed long bones, severe cardiopathy, hyperechogenic kidneys and dysmorphism. After fetopathological and radiological examinations, Exome Sequencing (ES) was performed and revealed a de novo truncating mutation in the last exon of NOTCH2, responsible for Hajdu-Cheney or Serpentine Fibula Polycystic Kidney syndromes.
Topics: Female; Humans; Pregnancy; Hajdu-Cheney Syndrome; Osteoporosis; Acro-Osteolysis; Exons; Labor Presentation; Receptor, Notch2
PubMed: 37121269
DOI: 10.1016/j.ejmg.2023.104769 -
Heliyon Apr 2023Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), Torg syndrome (TS) and Multicentric Osteolysis Nodulosis and Arthropathy (MONA) are progressive skeletal...
Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), Torg syndrome (TS) and Multicentric Osteolysis Nodulosis and Arthropathy (MONA) are progressive skeletal dysplasia consisting of acro-osteolysis. Mutation in Matrix Metalloproteinase 2 (MMP2), Matrix Metalloproteinase 14 (MMP14) and SH3PXD2B are known genetic defects in these disorders. We hereby report a 5 years and 9 months old girl suffering from progressive limb deformity. She is the first child of a relative couple, who was referred to metabolic disorders' clinic due to poor growth and bone pain. On physical examination, minor facial dysmorphism, hypertrichosis, severe hand deformity with limitation in range of motion in carpal, metacarpal and phalangeal joints, hallux valgus deformity of feet, soft tissue hypertrophy and nodule formation in palmoplantar areas were detected. Her past history indicated a cardiac defect resulting in open heart surgery at 8 months of age. Genetic study revealed a new homozygote nonsense mutation in MMP2 gene explaining her clinical manifestations. We recommend careful evaluation and follow-up of patients with congenital heart disease, as it may be the first presentation of a genetic multisystem disorder. Early differentiation of the disease from other skeletal dysplasia and rheumatologic disorders could prevent unnecessary management.
PubMed: 37025869
DOI: 10.1016/j.heliyon.2023.e14865 -
ACR Open Rheumatology May 2023
PubMed: 36988894
DOI: 10.1002/acr2.11541