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Clinical and Experimental Rheumatology 2021Acro-osteolysis is often associated with systemic sclerosis (SSc). However, the severity of acro-osteolysis and its clinical association among SSc patients is limited....
OBJECTIVES
Acro-osteolysis is often associated with systemic sclerosis (SSc). However, the severity of acro-osteolysis and its clinical association among SSc patients is limited. Our aims were to assess the prevalence of acro-osteolysis and the clinical association with acro-osteolysis among SSc patients at early onset of the disease.
METHODS
A cross-sectional study of 120 newly diagnosed SSc patients with the onset of less than 4 years were evaluated on clinical characteristics and hand radiographs. Acro-osteolysis was graded on a 0-4-point scale based on the severity and the patients were subdivided into mild, moderate and severe.
RESULTS
Among all SSc patients enrolled, 62.5% were females, 56.1% dcSSc and the vast majority of them (84.1%) were positive for anti-topoisomerase I antibody (anti-topo I). The mean disease duration was 2.0±1.3 years. Acro-osteolysis was noted in 77 patients with a prevalence of 64.1% (95%CI 54.9-72.7), of which 16.7% were defined as severe acro-osteolysis. Logistic regression analysis revealed that acro-osteolysis was positively associated with anti-topo I (OR 13.96), hand deformity (OR 3.81) and dysphagia (OR 6.66), but negatively associated with oedematous skin (OR 0.05). Analysis stratified by severity of acro-osteolysis showed significant differences between subgroup in terms of the presence of digital gangrene (p=0.02), ischaemic ulcer (p=0.001), oedematous skin (p=0.001), and hand deformities (p=0.01).
CONCLUSIONS
Acro-osteolysis was common in SSc at the early onset of disease. While the presence of anti-topo I, hand deformity and esophageal involvement were strongly associated with acro-osteolysis, oedematous skin was the protective factor for acro-osteolysis.
Topics: Acro-Osteolysis; Cross-Sectional Studies; Female; Humans; Prevalence; Scleroderma, Diffuse; Scleroderma, Systemic
PubMed: 33427611
DOI: 10.55563/clinexprheumatol/vggbdq -
Bone Apr 2023
Topics: Humans; Child; Adult; Pycnodysostosis; Cathepsin K; Mutation, Missense
PubMed: 36646263
DOI: 10.1016/j.bone.2023.116674 -
Pediatric Rheumatology Online Journal Jul 2021Acro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with various conditions and its presence... (Review)
Review
INTRODUCTION
Acro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with various conditions and its presence should prompt the clinician to search for the underlying etiology. The aim of this review is to discuss disorders with which acro-osteolysis is associated and their distinguishing features, with a focus on the pediatric population.
METHODS
A targeted literature review was performed using the term "acro-osteolysis" in combination with other key terms. The primary search results were supplemented using reference citations. Articles published prior to the year 2000 were included if they described additional associations not encountered in the more recent literature.
RESULTS
Genetic disorders (particularly primary hypertrophic osteoarthropathy and skeletal dysplasias) and rheumatic diseases (particularly psoriatic arthritis and systemic sclerosis) are the most frequently encountered conditions associated with acro-osteolysis in children. Hyperparathyroidism, neuropathy, local trauma and thermal injury, and spinal dysraphism should also be included in the differential diagnosis.
CONCLUSION
Although acro-osteolysis is uncommon, its presence should prompt the clinician to consider a differential diagnosis based on clinical and radiographic features.
Topics: Acro-Osteolysis; Child; Diagnosis, Differential; Humans; Pediatrics; Rheumatology
PubMed: 34261502
DOI: 10.1186/s12969-021-00596-0 -
European Journal of Case Reports in... 2020We describe a case of systemic sclerosis (SS) with acro-osteolysis associated with cutaneous mucinosis, usually characterized by mucin deposition in the skin. The main...
OBJECTIVES
We describe a case of systemic sclerosis (SS) with acro-osteolysis associated with cutaneous mucinosis, usually characterized by mucin deposition in the skin. The main differential diagnosis was multicentric reticulohistiocytosis due to the presentation of papulonodular skin lesions.
MATERIALS AND METHODS
A physical examination, imaging studies and laboratory tests were performed.
RESULTS
Distal bone resorption was evident on plain radiographs, and skin biopsy confirmed mucinosis. The SS diagnosis was based on the clinical features, high levels of antinucleolar antibodies and typical nailfold capillaroscopy findings.
CONCLUSION
To the best of our knowledge, this is the first description of cutaneous mucinosis accompanying SS with acro-osteolysis.
LEARNING POINTS
Cutaneous mucinosis is rarely associated with systemic sclerosis.Systemic sclerosis with cutaneous mucinosis may resemble multicentric reticulohistiocytosis.
PubMed: 32789122
DOI: 10.12890/2020_001568 -
Nature Communications Sep 2020Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report...
Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitochondrial membrane protein, in patients presenting with a severe laminopathy-like mandibuloacral dysplasia characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis and severe hypertension. Loss of MTX2 in patients' primary fibroblasts leads to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts are resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. Interestingly, secondary nuclear morphological defects are observed in both MTX2-mutant fibroblasts and mtx-2-depleted C. elegans. We thus report the identification of a severe premature aging syndrome revealing an unsuspected link between mitochondrial composition and function and nuclear morphology, establishing a pathophysiological link with premature aging laminopathies and likely explaining common clinical features.
Topics: Acro-Osteolysis; Aging, Premature; Animals; Apoptosis; Caenorhabditis elegans; Cell Proliferation; Child; Down-Regulation; Female; Fibroblasts; Gene Expression Regulation; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Lipodystrophy; Male; Mandible; Membrane Proteins; Metalloendopeptidases; Mitochondria; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Phenotype; Skin; Whole Genome Sequencing
PubMed: 32917887
DOI: 10.1038/s41467-020-18146-9 -
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 -
Orphanet Journal of Rare Diseases Dec 2023Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and... (Review)
Review
BACKGROUND
Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to progressive disability and severe functional limitations. In addition to the available and upcoming drug therapies, physical medicine and rehabilitation are important treatment options. Currently, the indication and plan are overlooked, nonspecific and reported only for one patient.
METHODS
We describe a case series of MCTO patients diagnosed and followed by a centre to identify functional deficit as a potential clinical marker of disease progression for future etiological therapies. In addition, we define a symptomatic treatment approach and specific clinical management, including a patient-centred rehabilitation approach. Functional assessments are performed independently by a multidisciplinary group to establish the functional abilities of patients and the relationship between residual motor skills and their degree of autonomy and participation. We suggest a way to identify a rehabilitation plan based on a specific disease using the International Classification of Functioning, Disability and Health Children and Youth (ICF-CY).
RESULTS
To define a reliable and reproducible "Function Profile", through age and over time, we used to value the disease status according to the ICF-CY domains. It could be used to determine the complexity of the illness, its overall impact on the complexity of the person and the burden on the caregiver, and an eventual short- and long-term rehabilitation plan for MCTO and other ultra-rare diseases.
CONCLUSION
Based on the MCTO experience, we suggest a way to determine a rehabilitation plan based on a specific disease and patient needs, keeping in mind that often the final point is not recovering the full function but improving or maintaining the starting point. In all cases, each patient at the time of diagnosis requires a functional assessment that must be repeated over time to adjust the course of rehabilitation. The evaluations revealed the importance of early rehabilitation management in enhancing independence, participation and control of stress deconditioning, shrinking of muscle tendons and loss of movement to immobility.
Topics: Child; Adolescent; Humans; Osteolysis; Activities of Daily Living; Disease Progression; Hajdu-Cheney Syndrome
PubMed: 38124110
DOI: 10.1186/s13023-023-02976-z -
Journal of the American Academy of... Dec 2020Carpal tunnel syndrome (CTS) is commonly seen by general practitioners and often presents with neurologic symptoms of nocturnal pain and paresthesia along the median... (Review)
Review
Carpal tunnel syndrome (CTS) is commonly seen by general practitioners and often presents with neurologic symptoms of nocturnal pain and paresthesia along the median nerve distribution. Approximately 20% of patients also present with cutaneous findings (ulcerations, blistering, sclerodactyly, nail dystrophy) characterizing a severe form called necrotic CTS. Necrotic CTS can also be associated with bone changes (acro-osteolysis). In the author's practice, combined nail and skin findings are not an uncommon presentation of CTS, although this form remains overlooked and underreported in the dermatological textbooks and studies. This manuscript aims to review the literature on CTS cases, with a specific focus on using associated nail findings as diagnostic clues. The literature review along with a few additional recent cases from the author's practice demonstrate that CTS is frequently accompanied by a variety of nail changes including koilonychia, longitudinal fissuring, Beau's lines, onychomadesis, melanonychia, nail thickening, hyperkeratosis, and ischemic ulcerations with paronychia. Furthermore, when these changes are limited to the second and third fingernails, they should prompt the diagnosis of CTS. Once suspected, diagnostic evaluation is not difficult and surgical management can resolve cutaneous findings and prevent irreversible changes such as acro-osteolysis.
Topics: Administration, Topical; Carpal Tunnel Syndrome; Decompression, Surgical; Fingers; Glucocorticoids; Humans; Injections, Intralesional; Median Nerve; Nails; Nails, Malformed; Necrosis; Nitroglycerin; Severity of Illness Index; Splints; Treatment Outcome
PubMed: 32199899
DOI: 10.1016/j.jaad.2020.03.023 -
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 -
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