Deformities

Author(s):  
Aziz Shaibani

Deformities are important markers for congenital and hereditary neuromuscular disorders. For example, kyphosis, scoliosis, and pes cavus are common in Charcot-Marie-Tooth (CMT) disease and hereditary ataxias. Deformities such as high feet arches may also result from long-time weakness and asymmetry. Other types of deformities may be related to connective tissue pathology, which can be associated with neuromuscular disorders. Examples include multiple lipomatosis, scleroderma, and nephrogenic systemic sclerosis (NSS). Charcot joint is a result of lack of proprioceptive sensation and is usually associated with severe chronic neuropathy. Deformity of the nose can result from syphilis and leprosy. This chapter shows examples of these deformities and their treatments.

Author(s):  
Aziz Shaibani

Deformities are important markers for congenital and hereditary neuromuscular disorders. Kyphosis, scoliosis, Pes Cavus, for example, are common in CMT and hereditary ataxias. Deformities may also result from long-term weakness and asymmetry. Chronic neuropathies with distal weakness may lead to gradual changes in the height of feet arches. A high foot arche that is corrected with wight bearing or manually, is usually not congenital. Other types of deformities are related to connective tissue pathology, which can be associated with neuromuscular disorders, for example multiple lipomatosis, scleroderma, contractures, nephrogenic systemic sclerosis, and so on. This chapter shows examples of these deformities. Musculoskeletal deformities may lead to entrapment neuropathies.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1598.2-1599
Author(s):  
I. Rusu ◽  
L. Muntean ◽  
M. M. Tamas ◽  
I. Felea ◽  
L. Damian ◽  
...  

Background:Interstitial lung disease (ILD) is a common manifestation of connective tissue diseases (CTDs), and is associated with significant morbidity and mortality. Chest high-resolution computed tomography (HRCT) play an important role in the diagnosis of ILD and may provide prognostic information.Objectives:We aimed to characterize the clinical profile and chest HRCT abnormalities and patterns of patients diagnosed with CTDs and ILD.Methods:In this retrospective, observational study we included 80 consecutive patients with CTDs and ILD referred to a tertiary rheumatology center between 2015 and 2019. From hospital charts we collected clinical data, immunologic profile, chest HRCT findings. HRCT patterns were defined according to new international recommendations.Results:Out of 80 patients, 64 (80%) were women, with a mean age of 55 years old. The most common CTD associated with ILD was systemic sclerosis (38.8%), followed by polymyositis (22.5%) and rheumatoid arthritis (18.8%). The majority of patients had dyspnea on exertion (71.3%), bibasilar inspiratory crackles were present in 56.3% patients and 10% had clubbing fingers. Antinuclear antibodies (ANA) were present in 78.8% patients, and the most frequently detected autoantibodies against extractable nuclear antigen were anti-Scl 70 (28.8%), followed by anti-SSA (anti-Ro, 17.5%), anti-Ro52 (11.3%) and anti-Jo (7.5%). Intravenous cyclophosphamide therapy for 6-12 months was used in 35% of patients, while 5% of patients were treated with mycophenolate mofetil.The most frequent HRCT abnormalities were reticular abnormalities and ground glass opacity. Non-specific interstitial pneumonia (NSIP) was identified in 46.3% CTDs patients. A pattern suggestive of usual interstitial pneumonia (UIP) was present in 32.5% patients, mainly in patients with systemic sclerosis. In 21.3% patients the HRCT showed reticulo-nodular pattern, micronodules and other abnormalities, not diagnostic for UIP or NSIP pattern.Conclusion:Nonspecific interstitial pneumonia (NSIP) is the most common HRCT pattern associated with CTDs. Further prospective longitudinal studies are needed in order to determine the clinical and prognostic significance of various HRCT patterns encountered in CTD-associated ILD and for better patient management.References:[1]Ohno Y, Koyama H, Yoshikaua T, Seki S. State-of-the-Art Imaging of the Lung for Connective Tissue Disease (CTD). Curr Rheumatol Rep. 2015;17(12):69.[2]Walsh SLF, Devaraj A, Enghelmeyer JI, Kishi K, Silva RS, Patel N, et al. Role of imaging in progressive-fibrosing interstitial lung diseases. Eur Respir Rev. 2018;27(150)Disclosure of Interests:None declared


Rheumatology ◽  
2021 ◽  
Author(s):  
Guillaume LARID ◽  
Pier-Olivier DUBOE ◽  
Jean-Denis LAREDO ◽  
Elisabeth GERVAIS

Abstract A 70-year-old female patient treated with methotrexate for diffuse cutaneous systemic sclerosis (SSc) came up with mechanical pain over the left thumb for several months. SSc was diagnosed based on a clinical picture associating puffy fingers, skin sclerosis, wrist arthralgia, pulmonary hypertension, presence of antinuclear factors and antibodies against Topoisomerase-I. Her complaint was attributed to first carpometacarpal joint osteoarthritis and treated with orthesis, which did not provide pain relief after 5 months of regular use. Hand radiograph showed first carpometacarpal arthropathy with joint space narrowing and marked sclerosis of the first proximal metacarpal (A). MRI showed an area of very low signal intensity on T1- and T2-weighted images (B) within the proximal metacarpal, distal trapezium and medial joint recess surrounded by bone marrow edema. Mild peripheral enhancement was present after gadolinium injection. CT-scan (C) showed that the low signal intensity material visible at MRI consisted of calcium. These aspects are suggestive of scleroderma arthropathy rather than common first carpometacarpal osteoarthritis. Though involvement of the first carpometacarpal joint is long time known in SSc [1], it remains exceptional when looking at cross-sectional studies [2]. Carefully analyzing imaging exams is the key point in order not to miss this rare scleroderma feature.


2010 ◽  
Vol 42 (2) ◽  
pp. 262-267 ◽  
Author(s):  
Joshua Burns ◽  
Adam Scheinberg ◽  
Monique M. Ryan ◽  
Kristy J. Rose ◽  
Robert A. Ouvrier

2018 ◽  
Vol 59 (1) ◽  
pp. 122-125
Author(s):  
Amro M. Stino ◽  
Said Atway ◽  
Michael Anthony ◽  
David Kline ◽  
John T. Kissel

2021 ◽  
Vol 14 (8) ◽  
pp. e242851
Author(s):  
Deepti Avasthi ◽  
Jean Thomas ◽  
Leela Krishna Vamsee Miriyala ◽  
Salil Avasthi

Systemic sclerosis (SSc) is a rare connective tissue disorder with a complex pathogenesis involving vascular dysfunction, small vessel proliferation as well as alterations of innate and adaptive immunity. Gastrointestinal (GI) involvement in SSc is almost universal and affects nearly 90% of the patients. Of all the GI manifestations, 30%–75% are oesophageal abnormalities, including gastro-oesophageal reflux disease, reflux oesophagitis and Barret’s oesophagus. The incidence of gastric manifestations is about 22% with a common presentation of gastric antral vascular ectasia (GAVE). However, autoimmune atrophic gastritis (AIG) is not a known manifestation of SSc. Our case has a unique presentation of the coexistence of GAVE and AIG. We have conducted a thorough literature review to study a possible association of AIG and SSc and understand the pathology of SSc.


2021 ◽  
pp. 245-252
Author(s):  
David Howell

This chapter describes the anaesthetic management of the patient with those musculoskeletal disorders which are relevant to anaesthetic practice. Topics covered include rheumatoid arthritis, ankylosing spondylitis, systemic lupus erythematosus (SLE); systemic sclerosis; scoliosis and achondroplasia. For each topic, pre-operative investigation and optimisation, treatment, and anaesthetic management are described.


1965 ◽  
Vol 23 (2) ◽  
pp. 91-94 ◽  
Author(s):  
Eros Abrantes Erhart ◽  
Cecil J. Rezze

The long-time severed and isolated intermediate and distal nerve segments, maintained undisturbed in their connective tissue bed, completely separated from each other and from the proximal stump, are repopulated by nerve-fibres which origin is still unknown. The extremities of such nerve segments present complex nervous nodules capped by fibrous tissue, neuroma-like structures.


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