Osteopetrosis in a Patient of Systemic Sclerosis Sine Scleroderma: A Rare Association

Pati, Sanghamitra; Raja, P. Vigneshwara; Behera, Ajoy Kumar; Ranganath, T G; Bodhey, Narendra Kuber

doi:10.1055/s-0041-1740506

Cited by 2 publications

(2 citation statements)

References 11 publications

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“…In particular, it is classified further into articular and non‐articular, as the former type leads to arthralgia, inflammatory arthritis, psoriatic arthritis, osteogenic/degeneration, and erosive or non‐erosive arthritis. At the same time, the latter induces shortening or loss of digits 24–29 …”

Section: Discussionmentioning

confidence: 99%

Neurological, cardiac, musculoskeletal, and renal manifestations of scleroderma along with insights into its genetics, pathophysiology, diagnostic, and therapeutic updates

Prajjwal,

Marsool,

Yadav

et al. 2024

Health Science Reports

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BackgroundScleroderma, also referred to as systemic sclerosis, is a multifaceted autoimmune condition characterized by abnormal fibrosis and impaired vascular function. Pathologically, it encompasses the persistent presence of inflammation, abnormal collagen buildup, and restructuring of blood vessels in various organs, resulting in a wide range of clinical symptoms. This review incorporates the most recent scientific literature on scleroderma, with a particular emphasis on its pathophysiology, clinical manifestations, diagnostic approaches, and treatment options.MethodologyA comprehensive investigation was carried out on numerous databases, such as PubMed, MEDLINE, Scopus, Web of Science, and Google Scholar, to collect pertinent studies covering diverse facets of scleroderma research.ResultsScleroderma presents with a range of systemic manifestations, such as interstitial lung disease, gastrointestinal dysmotility, Raynaud's phenomenon, pulmonary arterial hypertension, renal complications, neurological symptoms, and cardiac abnormalities. Serological markers, such as antinuclear antibodies, anti‐centromere antibodies, and anti‐topoisomerase antibodies, are important for classifying diseases and predicting their outcomes.DiscussionThe precise identification of scleroderma is crucial for promptly and correctly implementing effective treatment plans. Treatment approaches aim to improve symptoms, reduce complications, and slow down the progression of the disease. An integrated approach that combines pharmacological agents, including immunosuppressants, endothelin receptor antagonists, and prostanoids, with nonpharmacological interventions such as physical and occupational therapy is essential for maximizing patient care.ConclusionThrough the clarification of existing gaps in knowledge and identification of emerging trends, our goal is to improve the accuracy of diagnosis, enhance the effectiveness of therapeutic interventions, and ultimately enhance the overall quality of life for individuals suffering from scleroderma. Ongoing cooperation and creative research are necessary to advance the field and achieve improved patient outcomes and new therapeutic discoveries.

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Section: Discussionmentioning

confidence: 99%

Neurological, cardiac, musculoskeletal, and renal manifestations of scleroderma along with insights into its genetics, pathophysiology, diagnostic, and therapeutic updates

Prajjwal,

Marsool,

Yadav

et al. 2024

Health Science Reports

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“…To diagnose ssSSc, a rare subtype of SSc, the presence of the following three symptoms is necessary, along with the absence of typical skin thickening: (A) damaged nail fold capillaries or Raynaud's phenomenon; (B) a positive result for ANA, typically accompanied by a nucleolar or speckled immunofluorescence assay; and (C) involvement of at least one internal organ (e.g., ILD, kidney failure, esophageal dysmotility, or pulmonary hypertension) in the absence of an alternative rheumatologic diagnosis. 7,8 Therefore, in addition to chest imaging, clinical presentation, and the administration of nail fold capillaroscopy, positive serum ANA antibodies, echocardiography, and esophageal assessment are crucial for enabling the diagnosis of ssSSc. 9 Kucharz reviewed articles related to ssSSc and observed that the female-to-male ratio in ssSSc patients is approximately 9:1, based on studies involving over 1500 patients, which is similar to the overall SSc patient population.…”

Section: Discussionmentioning

confidence: 99%

A case report of clubbing as the initial sign of systemic sclerosis sine scleroderma: A rare possible presentation

Amirpour,

Ghorbani,

Ghadirzadeh

et al. 2023

Clinical Case Reports

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Key Clinical MessageEven in the absence of characteristic cutaneous symptoms of scleroderma, systemic sclerosis should be considered in the differential diagnosis of patients initially diagnosed with idiopathic interstitial lung disease.AbstractSystemic sclerosis (SSc) is an idiopathic connective tissue disorder characterized by multisystem involvement. Although skin thickening is a hallmark manifestation of SSc, a subset known as systemic sclerosis sine scleroderma (ssSSc) presents with internal organ involvement and positive serologic markers in the absence of significant cutaneous manifestations. We report the case of a 36‐year‐old Iranian woman who presented with clubbing as an initial symptom of ssSSc. Notably, clubbing as the sole initial sign of the disease has not been previously reported. Timely diagnosis of ssSSc is crucial to facilitate appropriate treatment and prevent disease progression. Physicians should adopt a comprehensive approach when evaluating patients presenting with limited clinical features, as they might be indicative of underlying ssSSc.

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Osteopetrosis in a Patient of Systemic Sclerosis Sine Scleroderma: A Rare Association

Cited by 2 publications

References 11 publications

Neurological, cardiac, musculoskeletal, and renal manifestations of scleroderma along with insights into its genetics, pathophysiology, diagnostic, and therapeutic updates

Neurological, cardiac, musculoskeletal, and renal manifestations of scleroderma along with insights into its genetics, pathophysiology, diagnostic, and therapeutic updates

A case report of clubbing as the initial sign of systemic sclerosis sine scleroderma: A rare possible presentation

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