Scleroderma pathophysiology: Difference between revisions
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*Graft-versus-host disease<ref name="pmid9554859">{{cite journal |vauthors=Artlett CM, Smith JB, Jimenez SA |title=Identification of fetal DNA and cells in skin lesions from women with systemic sclerosis |journal=N. Engl. J. Med. |volume=338 |issue=17 |pages=1186–91 |date=April 1998 |pmid=9554859 |doi=10.1056/NEJM199804233381704 |url=}}</ref> | *Graft-versus-host disease<ref name="pmid9554859">{{cite journal |vauthors=Artlett CM, Smith JB, Jimenez SA |title=Identification of fetal DNA and cells in skin lesions from women with systemic sclerosis |journal=N. Engl. J. Med. |volume=338 |issue=17 |pages=1186–91 |date=April 1998 |pmid=9554859 |doi=10.1056/NEJM199804233381704 |url=}}</ref> | ||
*Mixed connective tissue disease | *Mixed connective tissue disease | ||
*Malignancy<ref name="pmid29264402">{{cite journal |vauthors=Shah AA, Casciola-Rosen L |title=Mechanistic and clinical insights at the scleroderma-cancer interface |journal=J Scleroderma Relat Disord |volume=2 |issue=3 |pages=153–159 |date=2017 |pmid=29264402 |pmc=5734659 |doi=10.5301/jsrd.5000250 |url=}}</ref> | *Malignancy<ref name="pmid29264402">{{cite journal |vauthors=Shah AA, Casciola-Rosen L |title=Mechanistic and clinical insights at the scleroderma-cancer interface |journal=J Scleroderma Relat Disord |volume=2 |issue=3 |pages=153–159 |date=2017 |pmid=29264402 |pmc=5734659 |doi=10.5301/jsrd.5000250 |url=}}</ref><ref name="pmid26352736">{{cite journal |vauthors=Shah AA, Casciola-Rosen L |title=Cancer and scleroderma: a paraneoplastic disease with implications for malignancy screening |journal=Curr Opin Rheumatol |volume=27 |issue=6 |pages=563–70 |date=November 2015 |pmid=26352736 |pmc=4643720 |doi=10.1097/BOR.0000000000000222 |url=}}</ref> | ||
==Gross Pathology== | ==Gross Pathology== | ||
Revision as of 19:22, 5 April 2018
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Scleroderma Microchapters |
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Scleroderma pathophysiology On the Web |
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Risk calculators and risk factors for Scleroderma pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2]
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Pathogenesis
- Scleroderma, also known as systemic sclerosis (SSc) is an autoimmune connective tissue disease.[1][2]
- Important features of scleroderma include:[3]
- Production of autoantibodies against various cellular antigens
- Small vessel vasculopathy
- Fibrosis of the skin and internal organs
- Excess of collagen deposition in the skin and internal organs
- Features of Scleroderma include:
- Sclerodactyly (thickened skin of the fingers) is common
- Extensive skin fibrosis may be present
- Raynaud phenomenon
- Esophageal dysmotility
- Pulmonary arterial hypertension
- Cardiac involvement
- Interstitial lung disease
- Inflamatory arthritis
- Digital ulcers
- There is an association between diagnosis of cancer and onset of scleroderma:[4]
- Patients with RNA polymerase III autoantibodies are at high risk for cancer associated scleroderma
- Patients with an older age of onset are also at risk for cancer associated scleroderma
- Screening for malignancy is recommended in these patients at risk for malignancy.
Genetics
Genetics associated with the development of scleroderma include:[5]
- Scleroderma occurs in a sporadic pattern in the general population.
- Variations in human leukocyte antigen (HLA) genes can predispose an individual to developing scleroderma.
- Other genes that increase the risk of developing scleroderma include:
- IRF5
- STAT4
- Genetic variation in the IRF5 gene predisposes an individual to developing diffuse cutaneous systemic scleroderma.
- Genetic variation in the STAT4 gene predisposes an individual to developing limited cutaneous systemic scleroderma.
Associated Conditions
Conditions that are associated with scleroderma include:[2]
- Nephrogenic sclerosing fibrosis
- Scleroderma diabeticorum
- Scleromyxedema
- Erythromyalgia
- Porphyria
- Lichen sclerosis
- Diabetic cheiroarthropathy
- Systemic lupus erythematosus (SLE)
- Rheumatoid arthritis
- Polymyositis
- Sjögren's syndrome
- Graft-versus-host disease[6]
- Mixed connective tissue disease
- Malignancy[7][4]
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Gabrielli A, Avvedimento EV, Krieg T (May 2009). "Scleroderma". N. Engl. J. Med. 360 (19): 1989–2003. doi:10.1056/NEJMra0806188. PMID 19420368.
- ↑ 2.0 2.1 Pope JE, Johnson SR (August 2015). "New Classification Criteria for Systemic Sclerosis (Scleroderma)". Rheum. Dis. Clin. North Am. 41 (3): 383–98. doi:10.1016/j.rdc.2015.04.003. PMID 26210125.
- ↑ Barnes J, Mayes MD (March 2012). "Epidemiology of systemic sclerosis: incidence, prevalence, survival, risk factors, malignancy, and environmental triggers". Curr Opin Rheumatol. 24 (2): 165–70. doi:10.1097/BOR.0b013e32834ff2e8. PMID 22269658.
- ↑ 4.0 4.1 Shah AA, Casciola-Rosen L (November 2015). "Cancer and scleroderma: a paraneoplastic disease with implications for malignancy screening". Curr Opin Rheumatol. 27 (6): 563–70. doi:10.1097/BOR.0000000000000222. PMC 4643720. PMID 26352736.
- ↑ "Systemic scleroderma - Genetics Home Reference".
- ↑ Artlett CM, Smith JB, Jimenez SA (April 1998). "Identification of fetal DNA and cells in skin lesions from women with systemic sclerosis". N. Engl. J. Med. 338 (17): 1186–91. doi:10.1056/NEJM199804233381704. PMID 9554859.
- ↑ Shah AA, Casciola-Rosen L (2017). "Mechanistic and clinical insights at the scleroderma-cancer interface". J Scleroderma Relat Disord. 2 (3): 153–159. doi:10.5301/jsrd.5000250. PMC 5734659. PMID 29264402.