Scleroderma pathophysiology

Scleroderma Microchapters
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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 which includes:
  • Autoantibodies
  • Vasculopathy
  • Fibrosis
• 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

Genetics

• [Disease name] is transmitted in [mode of genetic transmission] pattern.
• Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
• The development of [disease name] is the result of multiple genetic mutations.

Associated Conditions

Conditions that are associated with scleroderma include:

• Nephrogenic sclerosing fibrosis
• Scleroderma diabeticorum
• Scleromyxedema
• Erythromyalgia
• Porphyria
• Lichen sclerosis
• Graft versus host disease
• Diabetic cheiroarthropathy

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].