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What is Scleroderma? Scleroderma is a chronic autoimmune disorder of connective tissue. There are two primary forms, localized scleroderma and systemic sclerosis. But the term is most often used to refer to the systemic disease involving multiple organ systems.
Scleroderma is a rare disorder, and both forms are more likely to affect women. However, while women are at greater risk and have an earlier onset, men with systemic sclerosis suffer a more severe presentation with more cutaneous, lung, heart, and renal involvement. Those of African American descent present with the disease earlier and are more likely to have severe symptoms.
The onset of the disease is most often seen between 30 and 60 years but may occur at any age.
What causes Scleroderma?
The interactions between three contributing mechanisms lead to the development of scleroderma.
1. Inflammation with abnormal autoimmune dysfunction that causes endothelial damage.
2. Vasoconstriction and vascular remodeling lead to the breakdown of small vessels caused by surrounding oxidative stress, increased endothelin, and nitric oxide.
3. Activation of fibroblast from the downstream effects of endothelial damage leads to abnormal collagen deposition and fibrosis.
Signs and Symptoms of Scleroderma
Localized scleroderma is usually contained to the skin affected and its underlying tissue. The initial signs include edema, which progresses to thickening of the tissue, and finally, an atrophic scar. It has two primary forms:
- Morphea appears mainly when the onset is in adulthood. It looks like waxy patches in various shapes, sizes, and colors.
- Linear scleroderma usually presents in childhood and is characterized by thick bands on the face, scalp, or extremities.
Systemic sclerosis (SSc) has several subtypes.
- Limited cutaneous systemic sclerosis (lcSSc) affects only a few organ systems. The cutaneous manifestations are usually limited to the extremities, face, and neck. In addition, this form is often characterized by symptoms of CREST syndrome:
Raynaud’s Phenomenon (most common and severe)
Esophageal dysmotility, often presenting as GERD
- Diffuse cutaneous systemic sclerosis (dcSSc) is characterized by a more widespread disease. Cutaneous changes occur proximally and more rapidly, and there is also a higher risk of rapid progression to lung fibrosis, heart disease, and renal involvement. Gastrointestinal dysfunction can also lead to dysphagia, GERD, and malabsorption.
- Systemic sclerosis sine scleroderma presents with systemic symptoms, such as Raynaud’s phenomenon and pulmonary hypertension. These patients also have autoantibodies specific to systemic sclerosis, but no cutaneous involvement exists.
- Systemic sclerosis with overlap syndrome involves symptoms and characteristics of other rheumatic disorders, such as dermatomyositis, SLE, and RA, in a patient diagnosed with SSc.
The cutaneous manifestations of scleroderma may vary in location depending on the subtype but are significant features of the disease as they are often the initial signs and allow for monitoring of the progress of the disease. These changes often include:
- Thickening and hardening
- Dry skin
- Changes in pigmentation, with possible “salt and pepper” appearance
Source: Cutolo, M., Soldano, S., & Smith, V. (2019). Pathophysiology of systemic sclerosis: current understanding and new insights. Expert Review of Clinical Immunology, 15(7), 753–764. https://doi.org/10.1080/1744666x.2019.1614915