Osmosis from Elsevier - Scleroderma: Pathology review
Scleroderma, also known as systemic sclerosis, is a rare autoimmune disorder where normal tissue is replaced by dense collagen, affecting skin, blood vessels, and internal organs. The video explains two main types: diffuse cutaneous systemic scleroderma, which progresses rapidly and involves internal organs early, and limited cutaneous systemic scleroderma (formerly CREST syndrome), which progresses slower and affects a smaller area of skin. The condition is more common in women over 50 and can be triggered by genetic predisposition and environmental factors. Symptoms include tight, shiny skin, Raynaud's phenomenon, esophageal dysfunction, and pulmonary issues. Diagnosis is based on clinical symptoms and antibody tests, with treatment focusing on immunosuppressants and symptom relief. The video also presents two case studies: Rosa, with diffuse scleroderma, and Haruki, with limited scleroderma, highlighting the differences in symptoms and diagnostic markers.
Key Points:
- Scleroderma is an autoimmune disorder causing skin and organ fibrosis.
- Two types: diffuse (rapid progression, early organ involvement) and limited (slower progression, less severe).
- Common in women over 50; symptoms include skin thickening, Raynaud's, and esophageal issues.
- Diagnosis involves clinical symptoms and specific antibody tests.
- Treatment includes immunosuppressants and medications for symptom management.
Details:
1. 👩⚕️ Patient Cases of Scleroderma
- Rosa, a 35-year-old woman, presents with puffy hands and feet, symptoms persisting for 4 months, and examination shows stiff, shiny skin on limbs and trunk with decreased markings, indicative of scleroderma.
- Additional symptoms include sclerodactyly, digital ulceration, and Raynaud's phenomenon, common in scleroderma patients.
- Pulmonary function tests show a restrictive lung disease pattern, highlighting the systemic nature of scleroderma.
- Management includes immunosuppressive therapy and routine monitoring of lung function to address potential complications, improving patient outcomes.
- Background: Scleroderma is an autoimmune condition characterized by skin thickening and can lead to severe systemic complications if not managed effectively.
2. 🔬 Understanding Scleroderma Pathology
- A 65-year-old patient, Herooqi, reported disappearance of facial wrinkles and worsening acid reflux over 6 months, indicative of scleroderma symptoms.
- Examination revealed Raynaud's phenomenon and sclerodactyly, with tight, shiny, and smooth skin on the face and arms, confirming scleroderma.
- Pulmonary function tests were normal, but blood tests showed increased serum levels of anti-scl-70 and RNA polymerase III antibodies, which are markers of scleroderma.
- Scleroderma, or systemic sclerosis, is characterized by the replacement of normal tissue with thick, dense collagen affecting skin, blood vessels, and internal organs.
- Treatment typically involves immunosuppressants and vasodilators to manage symptoms and slow progression.
- Prognosis varies greatly depending on organ involvement, with pulmonary hypertension being a significant risk factor for mortality.
3. 🧬 Pathophysiology of Scleroderma
- Scleroderma consists of two main types: diffuse cutaneous systemic scleroderma and limited cutaneous systemic scleroderma, historically known as CREST syndrome.
- The pathogenesis involves a combination of genetic predisposition and external triggers such as cytomegalovirus, parvovirus B19, silica dust, organic solvents, vinyl chloride, and certain drugs like cocaine, bleomycin, and pentostatin.
- Initial damage occurs to endothelial cells in small blood vessels, leading to non-inflammatory vasculitis. This triggers adhesion molecule expression, attracting T-cells which release cytokines, inviting more immune cells and causing further damage.
- Fibroblasts, activated by this immune response, produce excess collagen, leading to a rigid matrix and tissue fibrosis, which is the hallmark of scleroderma.
- The fibrosis, coupled with blood vessel damage, reduces blood flow and results in ischemic tissue damage.
4. 📋 Symptoms and Clinical Manifestations
- In scleroderma, B cells activate and produce specific anti-nuclear antibodies, such as antiscleroderma 70, anti-RNA polymerase 3, and anti-centromere antibodies.
- The condition predominantly affects women, with a threefold higher occurrence in women over 50 years old compared to men.
- Diffuse cutaneous systemic scleroderma is characterized by rapid progression, early visceral involvement, and skin changes that begin in the fingers and spread to other areas.
- Skin manifestations include swelling and fibrosis, leading to tight, shiny skin and deformities like sclerodactyly, which can cause claw-like hand deformities.
- Facial changes involve microstomia (narrowing of the mouth) and a beaked nose, with potential calcinosis cutis due to calcium deposits in the skin.
- Raynaud's phenomenon is frequent, with characteristic color changes in fingers due to blood vessel alterations, potentially leading to digital ulcers.
- Vascular changes also manifest as telangiectasias near the skin surface or mucous membranes.
- Joint involvement results in non-specific symptoms such as pain, stiffness, and restricted movement.
- Gastrointestinal issues include esophageal dysmotility and lower esophageal sphincter incompetence, attributed to muscle atrophy and fibrosis.