Scleroderma
See also in: Nail and Distal DigitAlerts and Notices
Synopsis
Scleroderma, or progressive systemic sclerosis, is an autoimmune connective tissue disease that involves sclerotic changes of the skin and may involve internal organs. While the etiology remains unknown, the disease is characterized by autoantibody production, collagen deposition, and vascular dysfunction. The disease is observed in all ages and is slightly more common in Black individuals and 3-4 times more common in women. The age of onset is usually between 30 and 50 years.
Scleroderma can affect the connective tissue of any organ, including the skin, gastrointestinal tract, lungs, kidneys, joints, muscles, heart, and blood vessels. Pulmonary disease is the leading cause of mortality. Additional common clinical features include esophageal dysfunction, primarily characterized by dysmotility, arthralgias, and Raynaud phenomenon. Less common manifestations include hypertensive renal crisis, pulmonary hypertension or interstitial lung disease, and cardiomyopathy.
There are 3 major clinical subsets of scleroderma:
- Limited cutaneous systemic sclerosis – distal skin sclerosis, Raynaud phenomenon, frequent severe late-stage complications such as pulmonary hypertension and gastrointestinal involvement. CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) refers to a subset of patients with limited scleroderma.
- Diffuse cutaneous systemic sclerosis – proximal extremity or trunk skin sclerosis, Raynaud phenomenon of shorter duration, high risk of renal crisis, and cardiac and lung fibrosis.
- Systemic sclerosis sine scleroderma – Raynaud phenomenon and systemic involvement without skin sclerosis.
Black individuals tend to have an earlier onset (aged 35-44 years compared with 45-55 years for all others), a more severe course, and increased mortality. This may be due to their likelihood of having diffuse, rather than limited, cutaneous systemic scleroderma. In addition, lung function is often worse. There is a greater prevalence of anti-topoisomerase I antibodies, anti-RNP, and anti-Ro antibodies in these patients, although the frequency of anticentromere antibodies is less compared with White individuals.
There are reports in the literature of drug-induced scleroderma. Most reports point to a sclerodermalike disease rather than true systemic scleroderma. See drug-induced sclerodermoid reactions for further details.
Codes
ICD10CM:M34.9 – Systemic sclerosis, unspecified
SNOMEDCT:
89155008 – Systemic sclerosis
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
- Generalized morphea – Asymmetric induration, no Raynaud phenomenon, no systemic involvement.
- Scleredema – ANA negative, no Raynaud phenomenon, no systemic involvement.
- Scleromyxedema – ANA and anticentromere negative, no Raynaud phenomenon, no sclerodactyly.
- Generalized myxedema
- Chronic graft-versus-host disease – ANA negative, vascular abnormalities such as Raynaud phenomenon absent.
- Eosinophilic fasciitis – ANA negative, no Raynaud phenomenon, no facial involvement.
- Nephrogenic systemic fibrosis – Assess for recent history of radiologic imaging with gadolinium-based intravenous contrast in patients with renal insufficiency or a renal transplant; ANA negative, no sclerodactyly, no Raynaud phenomenon.
- Stiff-skin syndrome – Characteristic sparing of the hands and feet, develops during early childhood, systemic involvement is rare.
- Porphyria cutanea tarda
- Phenylketonuria
- Polyvinyl chloride exposure – ANA negative, cutaneous changes reverse with cessation of exposure.
- Carcinoid syndrome
- Cutaneous T-cell lymphoma
- Amyloidosis
- Bleomycin toxicity
- Radiation effects
- Onchocerciasis can produce similar "salt-and-pepper" skin changes (consider if a patient is from an endemic area).
- Vitiligo
- Hypertrophic scar
- Keloid
- Sarcoidosis – Can localize in scars and form nodules clinically similar to keloids.
- Foreign body reaction – Should be associated with a history of trauma to the site.
- Lobomycosis (keloidal blastomycosis) – Infection with Lacazia loboi.
- Dermatofibroma
- Dermatofibrosarcoma protuberans
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:11/27/2022
Last Updated:01/05/2023
Last Updated:01/05/2023
Patient Information for Scleroderma
Overview
Scleroderma is a rare, chronic autoimmune disorder that can affect the skin, digestive tract, blood vessels, and internal organs. Affected skin develops a hard and leathery (indurated) feel that may involve the hands, feet, and face and spread up the arms and legs to involve the trunk. As the condition progresses, the involved skin becomes bound down and skin darkening can begin to appear.Although the cause of scleroderma is not fully understood, current research shows that genetic and environmental factors contribute to the risk of developing this condition.
Scleroderma generally progresses slowly with only skin (localized) symptoms, while systemic symptoms (affecting the whole body) can result in heart, lung, and kidney problems. Systemic symptoms can increase blood pressure, impair food absorption, and even result in esophageal cancer.
Systemic scleroderma may be limited and diffuse, with diffuse disease more prominent in Black individuals. In limited disease, skin thickening affects the face, lower arms, hands, and fingers. In diffuse disease, skin thickening affects large areas of skin including the chest and the upper arms and legs.
Musculoskeletal involvement in systemic scleroderma may cause functional disabilities, especially in the hands.
The outlook for patients with systemic sclerosis has improved over the past two decades.
Who’s At Risk
Scleroderma has a high prevalence among women aged 30 to 50, American Indians (specifically of the Choctaw people), and African Americans. African Americans are also at higher risk for earlier onset of disease, organ involvement, and mortality (death).Signs & Symptoms
Affected skin is hard and leathery (indurated). This may involve the hands, feet, and face and spread up the arms and legs to involve the trunk as well.Other skin changes include loss of pigment in the skin (depigmentation); fingers and toes turning white or blue when exposed to cold temperatures (Raynaud phenomenon), especially in smokers; calcium deposits under the skin (calcinosis); and small, dilated blood vessels near the surface of the skin (telangiectasias).
Self-Care Guidelines
- Skin care may include moisturizing creams for dry skin and antibiotic ointments for infected ulcerations and skin.
- Patients are strongly advised to stop smoking, avoid exposure to cold temperatures to prevent Raynaud phenomenon, and avoid using eye drops containing beta-blockers.
- Good oral hygiene is important because gum disease is common in scleroderma.
- Acid reflux from the stomach into the esophagus may be partially controlled by dietary regulation. Fats, spices, tea, coffee, and alcohol should be avoided.
- Eating several small, frequent meals per day and sitting upright for at least 2 hours after eating can decrease the work of the esophagus and aid in the digestive process.
When to Seek Medical Care
Be mindful of any new developments and progression of the tautness and thickening of your skin because these symptoms may develop into functional disabilities by limiting range of motion. Be mindful of changes to swallowing that may worsen and alter food intake and dental care.Treatments
Diagnosis of scleroderma is made with a variety of tests, which include antibody tests (blood tests), biopsy of the skin, and imaging studies of affected internal organs.Treatments your physician may prescribe:
- For skin changes: Corticosteroids, mycophenolate mofetil, methotrexate.
- For high blood pressure: Captopril, enalapril, other angiotensin-converting enzyme inhibitors.
- Reducing calcium deposits under the skin (calcinosis): Corticosteroids, laser treatment, warm water soak, and surgical interventions in rare cases.
- For Raynaud phenomenon: Vasodilators, including nifedipine, diltiazem, verapamil, and/or prazosin, work by dilating (widening) blood vessels.
- Treating and managing joint pain and arthritis: Anti-inflammatory drugs such as aspirin, indomethacin, and naproxen, as well as corticosteroids.
- Treating and managing pulmonary hypertension: Epoprostenol sodium and bosentan are some treatment options, along with supplemental oxygen, as necessary.
- Treating inflammation of the membranes of the heart (pericarditis): Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids are typically used to treat the symptoms associated with pericarditis caused by scleroderma.
- Treating inflammation or ulceration (tear) of the esophagus and/or gastrointestinal tract: H2 blockers such as cimetidine, famotidine, and omeprazole.
- Treating the symptoms associated with gastrointestinal dysmotility: Metoclopramide is used to treat problems, including issues with the muscular contractions of the stomach wall used to move or squeeze contents forward.
Scleroderma
See also in: Nail and Distal Digit