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Scleroderma
See also in: Nail and Distal Digit
Other Resources UpToDate PubMed

Scleroderma

See also in: Nail and Distal Digit
Contributors: Jeffrey M. Cohen MD, Vivian Wong MD, PhD, Belinda Tan MD, PhD, Jeffrey P. Callen MD, FACP, MAAD, MACR, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

This summary discusses scleroderma in adults. Scleroderma in children is addressed separately.

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:
  1. 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.
  2. 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.
  3. Systemic sclerosis sine scleroderma – Raynaud phenomenon and systemic involvement without skin sclerosis.
The subsets are defined by the degree of skin involvement, so the classification does not predict systemic organ disease. Keloidal scleroderma is a very rare cutaneous presentation of scleroderma, in which keloidal plaques develop in normal or sclerotic skin. It is thought that the inflammation that accompanies the development of scleroderma initiates a keloidal response in those who are predisposed to keloid formation. The systemic sclerosis overlap syndrome is characterized by features of one of the scleroderma subsets with those of another autoimmune disease (eg, lupus erythematosus, dermatomyositis, Sjögren syndrome, and/or rheumatoid arthritis).

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

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Diagnostic Pearls

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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
  • AL amyloidosis
  • Bleomycin toxicity
  • Radiation dermatitis
  • Onchocerciasis can produce similar "salt-and-pepper" skin changes (consider if a patient is from an endemic area).
  • Vitiligo
Differential diagnosis of keloidal scleroderma:
  • Scar
  • Keloid
  • Sarcoidosis – Can localize in scars and form nodules clinically similar to keloids.
  • Foreign body granuloma – Should be associated with a history of trauma to the site.
  • Lobomycosis (keloidal blastomycosis) – Infection with Lacazia loboi.
  • Dermatofibroma
  • Dermatofibrosarcoma protuberans

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:11/27/2022
Last Updated:01/05/2023
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Patient Information for Scleroderma
Contributors: Janet Lubov BSN, RN, Chesahna Kindred MD
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Scleroderma
See also in: Nail and Distal Digit
A medical illustration showing key findings of Scleroderma (General Manifestations) : Fatigue, Creatinine elevated, Insomnia, Joint stiffness, Muscle weakness, Proteinuria, Sclerodactyly, Arthralgia, Dysphagia, Hardened skin
Clinical image of Scleroderma - imageId=272375. Click to open in gallery.  caption: 'Bound-down skin over the digits with scars and surrounding erythema over the knuckles.'
Bound-down skin over the digits with scars and surrounding erythema over the knuckles.
Copyright © 2024 VisualDx®. All rights reserved.