Scleroderma

In short, scleroderma is an autoimmune disease targeting vasculature, fibroblasts, and the immune system, causing excessive production of extracellular matrix by fibroblasts in vasculature as well as skin and other organs. The underlying cause for the genesis of this disease is not well understood (1)

Scleroderma is a spectrum of disease, which includes Localized Scleroderma, Systemic Scleroderma (SSc), and Scleroderma mimics. SSc can be further classified into “Diffuse cutaneous” and “Limited Cutaneous”.

Systemic Scleroderma (SSc)

CREST Syndrome

  • Variant of Limited Cutaneous SSc
  • Calcinosis
    • Deposition of calcific nodules into the subcutaneous tissue, pathophysiology not well described (6)
  • Raynaud Phenomenon
    • “Flag sign”: Digits become white as blood flow is cut off, then blue as they become cyanotic, and then red/hyperemic as blood flow is restored
    • Treat with calcium channel blockers (i.e. amlodipine, nifedipine)
  • Esophageal Dysmotility
    • Disruptions of esophageal wall smooth muscle result in difficulty swallowing and potential gastroesophageal reflux disease
  • Sclerodactyly
    • Skin overlying fingers becomes thin and tight. Stiffness in the digits may occur. Occupational and Physical Therapy as well as topical/PO Vitamin D may help alleviate symptoms (7)
  • Telangiectasias
    • Dilated capillaries

Localized Scleroderma (LoS)

Linear

  • Involves a linear or band-like portion of skin, most commonly on the legs and arms
    • En Coup de Sabre: French for “A cut from the sword“. This sub-type appears as a linear white lesion involving the face and scalp, appearing as a white line. May result in tissue atrophy of the affected area, potentially including the tongue and mouth (8)

Morphea

  • Well-defined fibrotic plaque
  • Lesions start as an erythematous, edematous change with a center that changes color to white or yellow (9)

Management Overview

Management focuses on symptomatic treatment of the organs affected by scleroderma (i.e. treating GERD, pulmonary hypertension, or Raynaud’s phenomenon)

Systemic Sclerosis

  • Diffuse skin involvement OR severe organ involvement: Immunosuppressants (Generally, glucocorticoids and/or cyclophosphamide depending on which organs are affected, though more immunosuppressants are being trialed) (10)
  • For ILD: Mycophenolate mofetil may be used as first line in place of glucocorticoids or cyclophosphamide

Localized Sclerosis

  • No widely agreed-upon therapy, but may include D-penicillamine, vitamin D, corticosteroids, methotrexate, cyclosporine, interferon, or phototherapy (11)

References

  1. Pattanaik, D., Brown, M., Postlethwaite, B., & Postlethwaite, A. (2015, June 8). Pathogenesis of Systemic Sclerosis. Retrieved January 23, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459100/
  2. Clements, P., MD, & Kafaja, S., MD. (2019, January). SYSTEMIC SCLEROSIS: Diffuse and Limited. Retrieved December 22, 2021, from https://www.scleroderma.org/site/DocServer/systemic.pdf?docID=325
  3. Solomon, J., Olson, A., Fischer, A., Bull, T., Brown, K., & Raghu, G. (2013, March 1). Scleroderma lung disease. Retrieved January 23, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103193/
  4. Adigun, R. (2020, August 10). Systemic Sclerosis. Retrieved January 23, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK430875/
  5. Fischer, A., Patel, N., & Volkmann, E. (2019, December 9). Interstitial Lung Disease in Systemic Sclerosis: Focus on Early Detection and Intervention. Retrieved January 23, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6910104/
  6. Düzgün, N. (2017, December). Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. Retrieved January 23, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741348/
  7. CREST. (n.d.). Retrieved January 22, 2021, from https://www.aocd.org/page/CREST
  8. Falanga, V., MD. (2015, May). Localized Scleroderma. Retrieved January 22, 2021, from https://www.scleroderma.org/site/DocServer/Localized.pdf?docID=317
  9. Morphea. (n.d.). Retrieved January 22, 2021, from https://www.aocd.org/page/Morphea
  10. Manno, R., & Boin, F. (2010, November). Immunotherapy of systemic sclerosis. Retrieved January 23, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059511/
  11. Careta, M., & Romiti, R. (2015). Localized scleroderma: Clinical spectrum and therapeutic update. Retrieved January 23, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323700/

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