Scleroderma: Pathology review

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Scleroderma: Pathology review



Scleroderma: Pathology review

USMLE® Step 1 questions

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USMLE® Step 1 style questions USMLE

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A 41-year-old woman comes to her outpatient provider for evaluation of fatigue and dyspnea on exertion that started five months ago. The patient previously enjoyed biking on the weekends, but she has been unable to do so because of her symptoms. Past medical history is notable for seasonal allergies. She is currently not taking any medications. In the office, her temperature is 37.1°C (98.8°F), blood pressure is 128/88 mmHg, and pulse is 73/min. Physical examination is notable for diffuse skin thickening and telangiectasias. On cardiac examination, there is a loud S2 at the left upper sternal border. A chest x-ray is ordered, and the results are as follows:  

Image reproduced from Radiopedia 

Which of the following findings is most likely to be seen in this patient?  


While doing your rounds, you see Rosa, a 35-year-old woman who has complained of puffy hands and feet for the past 4 months.

On examination, the skin on the limbs and trunk is stiff and shiny, with decreased markings.

Other important findings are sclerodactyly, Raynaud's phenomenon, and digital ulceration.

Pulmonary function tests were performed as well, and they showed a pattern suggestive of restrictive lung disease.

Then you see Haruki, a 65-year old who says that he noticed skin changes recently, stating that the wrinkles on his face have disappeared.

He also said that his acid reflux got worse in the past 6 months.

On examination, his hands show Raynaud's phenomenon and sclerodactyly.

The skin on his face and the arms below the elbow were tight, shiny, smooth, with no wrinkles.

Pulmonary function tests are normal.

Blood tests were performed in both cases, showing increased serum levels of anti-Scl 70 and and-RNA polymerase III antibodies in Rosa, and increased anti-centromere antibodies in Haruki.

Now, both seem to have scleroderma.

Scleroderma refers to systemic sclerosis, a rare autoimmune disorder in which normal tissue is replaced by thick, dense collagen.

It affects the skin, blood vessels and internal organs.

Now, there are two main types of scleroderma, diffuse cutaneous systemic scleroderma; and limited cutaneous systemic scleroderma, which was formerly called CREST syndrome.

The condition’s pathology is not completely understood, but it’s believed that some individuals have a genetic predisposition to scleroderma which is triggered by external factors.

These triggers include: viral infection by cyto-megalo-virus and parvovirus B19; exposure to silica dust, organic solvents, vinyl chloride; and medication like cocaine, bleomycin, and pentazocine.


Scleroderma, also known as systemic sclerosis, is a chronic systemic autoimmune disease characterized by progressive fibrosis of skin and internal organs such as the gastrointestinal tract, lungs, heart, and kidneys. The exact cause is unknown but is associated with autoimmune processes that lead to excessive collagen production in individuals with a genetic predisposition. Scleroderma can be either limited or diffuse, with symptoms varying according to the organs involved. Treatment options involve immunosuppressants and medications to relieve symptoms and slow the progression of the disease.


  1. "Robbins Basic Pathology" Elsevier (2017)
  2. "Diagnosis and Classification of Systemic Sclerosis" Clinical Reviews in Allergy & Immunology (2010)
  3. "Cellular and molecular mechanisms in the pathophysiology of systemic sclerosis" Pathologie Biologie (2015)
  4. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  5. "Systemic sclerosis/scleroderma: a treatable multisystem disease" Am Fam Physician (2008)
  6. "Following the Molecular Pathways toward an Understanding of the Pathogenesis of Systemic Sclerosis" Annals of Internal Medicine (2004)
  7. "The'CREST'Syndrome" Archives of Internal Medicine (1979)
  8. "New therapeutic strategies for systemic sclerosis--a critical analysis of the literature" Clin Dev Immunol (2005)

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