Scleroderma: Pathology review

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.

Okay, for pathology, scleroderma usually starts with an injury to the endothelial cells that line the interior surface of small blood vessels, causing non-inflammatory vasculitis.

These cells then start expressing adhesion molecules that T cells stick to.