Arthritis and Rheumatism Associates, P.C.

By: PAUL J DEMARCO, MD, FACP, FACR, RHMSUS

Scleroderma is the most unique set of disorders in Rheumatology; this group of diseases bears the distinct common pathway of autoimmune involvement that ends in hardening, or “sclerosis,” of the skin. Sclerosis is caused by the proliferation of a type of cells called fibroblasts, which are cells that make collagen and other thick connective tissue components. These are activated by the immune system but act along a separate pathway to cause disease. The scleroderma disease group can affect all ages and are usually classified in the same manner in children and adults. Scleroderma can be divided into two major groups. One group manifests a fibrotic response primarily in the skin in a localized way and the other group manifests a fibrotic response in a more generalized or systemic manner including the skin. Systemic involvement including sclerosis of internal organs is called systemic sclerosis.

Not all sclerotic disease states are autoimmune. Rheumatologists are particularly skilled in differentiating autoimmune from non-autoimmune sclerotic states. We accomplish this by interpreting the clinical response in the setting of specific autoantibodies (antibodies against our own tissues). There are a variety of examples of non-autoimmune sclerotic or fibrotic disorders.

Certain endocrine diseases such as diabetes can cause a fibrotic disorder in the skin. Medications have been known to cause sclerotic responses in the skin. One example is the contrast agent used for MRI imaging (gadolinium), now known to infiltrate the skin of patients with kidney disease and result in a sclerotic disorder called nephrogenic systemic fibrosis. Another example is a tainted over-the-counter supplement, L-Tryptophan, which was noted to have caused another type of skin thickening known as eosinophilia myalgia syndrome. This article  discusses the group of disorders rheumatologists identify as having an autoimmune etiology, that being localized scleroderma and systemic sclerosis.

Localized scleroderma is the group of diseases that manifest only in the skin. A patch of skin with a fibrotic reaction is typically called morphea. It can appear as a single patch or a group of patches; the group of morphea patches is called guttate morphea. This can occur across large regions of the trunk in a symmetrical manner, called generalized morphea. A broader band of sclerodermatous involvement of skin, usually crossing a joint line or an organ system (such as the face or head) is called linear scleroderma. Localized scleroderma is associated with an autoantibody, DNA topoisomerase II, defining localized scleroderma as a rheumatologic or autoimmune disorder. 

Interested in learning how Systemic sclerosis (SSc) differs from its sister, localized scleroderma? Click here to read more or visit http://www.arapc.com

 

Nicole Saddic Thomas, MD, FACRNicole Saddic Thomas, MD, FACR

A 40-year-old gentleman came to me complaining of fevers, night sweats,10 pounds unintentional weight loss, and swollen ankles. He had high calcium levels and very high levels of inflammation noted on his blood tests. There were no clear-cut infections to account for the inflammation. To investigate further, I obtained x-rays, which revealed many swollen lymph nodes in his chest. I was concerned about malignant cancer and consulted with hematology/oncology colleagues who shared my concern. We arranged a lymph node biopsy and, fortunately, there was no cancer found. What the lymph node biopsy report did reveal was “sarcoidosis.”

Sarcoidosis is an autoimmune condition that causes the body to form nodules consisting of inflamed tissue, called granulomas, in the body’s organs. Sarcoidosis can affect almost any organ in the body. It usually involves the lungs, but the skin, eyes, nose, muscles, heart, liver, spleen, gut, kidney, nerves, lymph nodes, joints, and brain can all be involved.

We do not know the exact cause of sarcoidosis. The prevailing theory is that there is an environmental trigger in a genetically susceptible person that leads to the development of the disease. Sarcoidosis is not contagious and is more common in African-American, German, Irish, Scandinavian, Asian and Puerto Rican patients. Sarcoidosis generally occurs between the ages of 20 and 40 but can be diagnosed at any age.

Because sarcoidosis can affect so many different organs, it can be challenging to diagnose. The symptoms also may vary depending on the organs involved. Some people may have no symptoms and sarcoidosis only becomes apparent when a routine chest X-ray comes back as abnormal, showing evidence of lymph node swelling from sarcoid involvement. Other patients may experience weight loss, fatigue and fevers. If the lungs
are involved, coughing, breathlessness or chest pain may occur. Patients may experience painful, red eyes or vision loss if sarcoidosis involves the eyes. Skin nodules, ulcers or flat areas of discolored skin can develop in sarcoidosis patients, usually near the nose or eyes, or on the back, arms, legs and scalp. Tender bumps also may appear on the ankles and shins. Sarcoidosis can cause swollen cheeks and dry mouth. It also can cause swollen lymph nodes, sometimes occurring within the chest, but also may occur under the chin, in the armpit area or in the groin. Sarcoidosis also may cause elevated calcium levels or abnormal blood cell counts. Rarely, sarcoidosis may interfere with the heart’s electrical system and cause irregular heart rhythms or affect the brain or nerves causing
neurological dysfunction.

There is no single test to diagnose sarcoidosis and its diagnosis generally depends on the organ system involved. Imaging studies, especially a chest x-ray, can be helpful. A blood test called an ACE (angiotensin converting enzyme) level is used to determine elevated levels related to sarcoidosis. However, it is possible to have sarcoidosis with a normal ACE test and ACE levels also can be elevated due to other conditions, so it’s not a perfect test. If possible, a biopsy of the swollen area is ideal to confirm a diagnosis of sarcoidosis and rule out other causes of swelling such as infections, cancers or other medical conditions.

Because sarcoidosis can affect so many different organs, it can be challenging to diagnose. The symptoms also may vary depending on the organs involved. Some people may have no symptoms and sarcoidosis only becomes apparent when a routine chest X-ray comes back as abnormal, showing evidence of lymph node swelling from sarcoid involvement. Other patients may experience weight loss, fatigue and fevers. If the lungs are involved, coughing, breathlessness or chest pain may occur. Patients may experience painful, red eyes or vision loss if sarcoidosis involves the eyes. Skin nodules, ulcers or flat areas of discolored skin can develop in sarcoidosis patients, usually near the nose or eyes, or on the back, arms, legs and scalp. Tender bumps also may appear on the ankles and shins. Sarcoidosis can cause swollen cheeks and dry mouth. It also can cause swollen lymph nodes, sometimes occurring within the chest, but also may occur under the chin, in the armpit area or in the groin. Sarcoidosis also may cause elevated calcium levels or abnormal blood cell counts. Rarely, sarcoidosis may interfere with the heart’s electrical system and cause irregular heart rhythms or affect the brain or nerves causing neurological dysfunction.

Some people with sarcoidosis require no treatment. If the inflammation is leading to organ damage, corticosteroid medications and sometimes further immunosuppressant medications are needed. Your rheumatologist can help you test for sarcoidosis and determine the best course for you.

For more details visit WashingtonArthritis.com

 


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