Rare case of EBA with systemic sclerosis seen in man, 72: Report

High levels of type VII collagen may link 2 rare autoimmune diseases

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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A rare case of epidermolysis bullosa acquista (EBA) was found in an older man in France with systemic sclerosis (SSc), according to a new report by researchers who noted the unusual co-occurrence of the two autoimmune diseases.

“Several autoimmune or inflammatory diseases have been reported in association with SSc. … However, the occurrence of auto-immune blistering disorders in SSc is extremely rare,” the researchers wrote.

The clinicians believe that high levels of type VII collagen — the protein that’s wrongfully attacked in EBA — in the skin of SSc patients could underlie the association between the two autoimmune conditions.

“This report possibly suggests a link between these two rare diseases,” they wrote.

The case was detailed in a letter to the editor titled, “An uncommon case of epidermolysis bullosa acquisita associated with systemic sclerosis,” which was recently published in Annales de Dermatologie et de Vénéréologie.

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EBA is an autoimmune type of epidermolysis bullosa (EB), which occurs when self-reactive antibodies attack type VII collagen, a connective tissue protein in the skin and mucus membranes that line body cavities such as the mouth, nose, and eyes.

Symptoms include skin fragility and blisters, lesions, and scarring that affect the skin and mucus membranes.

SSc, also known as scleroderma, is another autoimmune disease — one marked by the accumulation of scar tissue (fibrosis) in the skin and potentially the internal organs. Scar tissue in SSc is formed largely by an excess of connective tissue proteins like collagen.

While both SSc and EBA are sometimes linked to other autoimmune and inflammatory diseases, reports of these two conditions co-existing are rare. Indeed, there has been only one previous report of such a pairing, according to the authors.

The case detailed in this report involved a 72-year-old Caucasian man who had been diagnosed with diffuse cutaneous SSc — one of six main types of the rare disorder — seven years earlier. That diagnosis was based on symptoms including skin fibrosis, inflammatory arthritis, lung disease, and the presence of SSc-associated antibodies. He also had a history of other autoimmune problems.

The man was initially treated at a clinic for skin blistering that had started three months prior. Upon examination, he showed signs of blistering, and sores and cysts on the hands, feet, trunk, and in the mouth.

These types of skin findings are rare in SSc, but are characteristic of EB — which prompted the doctors to further investigate the potential presence of another medical condition.

A skin biopsy revealed signs of EB, including elevations in eosinophils, a type of immune cell, and antibody deposits in the skin. Blood tests returned positive for circulating antibodies against type VII collagen, confirming an EBA diagnosis.

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Treatments for this patient included a potent topical steroid and colchicine, an anti-inflammatory, but they were not effective. He then was started on intravenous or into-the-vein rituximab, an immunotherapy that has shown efficacy in both EB and SSc.

Rituximab led to rapid and complete remission of EB, with SSc symptoms remaining stable.

The man relapsed a year later, requiring an additional course of rituximab. Additional maintenance infusions of rituximab were planned, but the man unexpectedly died of sudden cardiac arrest a few months later.

The scientists noted that while the association between SSc and EBA “is very rare and may be fortuitous,” there are possible biological mechanisms that could underlie the link.

Type VII collagen is seen at high levels in the skin of SSc patients. This could prompt the immune system to recognize and attack it, leading to EBA, the team hypothesized.

The team said further research is needed to explore this potential link, though “a fortuitous association remains possible.”