A case report shows that epidermolysis bullosa acquisita (EBA), a rare form of epidermolysis bullosa that usually occurs in adulthood, can appear at earlier ages, even during adolescence.
The study highlights the importance of considering EBA when diagnosing younger patients with suspicious clinical findings. The study also identifies for the first time an association between the disease and chronic inflammation.
The report, titled, “Case Report of a 21-Year-Old Man With Epidermolysis Bullosa Acquisita,” was published in the Journal of Cutaneous Medicine and Surgery.
It describes the case of a 21-year-old male patient who had a two-year history of symptoms including blisters on his hands, knees, and toes, that were triggered by minor skin injuries, such as removing and securing his watch.
The patient did not inherit the condition, as his family history was negative for skin and other medical diseases.
Physical exams revealed that the healing of lesions was accompanied by significant scarring and small white spots known as milia, both hallmarks of EBA. Traces of scarring were also observed on skin biopsies of blisters. No significant inflammation was seen.
Importantly, the biopsies revealed a strong presence of a class of antibodies called IgM and IgG at the interface between the epidermis and the dermis layers of the skin, accompanied by a separation between both layers — which are important signs of EBA.
The high levels of these antibodies are consistent with a condition called polyclonal gammopathy, which is the excessive production of antibodies that may reflect the presence of multiple inflammatory conditions.
Based on symptoms and physical exams, the patient was diagnosed with mechanobullous epidermolysis bullosa acquisita (EBA), a rare autoimmune disease characterized by the overproduction of autoantibodies that attack a protein called collagen VII, which “anchors” the skin layers.
Mechanobullous is the most common subtype of EBA. However, this case was unusual because EBA typically develops in adulthood and is extremely rare at younger ages.
“This case showcases an unusual early age of presentation for mechanobullous EBA and illustrates the importance of interpreting pathology in the context of clinical findings and maintaining a high index of suspicion for EBA in younger patients who present with classic findings,” the researchers wrote.
Because no other illnesses of inflammatory conditions were apparent in the patient, “this case is particularly unique as it is the first report of an association between EBA and polyclonal gammopathy and could be suggestive of chronic inflammation, which would fit with our patient’s chronic history of EBA,” the team suggested.