A seven-month-old girl was referred to the emergency department (ED) after a general practitioner suspected Steven-Johnson syndrome. Actually, the diagnosis of bullous pemphigoid (BP) was made based on biopsies; BP is a rare, autoimmune skin disease involving the presence of blisters known as bullae. The child was efficiently treated with topical steroids. This case shows the importance of the ED physician’s prior knowledge of BP so that a differential diagnosis with other autoimmune diseases (dermatosis, pemphigus) can be made.

Thabouillot O, Le Coz J, Roche NC. Bullous pemphigoid in an infant: a case report. Prehosp Disaster Med. 2018;33(4):448–450.

Recent advances in epigenetics have enhanced our knowledge of how environmental factors (UV radiation, drugs, infections, etc.) contribute to the development of autoimmune diseases (AID) in genetically predisposed individuals. Studies conducted in monozygotic twins discordant for AID and spontaneous autoimmune animal models have highlighted the importance of DNA methylation changes and histone modifications. Alterations in the epigenetic pattern seem to be cell specific, as CD4+ T cells and B cells are dysregulated in systemic lupus erythematosus, synovial fibroblasts in rheumatoid arthritis and cerebral cells in multiple sclerosis. With regard to lymphocytes, the control of tolerance is affected, leading to the development of autoreactive cells. Other epigenetic processes, such as the newly described miRNAs, and post-translational protein modifications may also be suspected. Altogether, a conceptual revolution is in progress, in AID, with potential new therapeutic strategies targeting epigenetic patterns.

1,25-Dihydroxyvitamin D3 (1,25(OH)2D3), the active form of vitamin D3, is a central player in Ca and bone metabolism. More recently, important immunomodulatory effects have been attributed to this hormone. By binding to its receptor, the vitamin D receptor, 1,25(OH)2D3 regulates the expression of various genes and consequently affects the behaviour of different cell types within the immune system. 1,25(OH)2D3 can potently inhibit pathogenic T cells and gives rise to elevated numbers of regulatory T cells via the induction of tolerogenic dendritic cells. These immunomodulatory activities of 1,25(OH)2D3 have also been proven useful in vivo: administration of 1,25(OH)2D3 in several animal models can prevent or cure different autoimmune diseases and graft rejection. To overcome the dose-limiting side effects of 1,25(OH)2D3 on Ca and bone, less calcaemic structural analogues (alone or in combination with synergistically acting drugs or bone-resorption inhibitors) have been successfully used in animal models. Furthermore, as 1,25(OH)2D3 also contributes to host defence against infectious agents by the induction of antimicrobial responses, this molecule might provide a new strategy to deal with drug-resistant infections. According to the pleiotropic effects of 1,25(OH)2D3 in the immune system, increasing epidemiological data underline the importance of adequate vitamin D intakes in reducing the risk of several autoimmune diseases and infections such as tuberculosis.

Patients with autoimmune inner-ear disease (AIED) are treated with high doses of steroids in the short term when suffering an acute hearing loss. As a consequence, substances such as methotrexate have been employed in the role of steroid-sparing agents. Additionally, it is known that tumour necrosis factor α (TNFα) is an important mediator of the inflammatory process, inhibition of which may be of benefit in AIED. This case report illustrates the use of a TNFα inhibitor in combination with methotrexate, which is known to be an effective combination in rheumatoid arthritis but has yet to be described for sensorineural hearing loss. We conclude that progressive AIED may respond well to TNFα inhibition, whilst more difficult cases, such as this example, could benefit from combining such therapy with methotrexate.

Inner ear involvement with sensorineural hearing loss (SNHL) has been reported in many autoimmune disorders including ulcerative colitis. The pathogenetic mechanism of hearing loss in ulcerative colitis is thought to be immune mediated. Diagnostic tests are being developed to identify inner ear autoantibodies, that may be the cause of such hearing loss. The only test that is currently available for clinical use is the Otoblot test. This, however, tests only for antibodies against bovine heat shock protein 70 which is only one of the many cross-reacting proteins against the inner ear in suspected immune-mediated hearing loss. The clinical response to steroid therapy is thus the mainstay in the diagnosis of immune-mediated hearing loss. This paper presents a series of patients with clinically suspected autoimmune hearing loss. Diagnostic assays for this condition are discussed along with a review of the recent advances in the pathogenesis and laboratory diagnosis of immune-mediated sensorineural hearing loss.

The association of sensorineural hearing loss and ulcerative colitis is well documented and it is speculated that this is autoimmune in origin. A case in a 12-year-old boy is described, that initially responded to steroid therapy, but four years later resulted in bilateral, profound sensorineural hearing loss in spite of good control of his bowel disease. Immunological tests may provide a clue as to the aetiology of suspected cases of autoimmune inner ear disease. Immediate treatment with steroids with or without immunosuppressive therapy is essential as delay may lead to irreversible hearing loss.