A Review of Acquired Autoimmune Blistering Diseases in Inherited Epidermolysis Bullosa: Implications for the Future of Gene Therapy

Gene therapy serves as a promising therapy in the pipeline for treatment of epidermolysis bullosa (EB). However, with great promise, the risk of autoimmunity must be considered. While EB is a group of inherited blistering disorders caused by mutations in various skin proteins, autoimmune blistering diseases (AIBD) have a similar clinical phenotype and are caused by autoantibodies targeting skin antigens. Often, AIBD and EB have the same protein targeted through antibody or mutation, respectively. Moreover, EB patients are also reported to carry anti-skin antibodies of questionable pathogenicity. It has been speculated that activation of autoimmunity is both a consequence and cause of further skin deterioration in EB due to a state of chronic inflammation. Herein, we review the factors that facilitate the initiation of autoimmune and inflammatory responses to help understand the pathogenesis and therapeutic implications of the overlap between EB and AIBD. These may also help explain whether corrections of highly immunogenic portions of protein through gene therapy confers a greater risk towards developing AIBD.

Periodontal Manifestation in a Patient with Kindler Syndrome

Kindler syndrome is a rare subtype of inherited epidermolysis bullosa. A 42-year-old female patient was admitted to our clinic with a complaint of tooth mobility. Multiple hypo- and hyperpigmented macules dissipated all over her body, prominent poikilodermatous changes, xerosis of the skin, and atrophy were seen in the clinical extraoral examination. Intraoral examination showed atrophy of the buccal mucosa, limited oral opening, epidermal tissue easily separated from the connective tissue, painful ulcers of the hard palate, severe periodontitis, and keratosis of the lips. All of the teeth showed mobility. After dermatologist consultation, the diagnosis of the patient was clinically identified as “Kindler syndrome.” All of her teeth were extracted due to her progressive periodontal disease and late admission to our clinic. Periodontal treatment might be effective in treating and controlling oral symptoms related to the syndrome and in improving the patient’s quality of life.

INHERITED EPIDERMOLYSIS BULLOSA IN NEWBORN (CASE STUDY)

Inherited epidermolysis bullosa (IEB) is a group of genetically and clinically heterogeneous diseases characterized by the formation on the skin and mucous membranes blisters and erosion due to injury. Different forms of IEB can be accompanied by various extracutaneous complications, such as blisters and erosion on the cornea and mucous membranes, stenoses and strictures of the respiratory system, gastrointestinal tract, urinary system, muscle dystrophy, and malignant tumors. Therefore diagnosis and prescribing appropriate treatment and follow-up care is an important task for neonatologists and pediatric dermatologists. Because the manifestations of IEB are numerous, a specialized center is required for optimal care, where multidisciplinary care will be provided (neonatologists, pediatric surgeons, pediatric dermatologists, etc.). The purpose of this case report is to pay attention of specialists to a disease that is rare, to present clinical case of IEB in newborn who was admitted to the intensive care unit of newborns of Vinnitsa Regional Children’s Clinical Hospital.