Epidermalysis Bullosa Acquisita: a Case Presentation Kiran Mian, DO and Navid Nami, DO Western University/Chino Valley Medical Center

Epidermalysis Bullosa Acquisita: A case presentation Kiran Mian, DO and Navid Nami, DO Western University/Chino Valley Medical Center

Case Presentation Discussion Chief Complaint: Sores on my body Epidermolysis bullosa aquisita (EBA) is an autoimmune mucocutaneous blistering disease which usually occurs in adults. The disease is characterized by the production of IgG autoantibodies History of Present Illness: Patient is a 54 year old thin which target type VII collagen, the primary collagen found in Hispanic male who presents to clinic with complaints of anchoring fibrils of the lamina densa (1,2). Anchoring fibrils serve to attach the epidermal basement membrane to the dermis (3), and the sores on his body of a two year onset. These sores start off buildup of IgG creates tissue fragility by mechanistically disrupting spontaneously as blisters on his chest, arms, and feet, and this normal architecture. Most commonly, this disease presents with are somewhat painful. He denies any other systemic tense vesicles and bullae on a noninflammatory base, most symptoms, and is otherwise healthy. His main concern is pronounced at sites of repetitive minor trauma such as the feet, not being able to work due to the painful sores on his feet. hands, knees and elbows. The resulting erosions heal with scarring and milia. A subset of EBA can manifest via an alternative inflammatory process, in which collagen VII autoantibodies attack Past Medical History: None anchoring fibrils triggering an inflammatory cascade and activating complement. This leads to destruction of essential matrix proteins in the DEJ and causes the BP-like inflammatory EBA variant. Our Medications: None patient correlates with this subtype of EBA, with lesions in a distribution beyond the characteristic sites of trauma. Most noninflammatory EBA patients also have mucosal involvement, and Family History: Noncontributory severe cases may be complicated by alopecia, nail dystrophy, or hand/finger fibrosis - the so-called mitten deformity (4). Our patient did not have mucosal involvement, further aligning with Social History: Lives at home with family, works in a inflammatory EBA. factory, although has been unable to work since onset of this condition. Denies alcohol/tobacco/illicit drug use The evaluation of EBA begins with a thorough history and exam of suspicious lesions and is confirmed with biopsy. A biopsy taken from lesional skin can reveal the subepidermal site of separation, with a Allergies: NKDA cell poor infiltrate. The BP-like EBA displays a more robust inflammatory infiltrate, as consistent with our case. A biopsy taken from perilesional skin can be used for direct immunofluorescence, Physical Exam: Multiple areas of sclerotic plaques in which will reveal deposition in the dermal-epidermal junction (DEJ) primarily of IgG as well as possibly complement, IgA, IgM, Factor various stages of healing on forehead, chest, posterior B and properdin (1,2,4). upper extremities, dorsal feet, and bilateral toes, with some plaques exhibiting central ulceration and others with Additionally, indirect immunofluorescence may be performed on hyperkeratotic crust. No mucosal or fingernail changes salt-split skin separated at the lamina lucida of the basement notes. membrane zone. In EBA, antibody deposition is seen most prominently on the dermal surface. This is in contrast with bullous pemphigoid or linear IgA bullous dermatosis, which contain Laboratory tests: CBC, CMP, ANA, HIV screen within antibodies primarily on the epidermal surface (2,4). normal limits Figures 1-3: Clustered erythematous, scarred plaques with crust on the forehead, and metatarsal digits. Figure 4: IIF showing a subepidermal bulla with The treatment for EBA currently relies on pharmacotherapy, with thick band of IgG deposition along dermal surface variable results. Treatment should begin with agents that can be Histology: tolerated for chronic use with minimal side-effects. Colchicine is H&E: ulcer with inflamed fibrosing granulation tissue frequently used as a first-line therapy. Dapsone can also be used References either alone or in conjunction with other drugs such as colchicine or DIF: Subepidermal bulla with linear IgG and C3 along corticosteroids. Prednisone (0.5 to 1.5 mg/kg per day) has been DEJ 1. Woodley DT, Briggaman RA, O'Keefe EJ, Inman AO, Queen LL, Gammon WR. Identification of the skin basement membrane autoantigen in epidermolysis frequently used, though its side-effect profile and lack of efficacy IIF: IgG on dermal side of DEJ bullosa acquisita. N Engl J Med. 1984; 310:1007. limits its use to second-line or in combination with other therapies 2. Yaoita H, Briggaman RA, Lawley TJ, Provost TT, Katz SI. Epidermolysis bullosa acquisita: ultrastructural and immunological studies. J Invest Dermatol. (4,5). 1981; 76:288. Patient Course/Treatment: Considering laboratory, 3. Keene DR, Sakai LY, Lunstrum GP, Morris NP, Burgeson RE. Type VII collagen forms an extended network of anchoring fibrils. J Cell Biol. 1987; 104:611. Immunosuppressive medications have been used in refractory histologic, and clinical findings, the patient was diagnosed 4. Gupta R, Woodley DT, Chen M. Epidermolysis bullosa acquisita. Clin Dermatol. 2012 Jan-Feb;30(1):60-69. disease, including rituximab, azathioprine, cyclophosphamide, with Epidermalysis Bullosa Acquisita, inflammatory type. 5. Saleh MA, Ishii K, Kim YJ, Murakami A, Ishii N, Hashimoto T, Schmidt E, Zillikens D, Shirakata Y, Hashimoto K, Kitajima Y, Amagai M. Development of mycophenolate mofetil and cyclosporine. These are often used in NC1 and NC2 domains of type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients. J Dermatol conjunction with steroids or other anti-inflammatory medications He was prescribed triamcinolone 0.1% ointment for active Sci. 2011; 62:169. such as those described above (6). IVIG has been used for lesions as well as a tapered course of oral prednisone, and 6. Gürcan HM, Ahmed AR. Current concepts in the treatment of epidermolysis bullosa acquisita. Expert Opin Pharmacother. 2011; 12:1259. widespread or refractory disease, either alone or combined with other agents (7-9). referred to a tertiary center for further management. 7. Cunningham BB, Kirchmann TT, Woodley D. Colchicine for epidermolysis bullosa acquisita. J Am Acad Dermatol. 1996; 34:781. 8. Hughes AP, Callen JP. Epidermolysis bullosa acquisita responsive to dapsone therapy. J Cutan Med Surg. 2001; 5:397. 9. Miyake H, Morishima Y, Komai R, Hashimoto T, Kishimoto S. Epidermolysis bullosa acquisita: correlation of IgE levels with disease activity under As with many chronic and relapsing dermatologic conditions, successful betamethasone/dapsone combination therapy. Acta Derm Venereol. 2001; 81:429. patient education is first and foremost in the management of EBA. Patients should be counseled to take precautions against minor trauma. They should cleanse their skin gently, avoid scrubbing, and