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Chief Complaint: Sores on my body

History of Present Illness: Patient is a 54 year old thin

Hispanic male who presents to clinic with complaints of

sores on his body of a two year onset. These sores start off

spontaneously as blisters on his chest, arms, and feet, and

are somewhat painful. He denies any other systemic

symptoms, and is otherwise healthy. His main concern is

not being able to work due to the painful sores on his feet.

Past Medical History: None

Medications: None

Family History: Noncontributory

Social History: Lives at home with family, works in a

factory, although has been unable to work since onset of

this condition. Denies alcohol/tobacco/illicit drug use

Allergies: NKDA

Physical Exam: Multiple areas of sclerotic plaques in

various stages of healing on forehead, chest, posterior

upper extremities, dorsal feet, and bilateral toes, with

some plaques exhibiting central ulceration and others with

hyperkeratotic crust. No mucosal or fingernail changes

notes.

Laboratory tests: CBC, CMP, ANA, HIV screen within

normal limits

Histology:

H&E: ulcer with inflamed fibrosing granulation tissue

DIF: Subepidermal bulla with linear IgG and C3 along

DEJ

IIF: IgG on dermal side of DEJ

Patient Course/Treatment: Considering laboratory,

histologic, and clinical findings, the patient was diagnosed

with Epidermalysis Bullosa Acquisita, inflammatory type.

He was prescribed triamcinolone 0.1% ointment for active

lesions as well as a tapered course of oral prednisone, and

referred to a tertiary center for further management.

Case Presentation

Figures 1-3: Clustered erythematous, scarred plaques with crust on the forehead, and metatarsal digits. Figure 4: IIF showing a subepidermal bulla with

thick band of IgG deposition along dermal surface

Discussion

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

which target type VII collagen, the primary collagen found in

anchoring fibrils of the lamina densa (1,2). Anchoring fibrils serve to

attach the epidermal basement membrane to the dermis (3), and the

buildup of IgG creates tissue fragility by mechanistically disrupting

this normal architecture. Most commonly, this disease presents with

tense vesicles and bullae on a noninflammatory base, most

pronounced at sites of repetitive minor trauma such as the 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

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

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

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

inflammatory EBA.

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

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,

which will reveal deposition in the dermal-epidermal junction (DEJ)

primarily of IgG as well as possibly complement, IgA, IgM, Factor

B and properdin (1,2,4).

Additionally, indirect immunofluorescence may be performed on

salt-split skin separated at the lamina lucida of the basement

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

antibodies primarily on the epidermal surface (2,4).

The treatment for EBA currently relies on pharmacotherapy, with

variable results. Treatment should begin with agents that can be

tolerated for chronic use with minimal side-effects. Colchicine is

frequently used as a first-line therapy. Dapsone can also be used

either alone or in conjunction with other drugs such as colchicine or

corticosteroids. Prednisone (0.5 to 1.5 mg/kg per day) has been

frequently used, though its side-effect profile and lack of efficacy

limits its use to second-line or in combination with other therapies

(4,5).

Immunosuppressive medications have been used in refractory

disease, including rituximab, azathioprine, cyclophosphamide,

mycophenolate mofetil and cyclosporine. These are often used in

conjunction with steroids or other anti-inflammatory medications

such as those described above (6). IVIG has been used for

widespread or refractory disease, either alone or combined with

other agents (7-9).

As with many chronic and relapsing dermatologic conditions,

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

seek medical treatment early should infection be suspected.

References

1. Woodley DT, Briggaman RA, O'Keefe EJ, Inman AO, Queen LL, Gammon WR. Identification of the skin basement membrane autoantigen in epidermolysis

bullosa acquisita. N Engl J Med. 1984; 310:1007.

2. Yaoita H, Briggaman RA, Lawley TJ, Provost TT, Katz SI. Epidermolysis bullosa acquisita: ultrastructural and immunological studies. J Invest Dermatol.

1981; 76:288.

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.

4. Gupta R, Woodley DT, Chen M. Epidermolysis bullosa acquisita. Clin Dermatol. 2012 Jan-Feb;30(1):60-69.

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

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

Sci. 2011; 62:169.

6. Gürcan HM, Ahmed AR. Current concepts in the treatment of epidermolysis bullosa acquisita. Expert Opin Pharmacother. 2011; 12:1259.

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

successful betamethasone/dapsone combination therapy. Acta Derm Venereol. 2001; 81:429.

Western University/Chino Valley Medical Center

Kiran Mian, DO and Navid Nami, DO

Epidermalysis Bullosa Acquisita: A case presentation