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Epidermolysis Bullosa Acquisita

EBA

Epidermolysis bullosa acquisita is a chronic autoimmune disorder characterized by subepidermal blisters in the skin and mucous membranes and is mostly reported in adults.


Presentation

Although epidermolysis bullosa acquisita (EBA) can be seen at any age, it has an increased prevalence in adulthood. The presentation of EBA is varied, with five clinical patterns being described so far.

Patients with classical EBA show skin fragility and the formation of non-inflammatory tense bullae that are prone to rupture. These lesions develop more on sites subject to minor trauma, such as the back of the hands, knuckles, elbows, knees and feet. The blisters heal with scarring and the formation of small inclusion cysts in the epidermis, termed milia [1]. Mucosal involvement is noted.

Bullous pemphigoid-like EBA shares clinical features with bullous pemphigoid, with patients presenting with lesions that are widespread, occurring in the trunk, extremities and skin folds [2]. Being surrounded by inflamed skin, the blisters are usually tense, with pruritus a common finding. Milia and scarring are not prominent.

A mucous membrane variant, termed cicatricial pemphigoid-like EBA, manifests with erosions and scarring on mucosal surfaces such as the mouth, conjunctiva, upper esophagus, vagina and anus [3]. The features of classical EBA may be absent in such cases.

The Brunsting-Perry pemphigoid-like variant of EBA occurs with bullae primarily on the head and neck region. Lesions often tend to heal with scarring with the involvement of mucosal lining being uncommon [4].

Immunoglobulin (Ig) A bullous dermatosis-like EBA appears with an annular arrangement of bullae seen characteristically in linear IgA bullous dermatosis [5]. Mucous membranes can be affected.

EBA rarely shows up in children, with the mucous membranes being more frequently involved.

EBA can occur concurrently with a variety of systemic diseases, such as systemic lupus erythematosus (SLE), inflammatory bowel disease (IBD), rheumatoid arthritis, amyloidosis, thyroiditis, leukemia, diabetes etc.

Pathologist
  • The test was completed by three groups of professionals: dermatology residents in training at the University Medical Center Groningen (UMCG), international experts on bullous diseases, and dermatologists and pathologists who had participated in the Groningen[ncbi.nlm.nih.gov]
  • Dermatology, former-resident, Complexo Hospitalar Padre Bento de Guarulhos - Guarulhos (SP), Brazil II Physician, Specialist in Dermatology, former-resident, Complexo Hospitalar Padre Bento de Guarulhos - Guarulhos (SP), Brazil III Master in Pathology, Pathologist[scielo.br]
Increased Energy
  • The observed changes in the metabolic pattern of EBA sera, i.e. increased levels of amino acid, point toward an increased energy demand in EBA.[ncbi.nlm.nih.gov]
Dysphagia
  • Chua S, Dodd H, Saeed IT, et al. (2002) Dysphagia in a patient with lupus and review of the literature. Lupus 11: 322-324. xxiii.Kettler AH, Bean SF, Duffy JO, et al. (1988) Systemic lupus erythematosus presenting as a bullous eruption in a child.[kosmetischemedizin-online.de]
  • It is suggested, however, that the dentist refer the patient to an ENT or GI specialist to evaluate dysphagia rather than empirically prescribe steroids without consulting a specialist.[cdeworld.com]
  • In a subset of patients with predominant mucous membrane involvement, the disease manifests with blisters and scar formation in the oral, ocular, vaginal, and other mucous membranes, leading to significant dysfunction, such as visual function loss, dysphagia[emedicine.medscape.com]
  • She complained of dysphagia due to involvement of the tongue and buccal mucosae. The blisters appeared spontaneously, and were not triggered by mechanical trauma. She had no itching, fever, or malaise.[jamanetwork.com]
  • One possible approach is to use phenytoin and oral steroid elixirs to reduce the symptoms of dysphagia, although generally steroids are avoided. If there is oral candidiasis, appropriate antifungal medication is helpful.[patient.info]
Hip Pain
  • A 59-year-old woman had severe and debilitating left hip pain due to osteonecrosis of the femoral head. She had suffered from EBA for the past 7 years.[ncbi.nlm.nih.gov]
Skin Lesion
  • In the classical form, onset occurs in adulthood and the bullae may be soft, tense or haemorrhagic, located on otherwise healthy skin. Lesions are usually triggered by minor trauma and are mainly localised to sites that are easily injured.[orpha.net]
  • The skin lesions responded to systemic immunosuppressant therapy and have regressed after allogeneic bone marrow transplantation.[ncbi.nlm.nih.gov]
Nikolsky's Sign
  • The development of a blister following self induced trauma, the positive Nikolsky's sign, bulla spreading sign and a subepidermal bulla were in favour of a diagnosis of epidermolysis bullosa acquisita.[ijdvl.com]
  • Nikolsky’s sign was positive. In addition, mucosal lesions appeared on the tongue and lips.[omicsonline.org]
  • A blister can be provoked by tangential pressure on normal-appearing skin adjacent to a lesion (Nikolsky sign). The involved areas heal without scarring.[plasticsurgerykey.com]
  • The Nikolsky sign was negative. The results of an examination of the mucous membranes revealed red conjunctivae; erosions with crusts in the antrum nasi; and vesicles on the palate, buccal mucosa, and tongue and in the vagina. Figure 1.[jamanetwork.com]
Cutaneous Manifestation
  • Figure 1: Cutaneous manifestations. (a-c) Skin lesions on the back at the first visit. (d) Aggravated skin lesions at the onset of MRSA sepsis, and (e) at remission after 2 cycles of IVIG.[omicsonline.org]
  • Abstract Porphyria cutanea tarda (PCT) is the most common type of porphyria worldwide and is often initially diagnosed when cutaneous manifestations arise.[karger.com]
  • Box 1 outlines the most common cutaneous manifestations of diabetes, arranged by frequency of occurrence (most to least frequent).[clevelandclinicmeded.com]

Workup

EBA shares many clinical and immune-pathological features with other subepithelial blistering disorders and so its identification may hence be challenging. A thorough patient history and full skin examination help to narrow the differential diagnosis. Additional tests must be performed to confirm the disease.

The histopathological findings vary with the clinical subtype, with early lesions showing blister formation along the dermal-epithelial junction (DEJ) with adjacent papillary edema [6]. The intensity of inflammation may vary with the type of lesion encountered.

Direct immunofluorescence shows the deposition of immunoglobulins in almost all cases. Classical EBA presents with the deposition of IgG and complement along the DEJ. Some subtypes may also showcase the presence of IgA, IgM, factor B and properdin [7].

Indirect immunofluorescence using the salt-split skin technique may demonstrate the presence of antibody binding to the dermal side of the basement membrane. This test may help to differentiate EBA from other autoimmune disorders causing subepithelial blister formation [8].

Additional studies may be done to support a diagnosis of EBA in the setting of a negative immunofluorescence report. These include direct and indirect immunoelectron microscopy, enzyme-linked immunosorbent assay (ELISA), immunoblotting, immunoprecipitation and collagen immunomapping techniques [7] [9].

Staphylococcus Aureus
  • In this article, we report a successful THA in a patient with osteonecrosis of the femoral head with EBA and methicillin-resistant staphylococcus aureus (MRSA) skin carriage.[ncbi.nlm.nih.gov]

Treatment

  • The patients' response suggests that combined treatment with immunoadsorption and rituximab may be a valuable adjuvant treatment regimen for severe mechanobullous EBA, which is in line with recently observed beneficial effects in inflammatory EBA.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis EBA is a chronic disease that resolves slowly and leads to dystrophic scarring and milia.[orpha.net]
  • Although typically associated with a good prognosis in children, there are rare cases that are refractory to treatment with conventional immunosuppressive therapy.[ncbi.nlm.nih.gov]
  • Prognosis - Epidermolysis bullosa acquisita Not supplied. Treatment - Epidermolysis bullosa acquisita Not supplied. Resources - Epidermolysis bullosa acquisita Not supplied.[checkorphan.org]
  • Prognosis. When the child is born alive, the prognosis in both pemphigus vulgaris and pemphigus foliaceus of the newborn seems good [92].[plasticsurgerykey.com]

Etiology

  • Although the precise etiology of EBA is unknown, most of the evidence suggests an autoimmune etiology.[accessmedicine.mhmedical.com]
  • The etiology of epidermolysis bullosa acquisita (EBA) is unknown.[ncbi.nlm.nih.gov]
  • Etiology EBA is caused by the production of antibodies against the skin basement membrane collagen VII, the major component of the anchoring fibrils located in the dermal-epidermal junction, under the lamina densa.[orpha.net]

Epidemiology

  • Summary Epidemiology The prevalence is unknown but the incidence is estimated at 1 in 96,200 new cases per year. Clinical description The disease manifests in two clinical forms: a classical form and an inflammatory form.[orpha.net]
  • […] cutanea tarda Dermatitis herpetiformis Contact dermatitis Drug eruption Bullous SLE Hereditary forms of EBA Monitoring Either collagen type VII IgG antibody and epithelial skin antibody or collagen type VII IgG antibody and IgG BMZ antibodies Background Epidemiology[arupconsult.com]
  • References Horner ME, Alikhan A, Tintle S, Tortorelli S, Davis DM, Hand JL: Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Int J Dermatol 2013;52:1464-1480. Elder GH: Porphyria cutanea tarda.[karger.com]
  • Extramammary Paget Disease: Epidemiology and Association to Cancer in a Quebec-Based Population. J Low Genit Tract Dis. 2013 Apr;17(2):167-74. 5. Lam C, Vleugels RA. Management of Cutaneous Dermatomyositis.[bumc.bu.edu]
Sex distribution
Age distribution

Pathophysiology

  • Despite recent progress in understanding the pathophysiology of EBA, its diagnosis is still challenging. Areas covered: This review provides an update on the clinical manifestations and diagnostic methods of EBA.[ncbi.nlm.nih.gov]
  • SLE Hereditary forms of EBA Monitoring Either collagen type VII IgG antibody and epithelial skin antibody or collagen type VII IgG antibody and IgG BMZ antibodies Background Epidemiology Incidence – 25/100,000 Age – peak onset in 40s Sex – M:F, equal Pathophysiology[arupconsult.com]
  • 2017 42 Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy. ( 27161164 ) Oktem A...Kocyigit P 2017 43 Epidermolysis Bullosa Acquisita: From Pathophysiology[malacards.org]
  • Various murine models have contributed to the understanding of the pathogenic role of antitype VII collagen antibodies and pathophysiology of epidermolysis bullosa acquisita.[emedicine.medscape.com]
  • This new edition of Essential Clinical Immunology is fully updated, now in full colour throughout and features: coverage of the underlying pathophysiology and signs and symptoms of disease, as well as the special investigations required and management[books.google.com]

Prevention

  • Thorough evaluation of cutaneous and mucosal involvement and prompt initiation of appropriate treatment will ensure the detection and prevention of dysfunction and treatment-related complications. Copyright 2012 Elsevier España, S.L. and AEDV.[ncbi.nlm.nih.gov]
  • Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates[icdlist.com]
  • The aim of treatment is to manage the disease to prevent long-term problems from scarring.[dermcoll.edu.au]
  • The primary aim in the treatment of EBA is to protect the skin and stop blister formation, promote healing and prevent complications.[autoimmunesociety.org]

References

Article

  1. Harman KE, Whittam LR, Wakelin SH, et al. Severe, refractory epidermolysis bullosa acquisita complicated by an oesophageal stricture responding to intravenous immune globulin. Br J Dermatol. 1998;139:1126–1127.
  2. Gammon WR, Briggaman RA, Woodley DT, et al. Epidermolysis bullosa acquisita – a pemphigoid like disease. J Am Acad Dermatol. 1984:820–832.
  3. Dahl MG. Epidermolysis bullosa acquisita – a sign of cicatricial pemphigoid? Br J Dermatol. 1979;101:475–483.
  4. Kurzhals G, Stolz W, Meurer M, et al. Acquired epidermolysis bullosa with the clinical feature of Brunsting-Perry cicatricial bullous pemphigoid. Arch Dermatol. 1991;127:391–395.
  5. Callot-Mellot C, Bodemer C, Caux F, et al. Epidermolysis bullosa aquisita in childhood. Arch of Dermatol. 1997;133:1122–1126.
  6. Elston DM, Stratman EJ, Miller SJ. Skin biopsy: Biopsy issues in specific diseases. J Am Acad Dermatol. 2016 Jan;74 (1):1-16; quiz 17-8.
  7. Lehman JS, Camilleri MJ, Gibson LE. Epidermolysis bullosa acquisita: concise review and practical considerations. Int J Dermatol. 2009 Mar;48(3):227-35; quiz 235-6
  8. Woodley D, Remington J, Chen M. Autoimmunity to type VII Collagen: Epidermolysis Bullosa Acquisita. Clin Rev Allerg Immunol. 2007;33:78–84.
  9. Vodegel RM, de Jong MC, Pas HH, Jonkman MF. IgA-mediated epidermolysis bullosa acquisita: Two cases and review of the literature. J Am Acad Dermatol. 2002;6:919–25.

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Last updated: 2019-07-11 20:10