56: Epidermolysis Bullosa Acquisita

Question 1

What is the etiology of Epidermolysis Bullosa Acquisita (EBA)?

Answer 1

EBA is a chronic, subepidermal blistering disease associated with autoimmunity to Type VII collagen within anchoring fibril structures at the dermal-epidermal junction (DEJ). The precise etiology is unknown, but IgG autoantibodies directed to Type VII collagen are linked to a reduction in normal anchoring fibrils at the basement membrane zone (BMZ) and poor epidermal-dermal adherence.

Question 2

What are the clinical findings in a patient with Epidermolysis Bullosa Acquisita?

Answer 2

If a patient presents with bullae in the skin without a reasonable explanation, three tests should be performed: 1. Skin biopsy for routine hematoxylin and eosin histology 2. Direct immunofluorescence (DIF) of perilesional skin 3. Indirect immunofluorescence (IIF) or ELISA for antibodies against the BMZ and/or Type VII collagen. The common denominator for patients with EBA is autoimmunity to Type VII (anchoring fibril) collagen.

Question 3

What are the characteristics of the classical presentation of Epidermolysis Bullosa Acquisita?

Answer 3

The classical presentation of EBA includes: - A noninflammatory bullous disease with an acral distribution that heals with scarring and milia formation. - It resembles porphyria cutanea tarda (PCT) when mild and hereditary forms of recessive dystrophic EB when severe. - Marked skin fragility with erosions and tense blisters on trauma-prone surfaces (e.g., back of hands, knuckles, elbows). - Some blisters may be hemorrhagic or develop scales, crusts, or erosions. - Scarring alopecia and nail dystrophy may also be present.

Question 4

What distinguishes the Bullous Pemphigoid-like presentation of Epidermolysis Bullosa Acquisita?

Answer 4

The Bullous Pemphigoid-like presentation of EBA is characterized by: - Widespread, inflammatory vesiculobullous eruption involving the trunk, central body, and skin folds, in addition to extremities. - Tense blisters surrounded by inflamed or urticarial skin. - Large areas of inflamed skin may be seen without any blisters, presenting only as erythema or urticarial plaques. - Pruritus is present, but prominent skin fragility, scarring, and milia formation are absent.

Question 5

What is the significance of IgG autoantibodies in Epidermolysis Bullosa Acquisita?

Answer 5

IgG autoantibodies in EBA bind to Type VII collagen alpha chains, leading to a reduction in anchoring fibrils. This reduction is associated with decreased stability of the anchoring fibrils, which are crucial for the adherence of the epidermis to the underlying dermis.

Question 6

What are the common denominators for patients with Epidermolysis Bullosa Acquisita (EBA)?

Answer 6

The common denominators for patients with EBA are autoimmunity to Type VII (anchoring fibril) collagen and the presence of subepidermal blisters.

Question 7

A patient presents with bullae on the skin without a clear explanation. What three diagnostic tests should be performed to confirm Epidermolysis Bullosa Acquisita (EBA)?

Answer 7

The three diagnostic tests are: 1) Skin biopsy for routine hematoxylin and eosin histology, 2) Direct immunofluorescence (DIF) of perilesional skin, and 3) Indirect immunofluorescence (IIF) or ELISA for antibodies against the basement membrane zone (BMZ) and/or Type VII collagen.

Question 8

A patient with EBA presents with tense blisters surrounded by inflamed skin. What clinical presentation does this describe, and what are its key features?

Answer 8

This describes the Bullous Pemphigoid-like presentation. Key features include widespread inflammatory vesiculobullous eruptions involving the trunk, central body, and skin folds, tense blisters surrounded by inflamed or urticarial skin, and large areas of inflamed skin without blisters. Pruritus is present, but there is no prominent skin fragility, scarring, or milia formation.

Question 9

A patient with EBA has erosions and scars on mucosal surfaces such as the mouth and esophagus. What clinical presentation does this describe?

Answer 9

This describes the Mucous Membrane Pemphigoid-like presentation. It is characterized by predominant mucosal involvement with erosions and scars on surfaces such as the mouth, upper esophagus, conjunctiva, anus, or vagina, with or without similar lesions on the glabrous skin.

Question 10

A patient with EBA has a chronic, recurrent vesiculobullous eruption localized to the head and neck with residual scars. What clinical presentation does this describe?

Answer 10

This describes the Brunsting-Perry Pemphigoid-like presentation. It is characterized by chronic, recurrent vesiculobullous eruptions localized to the head and neck, residual scars, subepidermal bullae, IgG deposits at the dermal-epidermal junction (DEJ), and minimal or no mucosal involvement.

Question 11

What are the key differences between Epidermolysis Bullosa Acquisita (EBA) and dystrophic forms of hereditary Epidermolysis Bullosa (EB)?

Answer 11

Key differences include: 1) EBA is caused by IgG autoantibodies binding to Type VII collagen alpha chains, leading to decreased anchoring fibrils, while dystrophic forms of hereditary EB are caused by defects in the COL7A1 gene encoding Type VII collagen alpha chains. 2) EBA is an autoimmune disease, while hereditary EB is genetic.

Question 12

What are the five clinical presentations of Epidermolysis Bullosa Acquisita (EBA)?

Answer 12

The five clinical presentations of EBA are: 1) Classical presentation, 2) Bullous Pemphigoid-like presentation, 3) Mucous Membrane Pemphigoid-like presentation, 4) Brunsting-Perry Pemphigoid-like presentation, and 5) Immunoglobulin A Bullous Dermatosis-like presentation.

Question 13

What is the mechanism by which IgG autoantibodies in EBA affect Type VII collagen?

Answer 13

IgG autoantibodies in EBA bind to Type VII collagen alpha chains, preventing the formation of triple-helical structures and stable anchoring fibrils. This results in decreased anchoring fibrils and poor epidermal-dermal adherence.

Question 14

What are the characteristic findings in the Classical presentation of Epidermolysis Bullosa Acquisita (EBA)?

Answer 14

The Classical presentation is a noninflammatory bullous disease with acral distribution that heals with scarring and milia formation. It is marked by skin fragility, erosions, tense blisters within noninflamed skin, and scars over trauma-prone surfaces (e.g., back of hands, knuckles, elbows, sacral area, toes).

Question 15

What is the significance of the NC-1 domain in Type VII collagen in the context of EBA?

Answer 15

The NC-1 domain is a large globular noncollagenous amino terminus of the Type VII collagen alpha chain. Most EBA antibodies recognize four predominant antigenic epitopes within the NC-1 domain.

Question 16

What are the characteristic features of the Bullous Pemphigoid-like presentation of EBA?

Answer 16

The Bullous Pemphigoid-like presentation features widespread inflammatory vesiculobullous eruptions involving the trunk, central body, and skin folds, tense blisters surrounded by inflamed or urticarial skin, and large areas of inflamed skin without blisters. Pruritus is present, but there is no prominent skin fragility, scarring, or milia formation.

Question 17

What are the characteristic features of the Classical presentation of EBA?

Answer 17

The Classical presentation is a noninflammatory bullous disease with acral distribution that heals with scarring and milia formation. It is marked by skin fragility, erosions, tense blisters within noninflamed skin, and scars over trauma-prone surfaces (e.g., back of hands, knuckles, elbows, sacral area, toes).

Question 18

What are the characteristic features of the Mucous Membrane Pemphigoid-like presentation of EBA?

Answer 18

This presentation is characterized by predominant mucosal involvement with erosions and scars on surfaces such as the mouth, upper esophagus, conjunctiva, anus, or vagina, with or without similar lesions on the glabrous skin.

Question 19

What are the key clinical findings that should be investigated if a patient presents with bullae in the skin without a reasonable explanation?

Answer 19

If a patient presents with bullae in the skin with no reasonable explanation, the following 3 tests should be done: 1. Skin biopsy for routine hematoxylin and eosin histology 2. DIF of perilesional skin 3. IIF or ELISA for antibodies against the BMZ and/or Type VII collagen.

Question 20

How does the classical presentation of Epidermolysis Bullosa Acquisita (EBA) compare to the presentation of porphyria cutanea tarda (PCT)?

Answer 20

The classical presentation of EBA is characterized by: - A noninflammatory bullous disease with an acral distribution that heals with scarring and milia formation. - It is reminiscent of PCT when mild but lacks other hallmarks of PCT such as hirsutism, photodistribution, or scleroderma-like changes. - EBA may also show skin fragility, erosions, tense blisters, and scars over trauma-prone surfaces.

Question 21

What distinguishes the Bullous Pemphigoid-like presentation of EBA from the classical presentation?

Answer 21

The Bullous Pemphigoid-like presentation of EBA is characterized by: - Widespread, inflammatory vesiculobullous eruption involving the trunk, central body, and skin folds, in addition to extremities. - Lesions are tense blisters surrounded by inflamed or urticarial skin. - Large areas of inflamed skin may be seen without any blisters, presenting only as erythema or urticarial plaques.

Question 22

What is the significance of IgG autoantibodies in the pathogenesis of Epidermolysis Bullosa Acquisita (EBA)?

Answer 22

IgG autoantibodies in EBA are significant because they: - Bind to Type VII collagen alpha chains, leading to a reduction in anchoring fibrils at the basement membrane zone (BMZ). - Result in poor epidermal-dermal adherence, contributing to the blistering seen in EBA.

Question 23

What are the common clinical presentations of Epidermolysis Bullosa Acquisita (EBA)?

Answer 23

The common clinical presentations of EBA include: 1. Classical Presentation: Noninflammatory bullous disease with acral distribution, scarring, and milia formation. 2. Bullous Pemphigoid-like Presentation: Widespread vesiculobullous eruption with tense blisters and inflamed skin. 3. Mucous Membrane Pemphigoid-like Presentation: Predominant mucosal involvement with erosions and scars on mucosal surfaces.

Question 24

What are the key laboratory tests used for diagnosing Epidermolysis Bullosa Acquisita (EBA)?

Answer 24

The key laboratory tests for diagnosing EBA include: 1. Histopathology: Shows a subepidermal blister and clean separation between the epidermis and dermis. 2. Direct Immunofluorescence (DIF): Detects IgG deposits within the dermal-epidermal junction (DEJ). 3. Immunoelectron Microscopy: Considered the ‘gold standard’ for diagnosis.

Question 25

What are the common complications associated with Epidermolysis Bullosa Acquisita (EBA)?

Answer 25

Common complications associated with EBA include: - Secondary skin infections: Often caused by Staphylococcus or Streptococcus. - Scarring and milia formation: Resulting from skin damage. - Fibrosis of the hands: Leading to decreased range of motion in the palms and digits.

Question 26

What supportive treatment measures are recommended for patients with Epidermolysis Bullosa Acquisita (EBA)?

Answer 26

Supportive treatment measures for EBA include: - Wound care: Instruct patients to avoid trauma to the skin. - Hygiene practices: Avoid over washing or using hot water and harsh soaps.

Question 27

What is the significance of the 145-kDa band in Western blotting for EBA?

Answer 27

The 145-kDa band represents the amino terminal globular NC-1 domain of the Type VII collagen alpha chain, which is often labeled with EBA antibodies.

Question 28

What is the gold standard diagnostic method for Epidermolysis Bullosa Acquisita (EBA)?

Answer 28

The gold standard diagnostic method for EBA is immunoelectron microscopy, which identifies immune deposits within the sublamina densa zone of the cutaneous basement membrane zone (BMZ).

Question 29

A patient with EBA has IgG autoantibodies that bind to a 290-kDa band in Western blotting. What does this band represent?

Answer 29

The 290-kDa band represents Type VII collagen in the basement membrane. A second band of 145-kDa, which is the amino terminal globular NC-1 domain of the Type VII collagen alpha chain, may also be labeled with EBA antibodies.

Question 30

What are the primary systemic diseases associated with Epidermolysis Bullosa Acquisita (EBA)?

Answer 30

Primary systemic diseases associated with EBA include inflammatory bowel disease (IBD), systemic lupus erythematosus (SLE), amyloidosis, thyroiditis, multiple endocrinopathy syndrome, rheumatoid arthritis (RA), pulmonary fibrosis, chronic lymphocytic leukemia (CLL), thymoma, diabetes, multiple myeloma, and other autoimmune diseases.

Question 31

What are the complications of Epidermolysis Bullosa Acquisita (EBA) that can affect mobility and daily activities?

Answer 31

Complications include secondary skin infections, scarring, and fibrosis of the hands and feet, which may lead to decreased range of motion and difficulty walking.

Question 32

What are the primary systemic diseases associated with Epidermolysis Bullosa Acquisita (EBA)?

Answer 32

Primary systemic diseases associated with EBA include inflammatory bowel disease (IBD), systemic lupus erythematosus (SLE), amyloidosis, thyroiditis, multiple endocrinopathy syndrome, rheumatoid arthritis (RA), pulmonary fibrosis, chronic lymphocytic leukemia (CLL), thymoma, diabetes, multiple myeloma, and other autoimmune diseases. IBD is the most frequently associated systemic disease.

Question 33

What are the complications of Epidermolysis Bullosa Acquisita (EBA) that can affect mobility and daily activities?

Answer 33

Complications include secondary skin infections (e.g., Staphylococcus or Streptococcus), scarring and milia formation, fibrosis of the hands with decreased range of motion of the palm and digits, wounds and fibrosis of the soles of the feet and toes leading to difficulty walking, and significant mucosal involvement causing esophageal strictures and laryngeal scarring.

Question 34

How can direct salt-split skin immunofluorescence help distinguish between EBA and Bullous Pemphigoid (BP)?

Answer 34

In direct salt-split skin immunofluorescence, perilesional skin is incubated in cold 1 molar NaCl, which fractures the dermal-epidermal junction (DEJ). If the serum antibody is IgG and labels the epidermal roof, BP should be considered. If the antibody labels the dermal side, the patient usually has either EBA or bullous SLE.

Question 35

What are the findings in histopathology for EBA?

Answer 35

Histopathology shows a subepidermal blister and a clean separation between the epidermis and dermis. The degree of inflammatory infiltrate reflects the inflammation of the lesion.

Question 36

What laboratory test is more sensitive than immunofluorescence and Western blotting for detecting antibodies to Type VII collagen in EBA?

Answer 36

The enzyme-linked immunosorbent assay (ELISA) is more sensitive than immunofluorescence and Western blotting and is very specific for detecting antibodies to Type VII collagen.

Question 37

What is the primary immunoglobulin class detected in direct immunofluorescence (DIF) of perilesional skin in EBA?

Answer 37

The primary immunoglobulin class detected in DIF of perilesional skin in EBA is IgG. Deposits of complement, IgA, IgM, factor B, and properidin may also be detected.

Question 38

What are the potential complications of significant mucosal involvement in EBA?

Answer 38

Significant mucosal involvement may result in esophageal strictures and laryngeal scarring.

Question 39

What are the findings in indirect salt-split skin immunofluorescence for EBA?

Answer 39

In indirect salt-split skin immunofluorescence, human skin is incubated in 1 molar NaCl, causing the dermal-epidermal junction (DEJ) to fracture through the lamina lucida zone. If the serum antibody labels the dermal side, the patient usually has EBA or bullous SLE.

Question 40

What are the physical findings in EBA that are similar to hereditary dystrophic Epidermolysis Bullosa (EB)?

Answer 40

Similar physical findings include oral lesions, esophageal strictures, hypo- and hyperpigmentation skin mottling, nail loss, milia formation, scarring, and fibrosis of the hands.

Question 41

What are the findings in direct immunofluorescence (DIF) of perilesional skin in EBA?

Answer 41

DIF of perilesional skin shows IgG deposits within the dermal-epidermal junction (DEJ). Intense linear fluorescent bands at the DEJ and deposits of complement, IgA, IgM, factor B, and properidin may also be detected.

Question 42

What are the characteristic features of the Immunoglobulin A Bullous Dermatosis-like presentation of EBA?

Answer 42

This presentation is characterized by subepidermal bullous eruptions, a neutrophilic infiltrate, and linear IgA deposits at the basement membrane zone (BMZ) when viewed by DIF. It may feature tense vesicles arranged in an annular fashion and involvement of mucous membranes.

Question 43

What are the findings in direct salt-split skin immunofluorescence for EBA?

Answer 43

In direct salt-split skin immunofluorescence, perilesional skin is incubated in cold 1 molar NaCl, which fractures the dermal-epidermal junction (DEJ). Findings are similar to those in indirect salt-split skin immunofluorescence.

Question 44

What are the findings in Western blotting for EBA?

Answer 44

Western blotting shows antibodies in EBA sera binding to a 290-kDa band (Type VII collagen) and often a second band of 145-kDa (amino terminal globular NC-1 domain of the Type VII collagen alpha chain).

Question 45

What are the key laboratory tests used for diagnosing EBA and their significance?

Answer 45

The key laboratory tests for diagnosing EBA include: 1. **Histopathology**: Shows a subepidermal blister and clean separation between the epidermis and dermis, reflecting the degree of inflammation. 2. **Direct Immunofluorescence (DIF)**: Detects IgG deposits at the DEJ, with positive results indicating the presence of autoantibodies necessary for EBA diagnosis. 3. **Immunoelectron Microscopy**: Considered the 'gold standard' for EBA diagnosis, showing immune deposits in the sublamina densa zone. 4. **Indirect Salt-Split Skin Immunofluorescence**: Distinguishes between EBA and BP sera by observing antibody labeling patterns. 5. **Direct Salt-Split Skin Immunofluorescence**: Similar findings to indirect testing, confirming the diagnosis. 6. **Western Immunoblotting**: Identifies specific bands related to Type VII collagen, confirming EBA. 7. **Enzyme-Linked Immunosorbent Assay (ELISA)**: More sensitive and specific for antibodies to Type VII collagen.

Question 46

What are the common complications associated with EBA and their clinical implications?

Answer 46

Common complications associated with EBA include: - **Secondary skin infections**: Such as Staphylococcus or Streptococcus, which can exacerbate skin lesions. - **Scarring and milia formation**: Resulting in cosmetic concerns and potential discomfort. - **Fibrosis of the hands**: Leading to decreased range of motion in the palm and digits, affecting daily activities. - **Wounds and fibrosis of the feet and toes**: May result in difficulty walking, impacting mobility. - **Nail loss**: Can lead to aesthetic and functional issues. - **Mucosal involvement**: May cause esophageal strictures and laryngeal scarring, leading to swallowing difficulties and respiratory issues.

Question 47

What supportive treatment measures are recommended for patients with EBA?

Answer 47

Supportive treatment measures for patients with EBA include: 1. **Wound care**: Proper management to prevent infections and promote healing. 2. **Avoid trauma**: Instruct patients to minimize injury to affected areas. 3. **Skin care**: Advise against over washing or using hot water and harsh soaps to prevent skin irritation. 4. **Gentle handling**: Avoid prolonged or vigorous rubbing with washcloths or towels to reduce skin damage.

Question 48

What are the common treatment options for Epidermolysis Bullosa Acquisita (EBA)?

Answer 48

Common treatment options for EBA include: | Medication | Dose Range | |--------------------------|--------------------------| | Colchicine | 0.6-3.0 mg/d | | Cyclosporine A | 6 mg/kg/d | | Dapsone | 100-300 mg/d | | Cytotoxan | 50-200 mg/d | | Prednisone | 1.0-1.5 mg/kg/d | | Intravenous immunoglobulin| 3 g/kg divided over 5 d | | Infliximab | 5 mg/kg at 0, 2, 4, 6 wk | | Rituximab | 375 mg/m² of BSA, 1 weekly x 4 wk or 1000 mg on week 1 and 3 |

Question 49

What is the role of plasmapheresis in the treatment of EBA?

Answer 49

Plasmapheresis is used in the treatment of EBA to: - Remove antibodies to Type VII collagen, which is beneficial for gaining control of the disease. - It is necessary to treat patients with chemotherapy agents while undergoing plasmapheresis, such as azathioprine, cyclophosphamide, MMF, and methotrexate.

Question 50

What are the side effects associated with colchicine when used for EBA?

Answer 50

The common side effect of colchicine when used for EBA is: - **Diarrhea**, which can lead to conflicts in administration for patients with EBA and inflammatory bowel disease (IBD). Additionally, there are patients who may be unresponsive to colchicine treatment.

Question 51

How does photopheresis affect the clinical features of EBA?

Answer 51

Photopheresis improves the clinical features of EBA by: - Lengthening the suction blistering times, which can enhance the overall management of the condition.

Question 52

What is the significance of dapsone in the treatment of EBA?

Answer 52

Dapsone is significant in the treatment of EBA because: - Some patients improve on dapsone, especially when neutrophils are present in the dermal infiltrate, indicating its potential effectiveness in certain cases of EBA.

Question 53

What is the role of colchicine in the treatment of Epidermolysis Bullosa Acquisita (EBA), and what is a common side effect?

Answer 53

Colchicine is often used as a first-line drug for EBA, especially when neutrophils are present in the dermal infiltrate. A common side effect of colchicine is diarrhea.

Question 54

What is the role of IVIG in the treatment of Epidermolysis Bullosa Acquisita (EBA)?

Answer 54

IVIG has been reported to be effective in patients with EBA, particularly in refractory cases.

Question 55

What supportive therapies are recommended for all patients with Epidermolysis Bullosa Acquisita (EBA)?

Answer 55

Supportive therapies include wound care, avoiding trauma, avoiding overwashing or overusing hot water or harsh soaps, avoiding prolonged or vigorous rubbing with washcloths or towels, and avoiding prolonged sun exposure (use sunscreen). Patients should also be educated to recognize localized skin infections.

Question 56

What is the role of photopheresis in the treatment of Epidermolysis Bullosa Acquisita (EBA)?

Answer 56

Photopheresis improves the clinical features of EBA and lengthens the suction blistering times.

Question 57

What are the treatment options for refractory cases of Epidermolysis Bullosa Acquisita (EBA)?

Answer 57

Treatment options for refractory EBA include plasmapheresis with chemotherapy agents (e.g., azathioprine, cyclophosphamide, MMF, methotrexate), IVIG, anti-TNF-alpha biologics (e.g., infliximab), and rituximab.

Question 58

What is the role of dapsone in the treatment of Epidermolysis Bullosa Acquisita (EBA)?

Answer 58

Dapsone is used in the treatment of EBA, especially when neutrophils are present in the dermal infiltrate.

Question 59

What is the role of anti-TNF-alpha biologics in the treatment of Epidermolysis Bullosa Acquisita (EBA)?

Answer 59

Anti-TNF-alpha biologics, such as infliximab, have shown some success in uncontrolled open trials for the treatment of EBA.

Question 60

What is the role of rituximab in the treatment of Epidermolysis Bullosa Acquisita (EBA)?

Answer 60

Rituximab has shown efficacy in recalcitrant cases of EBA.

Question 61

What are the common treatment options for patients with Epidermolysis Bullosa Acquisita (EBA) that have shown some efficacy according to medical literature?

Answer 61

Common treatment options for EBA include: 1. **Colchicine** - Often used as a first-line drug; may cause diarrhea. 2. **Dapsone** - Some improvement noted, especially with neutrophils present. 3. **Photopheresis** - Improves clinical features and lengthens blistering times. 4. **Plasmapheresis** - Useful for gaining control by removing antibodies to Type VII collagen. 5. **IVIG** - Reported to be effective in some patients. 6. **Anti-TNF-α biologics** (e.g., Infliximab) - Some success in uncontrolled trials. 7. **Rituximab** - Shown efficacy in recalcitrant cases of EBA.

Question 62

What are the potential side effects and considerations when using colchicine in the treatment of EBA?

Answer 62

When using colchicine for EBA, the following considerations and side effects should be noted: - **Common Side Effect**: Diarrhea, which may conflict with administration in patients who also have inflammatory bowel disease (IBD). - **Patient Response**: Some patients may be unresponsive to colchicine. - **Dosage Adjustment**: If diarrhea occurs, the dosage may need to be reduced.

Question 63

How does photopheresis contribute to the management of Epidermolysis Bullosa Acquisita (EBA)?

Answer 63

Photopheresis contributes to the management of EBA by: - **Improving Clinical Features**: It enhances the overall appearance of the skin. - **Lengthening Suction Blistering Times**: This can lead to a reduction in the frequency of blister formation, improving patient comfort and quality of life.

Question 64

What is the role of plasmapheresis in the treatment of Epidermolysis Bullosa Acquisita (EBA)?

Answer 64

Plasmapheresis plays a significant role in the treatment of EBA by: - **Removing Antibodies**: It helps in the removal of antibodies to Type VII collagen, which is crucial for gaining control over the disease. - **Combination with Chemotherapy**: It is necessary to treat patients with chemotherapy agents (e.g., azathioprine, cyclophosphamide) while undergoing plasmapheresis for optimal results.

Question 65

What is the significance of direct immunofluorescence (DIF) in diagnosing epidermolysis bullosa acquisita (EBA)?

Answer 65

Direct immunofluorescence (DIF) is significant in diagnosing EBA as it helps identify the presence of **immunoglobulin G (IgG)** deposits at the **dermal-epidermal junction**. In EBA, these deposits remain in the dermal floor of the fractured skin, which is crucial for differentiating EBA from other blistering disorders like bullous pemphigoid.

Question 66

How does the presentation of epidermolysis bullosa acquisita differ from other blistering diseases?

Answer 66

Epidermolysis bullosa acquisita typically presents with severe **blistering**, **erosions**, **scarring**, and **milia** formation, particularly in **trauma-prone areas** of the skin. This classic presentation can be distinguished from other blistering diseases by the specific patterns of skin involvement and the immunological findings.

Question 67

What are the implications of a negative result in direct immunofluorescence for a patient suspected of having EBA?

Answer 67

A negative result in direct immunofluorescence does not rule out epidermolysis bullosa acquisita (EBA) entirely. It indicates that **EBA is still possible**, and further diagnostic tests or clinical evaluations may be necessary to confirm the diagnosis or consider other differential diagnoses.

Question 68

What role does the enzyme-linked immunosorbent assay (ELISA) play in the diagnosis of epidermolysis bullosa acquisita?

Answer 68

The enzyme-linked immunosorbent assay (ELISA) is used to detect **circulating anti-BMZ antibodies** in patients suspected of having epidermolysis bullosa acquisita (EBA). A positive ELISA result supports the diagnosis of EBA and helps differentiate it from other blistering disorders.

Question 69

What role does the enzyme-linked immunosorbent assay (ELISA) play in the diagnosis of epidermolysis bullosa acquisita?

Answer 69

The enzyme-linked immunosorbent assay (ELISA) is used to detect circulating anti-BMZ antibodies in patients suspected of having epidermolysis bullosa acquisita (EBA). A positive ELISA result supports the diagnosis of EBA and helps differentiate it from other blistering disorders.

Question 70

What is the significance of direct immunofluorescence (DIF) in diagnosing epidermolysis bullosa acquisita (EBA)?

Answer 70

Direct immunofluorescence (DIF) is crucial in diagnosing EBA as it reveals the presence of IgG deposits at the dermal-epidermal junction. In EBA, these deposits remain in the dermal floor of the fractured skin, indicating the presence of the disease, while in other conditions like bullous pemphigoid, the deposits would remain at the epidermal roof.

Question 71

How does the clinical presentation of epidermolysis bullosa acquisita differ from that of bullous pemphigoid?

Answer 71

Epidermolysis bullosa acquisita (EBA) typically presents with severe blistering, erosions, and scarring in trauma-prone areas, while bullous pemphigoid usually presents with tense blisters on normal or inflamed skin. EBA may also show milia formation and has a more inflammatory appearance compared to the classic presentation of bullous pemphigoid.

Question 72

What are the implications of a negative result in direct immunofluorescence for a patient suspected of having EBA?

Answer 72

A negative result in direct immunofluorescence (DIF) does not rule out epidermolysis bullosa acquisita (EBA). It suggests that while IgG deposits are not detected, EBA is still possible, and further diagnostic tests such as salt-split skin immunofluorescence (IIF) or serological tests for circulating anti-BMZ antibodies may be warranted to confirm the diagnosis.