Clinical and immunopathological evaluation of epidermolysis bullosa acquisita

Delgado, Luís; Aoki, Valéria; Santi, Cláudia Giuli; Gabbi, Tatiana Villas Boas; Sotto, Mírian Nacagami; Maruta, Celina Wakisaka

doi:10.1111/j.1365-2230.2010.03845.x

Cited by 37 publications

(37 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…We provided detailed clinical and immunological characteristics of our 19 consecutive black EBA patients. Numerous reviews concerned EBA (Gammon, 1988;Woodley, 1988;Woodley et al, 1988Woodley et al, , 2007 but, to our knowledge, detailed information was reported only for two EBA series (Briggaman et al, 1985;Delgado et al, 2010) and only three papers provided data on black EBA patients Chan et al, 1996;Howard and Brunner, 2009). Comparing our observations with the literature, the most striking EBA particularities in black patients of African descent are their young age, the high frequencies of inflammatory forms, MM involvement, severely compromising esthetic impact and adverse cutaneous drug reactions to EBA therapeutic agents, a rare association with Crohn's disease, and poor prognoses (3 deaths among the 11 patients with follow-up).…”

Section: Discussionmentioning

confidence: 93%

Black Patients of African Descent and HLA-DRB1*15:03 Frequency Overrepresented in Epidermolysis Bullosa Acquisita

Zumelzu

Roux–Villet

Loiseau

et al. 2011

Journal of Investigative Dermatology

View full text Add to dashboard Cite

Epidermolysis bullosa acquisita (EBA) is a rare autoimmune bullous disease (AIBD). However, higher EBA incidence and predisposing genetic factor(s) involving an HLA haplotype have been suspected in some populations. This retrospective study assessed the overrepresentation of black patients with EBA, its link with HLA-DRB1*15:03, and their clinical and immunological characteristics. Between 2005 and 2009, 7/13 (54%) EBA and 6/183 (3%) other-AIBD patients seen consecutively in our department were black (P=10(-6)); moreover 7/13 (54%) black patients and 6/183 (3%) white patients had EBA (P=10(-6)). In addition, between 1983 and 2005, 12 black patients had EBA. Finally, among the 19 black EBA patients, most of them had very atypical clinical presentations, 9 were natives of sub-Saharan Africa, 1 from Reunion Island, 7 from the West Indies, and 2 were of mixed ancestry. HLA-DRB1*15:03 allelic frequencies were 50% for African patients, significantly higher than the control population (P<10(-3)), and 21% for the West Indians (nonsignificant). High EBA frequencies have already been reported in American blacks significantly associated with the HLA-DR2. In conclusion, black-skinned patients developing EBA seem to have a genetic predisposition, and EBA should be suspected systematically for every AIBD seen in this population.

show abstract

Section: Discussionmentioning

confidence: 93%

Black Patients of African Descent and HLA-DRB1*15:03 Frequency Overrepresented in Epidermolysis Bullosa Acquisita

Zumelzu

Roux–Villet

Loiseau

et al. 2011

Journal of Investigative Dermatology

View full text Add to dashboard Cite

show abstract

“…Dystrophic EB, one of the most severe subtypes of EB, is a subepidermal blistering disease with an incidence estimated at one case in every 300,000 newborns [3]. Its genetic basis lies in a mutation of the COL7A1 gene encoding collagen VII, a protein that connects the epidermal basement membrane to the dermal connective tissue in the dermoepidermal junction [4].…”

mentioning

confidence: 99%

Esophageal stenosis in epidermolysis bullosum:a challenge for the endoscopist

Angelis

Caldaro

Torroni

et al. 2011

Journal of Pediatric Surgery

View full text Add to dashboard Cite

“…This indicated the presence of antinuclear antibodies (ANA), and these findings further correlated with the presence of antibodies against the dermal side of the basement membrane on their respective SSS substrates. These results are suggestive of bullous systemic lupus erythematosus (BSLE) or EBA as recently published studies have found positive ANA in 25% of patients . EUROIMMUN have developed alternative BIOCHIP slides with Collagen VII to screen for BSLE or EBA that has demonstrated promising results …”

Section: Discussionmentioning

confidence: 70%

Inter‐rater reliability of the BIOCHIP indirect immunofluorescence dermatology mosaic in bullous pemphigoid and pemphigus patients

Yang

Xuan

Melbourne

et al. 2019

Acad Dermatol Venereol

View full text Add to dashboard Cite

Background The BIOCHIP (Dermatology Mosaic 7; EUROIMMUN, Lubeck, Germany) is a novel multiplex indirect immunofluorescence (IIF) technique used in the serological diagnosis of bullous pemphigoid (BP) and pemphigus. Objective To validate the accuracy and inter‐rater reliability (IRR) of the BIOCHIP in the diagnosis of BP, pemphigus foliaceus (PF) and pemphigus vulgaris (PV). Methods Sera from patients with BP (n = 38), PF (n = 8), PV (n = 23), control patients (n = 64) and healthy control volunteers (n = 39) were tested. Sera were collected and analysed during the course of the disease at 1–5 different time points. The BIOCHIP was performed for all patients, digital images were captured of each incubated field, and the images were shared with 10 dermatologists experienced in reading IF from around the world to report. There were 312 BIOCHIP slides consisting of 1872 photos in total. All patients were de‐identified. Fleiss Kappa was used to estimate the IRR. Results Fleiss Kappa was computed for each category (Oesophagus, Oesophagus immunofluorescence pattern, Salt‐Split Skin (SSS), SSS immunofluorescence location, BP180, BP230, Dsg 1 and Ds3). The inter‐rater agreement between the 10 raters varied between fair and moderate for all categories. Those that demonstrated fair concordance included monkey oesophagus (k = 0.257, P < 0.0001), oesophagus pattern (k = 0.357, P < 0.0001), Dsg1 (k = 0.390, P < 0.0001) and BP230 (k = 0.281, P < 0.0001). Moderate agreement was demonstrated for SSS (k = 0.416, P < 0.0001), SSS immunofluorescence location (k = 0.505, P < 0.0001), Dsg3 (k = 0.437, P < 0.0001) and BP180 (k = 0.559, P < 0.0001). Conclusion The BIOCHIP mosaic‐based immunofluorescence test is a simple, time and effort saving test that can aid in the diagnosis and screening of BP, PV and PF. However, the level of agreement was relatively low. The authors found the most common causes to be variable levels of training, indicating the presence of a learning curve in the interpretation of the results and ambiguous staining patterns leading to incongruent results.

show abstract

Clinical and immunopathological evaluation of epidermolysis bullosa acquisita

Abstract: Mucosal involvement in EBA is a determining factor for disease morbidity. Complete evaluation of the patient, focusing on both cutaneous and extracutaneous sites is essential, as EBA may evolve to refractory disease, severely compromising its outcome.

Cited by 37 publications

References 18 publications

Black Patients of African Descent and HLA-DRB1*15:03 Frequency Overrepresented in Epidermolysis Bullosa Acquisita

Black Patients of African Descent and HLA-DRB1*15:03 Frequency Overrepresented in Epidermolysis Bullosa Acquisita

Esophageal stenosis in epidermolysis bullosum:a challenge for the endoscopist

Inter‐rater reliability of the BIOCHIP indirect immunofluorescence dermatology mosaic in bullous pemphigoid and pemphigus patients

Contact Info

Product

Resources

About