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.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
A 64-year-old patient developed a widespread autoimmune mucocutaneous blistering disease 3 weeks after the initiation of the anti-programmed death-1 (anti-PD-1) pembrolizumab therapy administered for ...a locally advanced cutaneous squamous cell carcinoma (SCC) of the buttocks arising from hidradenitis suppurativa. A diagnosis of paraneoplastic pemphigus (PNP) was made based on the presence of a suprabasal acantholysis associated with intercellular deposits of immunoglobulin G and C3 on basement membrane zone. Analysis of the patient's sera was positive on monkey bladder and detected circulating antibodies against desmoglein 3 and desmoplakin I prior to the initiation of pembrolizumab. At that time, the patient had few localized blisters limited to the peri-tumoral skin of the buttocks with acantholysis but without
in vivo
immune deposits. Pembrolizumab therapy was discontinued and a complete remission of PNP was obtained using oral steroids. Reintroduction of pembrolizumab resulted in flare of PNP. Given the close temporal relation between pembrolizumab initiation and the subsequent clinical expression of a widespread PNP, the patient was diagnosed with pre-existing subclinical PNP exacerbated by PD-1 inhibitor. The extreme rarity of PNP in the setting of cutaneous SCC and the effects of challenge, dechallenge, and rechallenge of pembrolizumab argue in favor of a checkpoint inhibitor related adverse effect. Our case is the first PNP associated with anti-PD-1 therapy and serological follow-up suggest that one infusion of pembrolizumab is sufficient to allow clinical expression of underlying pemphigus auto-immunity.
Summary
Background Mucous membrane pemphigoid (MMP) still represents a potentially life‐ and sight‐threatening disease. Immunosuppressants, such as cyclophosphamide (CYC), are indicated for patients ...with severe and/or refractory MMP.
Objectives To evaluate the efficacy and safety of daily oral CYC without corticosteroids as therapy for severe MMP.
Methods Thirteen patients with severe refractory MMP, who received oral CYC at an initial dose of 2 mg kg−1 without corticosteroids, were retained. Previous treatments, for example dapsone, sulfasalazine or topical agents, were maintained during CYC treatment. Initial clinical severity and response to treatment were assessed by scoring. CYC was stopped after complete remission (CR), or when MMP progressed or lymphopenia (< 0·7 × 109 cells L−1) occurred.
Results After 52 weeks of CYC treatment, the overall response rate was 69% (9/13 patients) with a median time to disease control of 8 weeks (range 4–52 weeks). Seven patients (54%) entered CR with a median time to CR of 24 weeks (range 16–52 weeks), all remaining in CR at week 52. The mean duration of CYC administration was 12 weeks (range 2–52 weeks). The most common side effect was lymphopenia (10/13 patients), which led to CYC withdrawal for six patients. No sepsis was observed.
Conclusions CYC without corticosteroids had rapid efficacy in patients with severe refractory MMP and was safe.
What’s already known about this topic?
•
Most studies on cyclophosphamide (CYC) treatment of mucous membrane pemphigoid (MMP) have examined the effect of combined oral CYC and corticosteroids on ocular involvement.
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Some severe complications were observed, including malignancies, infectious diseases and infertility.
What does this study add?
•
We report the efficacy of CYC without steroids, evaluated with scoring of all sites potentially affected by MMP.
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The most common adverse event was transient lymphopenia without sepsis.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Background
Plasma cell gingivitis is defined as gingival inflammation comprised of plasma cell infiltrates. This diagnostic criterion is non-specific and underlying mechanisms remain unknown.
...Objectives
We performed a multidisciplinary clinico-pathological review of cases previously identified as “gingivitis with plasma cell infiltrates”, with assessment of putative contributing factors and critical appraisal of the final diagnosis.
Materials & Methods
Cases previously identified as “gingivitis with plasma cell infiltrates” between 2000 and 2020 were included from archives from the GEMUB group, a French multidisciplinary network of physicians with expertise on oral mucosa.
Results
Among the 37 included cases, multidisciplinary clinico-pathological review allowed differential diagnosis in seven cases (oral lichen planus
n
=4, plasma cell granuloma
n
=1, plasmacytoma
n
=1, and mucous membrane pemphigoid
n
=1). The remaining cases were classified as “reactive plasma cell gingivitis” (induced by drugs, trauma/irritation or periodontal disease) (
n
=18) or “idiopathic plasma cell gingivitis” when no contributing factors were identified (
n
=12). Clinico-pathological characteristics did not differ significantly between “reactive” and “idiopathic” cases, preventing us from identifying specific features of “idiopathic” plasma cell gingivitis.
Conclusion
“Plasma cell gingivitis” is a polymorphous, non-specific entity with various aetiologies, of which the diagnosis requires multidisciplinary anatomo-clinical correlation for exclusion of secondary causes of plasma cell infiltration. Although our study was limited by its retrospective design, most cases of “plasma cell gingivitis” appeared to be associated with an underlying cause. We propose a diagnostic algorithm to properly investigate such cases.
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EMUNI, FIS, FZAB, GIS, KILJ, MFDPS, SBJE, SBMB, SBNM, UKNU, UPUK, VKSCE
BACKGROUND: Mucous membrane pemphigoid (MMP) still represents a potentially life- and sight-threatening disease. In a subset of patients with severe MMP, conventional immunosuppressants are ...ineffective or contraindicated. OBSERVATIONS: Twenty-five patients with severe refractory MMP, including 5 with mucous membrane–dominant epidermolysis bullosa acquisita, received 1 or 2 cycles of rituximab (375 mg/m2 weekly for 4 weeks). Twenty-one of the patients were receiving concomitant therapy with dapsone and/or sulfasalazine therapy, which was maintained during rituximab cycles. Complete responses in all affected sites (ocular and/or extraocular) were obtained in 17 patients (68%) by a median time of 12 weeks after the first cycle, and 5 additional patients responded completely after a second cycle, yielding an 88% complete response rate. In all but 1 of the 10 patients with ocular lesions, their eyes became noninflammatory within a mean of 10 weeks. Among the 3 patients (12%) who developed severe infectious complications, 2 (8%) died; they had been receiving concomitant conventional immunosuppressants and high-dose corticosteroids and were hypogammaglobulinemic. Treatment with immunosuppressants was discontinued for all other patients, and no other infection was observed. Ten patients experienced relapse after a mean of 4 (range, 1-16) months after achieving complete responses. CONCLUSIONS: Rituximab appears to have rapid and dramatic efficacy in patients with severe, refractory MMP. The occurrence of severe infections in patients receiving concomitant conventional immunosuppressants supports using rituximab without other immunosuppressants. Controlled prospective studies are warranted to define an optimal treatment protocol.
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