Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia
Authors: A. Estapé, D. Josifova, D. Rampling, M. Glover, V.A. Kinsler
Journal: British Journal of Dermatology (2014)

mortality rate of patients with BP is still high, ranging from 13% to 38%. 1,2 Recently, we reported the effectiveness of rituximab, a monoclonal anti-CD20 antibody, as first-line therapy for pemphigus. 3 Therefore, we have attempted to measure the utility of rituximab as first-line therapy for BP.From 2010 to 2012 we performed a retrospective casecontrol study in a referral centre in Taiwan, including patients with the generalized form of BP requiring systemic treatment.Diagnosis of BP was based on typical clinical presentations, characteristic histopathological findings, and the presence of autoantibodies on direct and/or indirect immunofluorescence studies.In the first-line combination therapy group (group R), the regimen included four weekly infusions of 500 mg rituximab (MabThera TM ; Roche, Basel, Switzerland), and corticosteroids, with a starting dose of prednisolone of 0Á5 mg kg À1 daily (Table 1).The dose of corticosteroids was tapered rapidly after disease was controlled.Each dose lasted for 3-4 weeks, with a total duration of < 6 months.As a comparison (group C), to ensure the similarity of severity, we included patients from the same period receiving a similar starting dose of prednisolone for at least 6 months (Table 1).We excluded those with localized or mild disease, which could be controlled by topical treatment or a short course of systemic treatment.All patients were followed for 1 year or until death.In both groups, the average age, BP Disease Area Index values, 4 blood eosinophil counts and the presence of comorbidities were similar (Table 2).More than 90% of patients in group R achieved complete remission (CR), a status of no established or new lesions for at least 2 months, 4 which was significantly higher than in group C (P = 0Á02).Notably, eight of the patients achieving CR in group R achieved CR off therapy (CRoff).Of these eight patients, four maintained CRoff during the follow-up period of > 2 years.The other four experienced disease recurrence.Nevertheless, relapses in these cases were mild and easily controlled.The mean duration of CRoff in these four patients was 27 weeks (range 22-35 weeks).The risk of infection was slightly lower in group R than in group C (31% vs. 53%), but it was not statistically significant (P = 0Á22).Urinary tract infection and pneumonia were the leading infections in groups R and C, respectively.The 1-year mortality rate of group R was much lower than that of group C (15% vs. 37%), but it was not significantly different (P = 0Á18).To date, only anecdotal reports have mentioned the use of rituximab in BP. 5,6 Our study is the first to use rituximab as a firstline treatment in BP, and demonstrates a significantly better rate of CR than conventional treatment.A recent review article reports infection and mortality rates of around 20%, and suggests that careful and close monitoring may be neccessary. 7 These results are consistent with ours.Indeed, infections are the most important cause of mortality in our study, as also reported in another study. 8 Nevertheless, our study provides a comparison and shows that first-line combination therapy has similar or even lower rates of infection and mortality than conventional treatment.This might result from rapid tapering and withdrawing systemic corticosteroids in group R (Table 2), as a lower dose of systemic corticosteroids may reduce the rate of mortality. 9 In conclusion, we demonstrate that first-line combination therapy with rituximab and corticosteroids is effective and relatively safe for moderate-to-severe BP.A large prospective study is needed to confirm our observations.