A case report of the use of rituximab and the Epidermolysis Bullosa Disease Activity Scoring Index (EBDASI) in a patient with epidermolysis bullosa acquisita with extensive esophageal involvement

A 49-year-old man with recalcitrant mechanobullous epidermolysis bullosa acquisita (EBA) with significant esophageal involvement was treated with rituximab. EBA is a chronic autoimmune subepidermal bullous disease. It is characterized by skin fragility and scarring caused by circulating and tissue bound antibodies to type VII collagen. EBA is often unresponsive or poorly responsive to conventional immunosuppressive therapies such as corticosteroids, methotrexate, and cyclosporine. The burden of long-term use of immunosuppressants also limits their use in the treatment of chronic autoimmune diseases such as EBA. Since a validated and objective way of measuring disease activity in patients with EBA has not been described, we used the Epidermolysis Bullosa Disease Activity Scoring Index (EBDASI), for hereditary EB, as a surrogate to measure disease severity and activity in our patient with EBA. After three courses of rituximab over three years, our patient has achieved near complete clinical remission from disease activity. The patient’s response suggests that treatment with rituximab may be a valuable treatment regimen for severe mechanobullous EBA, which is demonstrated by paralleled declines in objective disease activity scores, the EBDASI. This is in line with recently observed beneficial effects of rituximab in the management of EBA.</p

Seasonal onychomadesis in an elderly gentleman

A 79-year-old man with a history of dementia and hypertension initially presented with a ten year history of Beau’s lines and seasonal nail shedding of his fingernails only. He denied any exposure to heavy metals, unusual activities or food. He stated that the seasonal nail shedding had been occurring for the last 5-10 years. On examination, six out of ten fingernails had been affected. He had significant toenail dystrophy. Fungal cultures and PAS staining of the toenails were negative. Routine serum biochemistry and haematology results were normal. Serum arsenic, cadmium and lead levels were also normal. Vitamin B12, zinc, folate, iron studies, thyroid function studies and homocysteine levels were also normal. Rheumatoid factor and anti-cyclic citrullinated peptide antibody antibodies were negative. Bilateral hand X-ray showed osteoarthritic change and did not show any features of psoriatic arthropathy. We discuss the case of a 79-year-old man with seasonal nail shedding, curiously affecting his fingernails only

Patient and practitioner satisfaction with tele-dermatology including Australia’s indigenous population: A systematic review of the literature

AbstractBackgroundAustralia’s health disparity, combined with evolving technologies, has evoked increasing interest and funding in health services that could address inequities. One such emerging service is tele-medicine.ObjectiveThe purpose of this report is to discuss and evaluate the current literature regarding patient and practitioner satisfaction with tele-medicine, and more specifically tele-dermatology.MethodsWe searched for literature relevant to tele-dermatology use among Australia’s indigenous population. We synthesized the literature in our report and identified elements of tele-dermatology not yet researched.ResultsMost significantly, all available research is currently based on descriptive studies and there is no validated tool to assess the efficacy of tele-dermatology.LimitationsNo published research currently exists on the use of tele-dermatology among Australia’s indigenous population.ConclusionA review of the literature shows that tele-dermatology is considered a valuable service, particularly to patients living in rural areas who might not otherwise have access to specialist care

Differences in Disease-specific Quality of Life in Patients with Actinic Keratosis in Australia and Denmark

Actinic keratosis (AK) negatively influence patients’quality of life as measured by the disease-specific AKQOL questionnaire. The quality of life in Australian patients are significantly less affected than in Danish patients. It is hypothesised that general factors, such as public awareness and cultural connotations, may  influence the impact of AK on QoL.</p

Epidemiology of epidermolysis bullosa in the antipodes: The Australasian epidermolysis bullosa registry with a focus on Herlitz junctional epidermolysis bullosa

To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. Design: Observational study (cross-sectional and longitudinal). Setting: Australian private dermatology practice, inpatient ward, and outpatient clinic. Patients: Systematic case finding of patients with EB simplex, junctional EB (JEB), and dystrophic EB and data collection were performed throughout Australia and New Zealand from January 1, 2006, through December 31, 2008. Patients were consecutively enrolled in the study after clinical assessment and laboratory diagnosis. Medical records were retrospectively examined, and physicians involved in EB care were contacted to obtain patient history. A Herlitz JEB case series was prepared from registry data. Main Outcome Measures: Demographics and prognosis of patients with Herlitz JEB. Results: A total of 259 patients were enrolled in the study: 139 with EBS, 91 with dystrophic EB, 28 with JEB, and 1 with Kindler syndrome. Most enrollees were Australian citizens (n=243), with an Australian prevalence rate of 10.3 cases per million. The age range in the registry was birth to 99 years, with a mean and median age of 24.1 and 18.0 years, respectively. Ages were similar in patients with EBS and dominant dystrophic EB but were markedly lower in patients with JEB. Patients with Herlitz JEB (n=10) had the highest morbidity and mortality rates, with a mean age at death of 6.8 months. Sepsis, failure to thrive, and tracheolaryngeal complications were the leading causes of death. Conclusions: The Australasian EB registry is the first registry in Australia and New Zealand to provide original data on age, sex, ethnicity, and geographical and disease subtype distribution. The Australasian Herlitz JEB cohort witnessed a high infant mortality rate and poor prognosis overall

Phase 2B randomized study of nemolizumab in adults with moderate-to-severe atopic dermatitis and severe pruritus

Background: Nemolizumab targets the IL-31 receptor a subunit involved in atopic dermatitis (AD) pathogenesis. Objective: We sought to evaluate a new dosing strategy of nemolizumab in patients with AD. Methods: We performed a 24-week, randomized, double-blind, multicenter study of nemolizumab (10, 30, and 90 mg) subcutaneous injections every 4 weeks versus placebo, with topical corticosteroids in adults with moderate-to-severe AD, severe pruritus, and inadequate control with topical treatment (n 5 226). The Eczema Area and Severity Index (EASI), the peak pruritus (PP) numeric rating scale (NRS), and the Investigator’s Global Assessment (IGA) were assessed. Standard safety assessments were performed. Results: Nemolizumab improved EASI, IGA, and/or NRS-itch scores, with the 30-mg dose being most effective. Nemolizumab (30 mg) reduced EASI scores versus placebo at week 24 (268.8% vs 252.1%, P 5 .016); significant differences were observed by week 8 (P <_ .01). With significant improvement (P 5 .028) as early as week 4, IGA 0/1 rates were higher for 30 mg of nemolizumab versus placebo at week 16 (33.3% vs 12.3%, P 5 .008) but not week 24 because of an increased placebo/topical corticosteroid effect (36.8% vs 21.1%, P 5 .06). PP-NRS scores were improved for 30 mg of nemolizumab versus placebo at week 16 (268.6% vs 234.3%, P <.0001) and week 24 (267.3% vs 235.8%, P <.0001), with a difference by week 1 (P _4-point decrease) were greater for 30 mg of nemolizumab versus placebo at week 16 (P <_ .001) and week 24 (P <_ .01). Nemolizumab was safe and well tolerated. The most common adverse events were nasopharyngitis and upper respiratory tract infection. Conclusions: Nemolizumab resulted in rapid and sustained improvements in cutaneous signs of inflammation and pruritus in patients with AD, with maximal efficacy observed at 30 mg. Nemolizumab had an acceptable safety profile. (J Allergy Clin Immunol 2020;145:173-82.