Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.

BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. CONCLUSIONS Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.

A real-world study of dupilumab in patients with atopic dermatitis including patients with malignancy and other medical comorbidities.

Background: Dupilumab is a monoclonal antibody approved for the treatment of moderate-to-severe atopic dermatitis (MtS-AD). Various clinical trials have established the effectiveness and safety of dupilumab for the treatment MtS-AD; however, the real-world experiences of patients treated with dupilumab with malignancy and other comorbidities are lacking. Objective: To assess the real-life effectiveness and safety of dupilumab in the treatment of MtS-AD within Canadian adult patient population, including those with other significant comorbidities such as malignancy. Methods: In this retrospective study, records of adult patients diagnosed with MtS-AD, with a Physician Global Assessment (PGA) score of 3 or 4, and treated with dupilumab for 52 weeks were reviewed and collected. Results: A total of 155 adult patients with atopic dermatitis (AD) treated with dupilumab were included in the study. Asthma was the most common comorbidity. One hundred twenty-three (80%) patients received either phototherapy and/or at least 1 systemic agent (methotrexate and cyclosporine) before initiation of dupilumab. PGA score of 0 or 1 was achieved by 64% of patients at week 52. Adverse effects including injection site reactions, ocular surface disease, facial and neck redness, and arthropathy occurred in 6%, 10%, 8%, and 6% of patients, respectively. Three patients continued receiving dupilumab throughout pregnancy, all maintaining PGA score of 0 or 1 with no impact on pregnancy, delivery, or the newborn. Twelve patients with prior or active malignancy were included, with no reported negative impact on malignancy. Conclusion: Dupilumab is an effective and safe option for patients with AD in real life, including patients with malignancy and other medical comorbidities.

Comparison of the efficacy of biologics versus conventional systemic therapies in the treatment of psoriasis at a comprehensive psoriasis care center.

BACKGROUND: The efficacy of biologic treatment for psoriasis has not been compared to that of conventional systemic therapies and phototherapy outside of clinical trial settings. DESIGN: Retrospective, cross-sectional. METHODS: All patient visits with a code for psoriasis (ICD-9 696.1) in the clinical practice of two dermatologists with a high percentage (over 70% of chief complaints) of psoriasis patients from Jan 1, 2008 to Jan 4, 2012 inclusive were included in this retrospective data analysis. Patients were excluded if the baseline Physician's Global Assessment (PGA) at start of treatment was unknown, or less than 3 (moderate). The practice is a comprehensive psoriasis care center in the Northeastern United States serving a metropolitan population of over 4 million people. Patients were divided by treatment type (biologic, conventional systemic or both) and history of previous treatments. Patients were evaluated by Body Surface Area (BSA), PGA, Simple-Measure for Assessing Psoriasis Activity (S-MAPA, calculated by BSA multiplied by PGA). Patients were evaluated at baseline, 8, 12, 16, and 24 weeks after start of treatment. Patients must have completed at least 8 weeks on a single treatment in order to be included. RESULTS: 46 courses of biologics, 12 courses of conventional systemic therapies, and 18 courses of both together were identified with PGA 3 or greater at baseline. Baseline S-MAPA for biologics was 74, for non-biologic systemics was 62.25. At week 24, S-MAPA improved 70.2% over baseline in patients treated with biologics, patients treated with non-biologic systemics improved by only 40.4% (P<0.05). The average number of prior treatments for patients on biologics was 1.87 versus 1.25 for patients on conventional systemic therapies (P=0.169). CONCLUSION: Biologics show superior results to conventional systemic therapies (70% improvement versus 40% improvement) for the treatment of patients with moderate to severe psoriasis, as measured by decrease in S-MAPA (PGA multiplied by BSA) at week 24. These results were observed despite the fact that patients on biologics had a greater baseline severity and had a greater number of previous treatments.