Nail patella syndrome is a autosomal dominant disorder caused by a genetic alteration in LMX1B. We identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. Impaired transcriptional activity but not dominant negative effect of mutant LMX1B were revealed using a transcriptional reporter assay, indicating that the mutation caused nail patella syndrome in this family via haploinsufficiency of the transcriptional activity of LMX1B.

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For the last several decades, there are numbers of research done to reveal the importance of gut microbiome regarding human health and disease. One of the typical inflammatory skin disease is atopic dermatitis. The role of gut microbiome is becoming known in atopic dermatitis and the bacteria to cause the disease and probiotics to prevent the disease is being researched. We analyzed the gut microbiota of the inflammatory skin model mouse named ICE (keratin 14-specific Interleukin-1 converting enzyme overexpressing transgenic mouse). ICE had an elevatedcolonization of Staphylococcus genus and Streptococcus genus compare to those of wild type. When the ICE was treated with anti TNF-a antibody, the percentage of these bacteria had significantly decreased (p ¼ 0.018, p ¼ 0.031, respectively). We are going to present in this poster about the differences of skin reaction and cytokine production by orally administrating of isolated bacteria into sterilized wild type mice and causing skin inflammation. Our skin is daily aggressed by environmental factors and by certain personal care products (cleansers, deodorants, etc).Our obsession with cleanliness may do more harm than good for the balance of our skin's microbiota and skin health. It has been observed that overcleanliness leads to an impairment of the skin barrier function and of skin microbiome balance leading to increased sensitivity, irritation and dryness. We explored the effect of a common surfactant found in hygiene products, on the physical skin and microbiotic barrier in vivo. At first, we applied SLS (Sodium Lauryl Sulfate, 0.5% occlusive patch for 24h) and we explored its effect on the skin microbiota using metagenomic sequencing (16S rDNA) before and 1 day after SLS application. Secondly, we explored skin microbiota and skin barrier function evolution over 7 days after a 1% SLS challenge in the presence of a formula containing purified rapeseed phytosterols and one containing its vehicle. Skin barrier function was assessed before, after SLS and 7 days after applying phytosterols and vehicle by measuring TEWL. Finally, skin microbiota recovery after a 0.5% SLS patch in presence of the same formula containing phytosterols was assessed at the same timepoint; (16S metasequencing). We confirmed that the surfactant impaired skin barrier function and evidenced that it decreased the commensal bacteria while increasing the opportunistic pathogenic bacteria. At the phylum level actinobacteria were decreased by 14% and at the family level, corynebacteriaceae, micrococcaceae and propionibacteriacea were decreased (-42%, -34%, -11%). At the genus level corynebacterium, micrococcus, paracoccus and propionibacterium were decreased (-42%, -39%, -36%, -11%), whereas pseudomonas and pantoea were increased (x2, x117). Interesting results were also obtained on staphylococcus (+38%), but a more resolutive technic is necessary to discriminate between strains. To counterbalance these SLS induced-modifications, we evidenced that purified phytosterols provide benefits to restore sk...

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2020. In association with these cutaneous findings the patient also reported recurrent headaches and a feeling of malaise.Patient 3 was a 10-year-old boy who visited our local Accident and Emergency department with spontaneous upper limb bruising (Fig. 1c). Again, like the other two patients, he detailed a history of relapsing-remitting cutaneous symptoms every 2-3 weeks, starting as erythematous macules, which then developed a bruise-like change. These findings resolved with gradual erythema.Screening for SARS-CoV-2 IgG antibodies, vasculitis and thrombophilia was negative in all three cases. Each child had a skin biopsy taken, which revealed features of red cell extravasation and mild dermal oedema. Patient 1 had scattered dermal eosinophils, and all had a mild perivascular inflammatory cell infiltrate composed of lymphocytes, histiocytes and neutrophils. There was no evidence of vasculitis and no history of patient-inflicted injury.Stress can manifest in a number of ways, including skin changes. We are increasingly seeing patients during the COVID-19 pandemic with unusual dermatoses that, following extensive exclusion of a number of organic causes, may point to a diagnosis of medically unexplained skin symptoms (dermatitis artefacta). Indeed, the scattered dermal eosinophils seen in one of our patients have been reported in burn-like injuries associated with dermatitis artefacta. 4 A similar presentation, Gardner-Diamond syndrome, has been proposed in young women. 5 Also known as psychogenic purpura, this rare condition is characterized by painful bruising on the extremities during times of stress. 5 Principally this is a diagnosis of exclusion and usually the cutaneous findings include tender ecchymoses.It remains unclear if COVID-19 infection or the stress of recent events due to the pandemic was the precipitant of the cutaneous findings in this cohort. As COVID-19 continues to spread worldwide, we highlight this unusual clinical entity presenting in our vulnerable paediatric/ adolescent population.

Purpose Topical calcineurin inhibitors (TCIs) are an important anti-inflammatory drug for treating atopic dermatitis (AD). However, those treatment responses are variable. In this study, we stratified AD patients by patterns of response to remission maintenance therapy (proactive therapy) with topical tacrolimus, a typical TCI. Thereafter, we explored patient features that predict the success or failure of proactive therapy using TCI (TCI proactive therapy). Methods A single-arm open-label clinical study aimed to evaluate the efficacy of TCI proactive therapy was conducted in 31 patients with AD. Patients were treated with TCS to induce remission (remission-induction period) followed by daily TCI ointment (0.1% tacrolimus) application for 4 weeks (maintenance therapy period), and twice-weekly application for 12 weeks (proactive therapy period). Based on its results, treatment outcomes were correlated with the patients’ clinical and laboratory findings. Results Of the 31 patients enrolled in the study, 21 successfully completed maintenance therapy (TCI responders). Among them, 13 completed (proactive-completed group) and 8 failed proactive therapy (proactive-dropout group). At the beginning of maintenance therapy, the serum IgE level was significantly higher in the TCI responders than in those who failed maintenance therapy ( p = 0.049). At the beginning of proactive therapy, the mean-SCORing Atopic Dermatitis (SCORAD) score was significantly different between the proactive-completed (11.7 ± 4.6) and proactive-dropout (16.6 ± 4.2) groups ( p = 0.025). In proactive-dropout group patients, worsened disease activity correlated well with the elevation of serum lactate dehydrogenase (LDH) and Thymus and activation-regulated chemokine (TARC) levels and peripheral eosinophil count. Conclusion AD patients were stratified into three different response patterns to TCI proactive therapy. Patients with less involvement of IgE in the pathogenesis and inadequate remission induction by TCS may not be expected to respond well to TCI proactive therapy. Key messages AD patients can be stratified into three types according to their pattern of responsiveness to TCI proactive therapy. The efficacy of TCI proactive therapy is lower in AD patients with lower serum IgE levels. TCI proactive therapy should be done after the achievement of adequate remission induction by TCS.