Desmosomes are intercellular adhesive junctions of epithelial cells that contain two major transmembrane components, desmogleins (Dsg) and desmocollins (Dsc), which are anchored to intermediate filaments of keratin through interactions with plakoglobin and desmoplakin.Desmosomes play an important role in maintaining the proper structure and barrier function of the epidermis.Dsg and Dsc are both cadherin-type cell-cell adhesion molecules found in desmosomes.Dsg has four isoforms: Dsg1-Dsg4.Dsg1 and Dsg3 are the two major Dsg isoforms in the skin and mucous membranes.In the skin, Dsg1 is expressed throughout the epidermis, but more intensely in the superficial layers, while Dsg3 is expressed in the lower portion of the epidermis, primarily in the basal and parabasal layers.Dsg1 and Dsg3 compensate for each other to hold cells together, when the cells
Abstract Aleukaemic leukaemia cutis is a rare condition characterized by infiltration of leukaemic cells into the skin before they appear in the peripheral blood. We report a case of an aleukaemic leukaemia cutis, which had a history of exposure to atomic bomb radiation. A 57‐year‐old Japanese woman initially presented with a 20‐week history of multiple red papules and plaques mainly over the trunk. Histological examination revealed the infiltration of atypical monocytic cells in the dermis, but no leukaemic cells were detected in the peripheral blood. Twenty‐three weeks after the appearance of the eruption, leukaemic cells were detected in the peripheral blood for the first time. The results of immunohistochemistry of the skin biopsy specimen and flow cytometry of the peripheral blood indicated the rare phenotype of myeloid/NK cell precursor acute leukaemia. This is the first case report of myeloid/NK cell precursor acute leukaemia presenting as aleukaemic leukaemia cutis in the English literature, and awareness of this clinical presentation may be important to reach the correct diagnosis.
Abstract The diagnosis of trichotillomania ( TT ) is often difficult as it presents similar clinical manifestations with other hair loss diseases, especially alopecia areata ( AA ). As TT often coexists with AA , the methodology enabling reliable detection of TT in AA needs to be developed. Recently, characteristic dermoscopic findings of TT have been reported, yet, they were most clearly detectable by conventional immersion dermoscopy, not by dry dermoscopy, a technique more easily adoptable in daily practice. In addition, the usefulness of those signs for differentiating TT from AA has not been sufficiently assessed. Through intensive scanning of hair loss lesions by dry dermoscopy in AA patients with TT , we found a sign potentially useful for detecting hidden TT . The sign we named “follicular microhemorrhage” ( FMH ) represents a red dot corresponding to a follicular ostia capped or stuffed with blood clot and suggests a history of traumatic forced plucking. So far, we have detected FMH in four TT patients with moderate to severe AA . Although further accumulation of cases is necessary, FMH would be beneficial to dissect complicated pathophysiology of hair loss in AA patients with TT .
Additional file 3: Table S1. DEGs in heatmap (NT). Related to Fig. 5C. Table S2. DEGs in heatmap (HPF). Related to Fig. 5D. Table S3. Profiles of GSEA. Table S4. Gene ontology terms (down in NT). List of GO terms negatively enriched in SBMA-MNs of NT (FDR 2-fold) expression levels in SBMA-MNs than in control-MNs. Table S9. Primer sequences and cycling conditions for quantitative RT-PCR. Table S10. Antibodies for immunocytochemistry.
Atopic dermatitis is one of the most prevalent chronic skin diseases. Topical therapies continue to be the mainstay of treatment but are limited by noncompliance and side-effects from inappropriate or long-term use. Systemic therapies including cyclosporine and dupilumab have been the treatments of choice for refractory cases. However, outcomes may remain less than satisfactory, and cyclosporine use is further limited by nephrotoxicity.Upadacitinib, an oral Janus kinase inhibitor, is widely used for treating rheumatoid arthritis, psoriatic arthritis, and ankylosing spondylitis and has recently received approval for atopic dermatitis in the United States, Europe, Japan, and other countries. These approvals were based on results from several randomized controlled trials in which upadacitinib demonstrated better and faster response versus placebo or dupilumab.Therapies for atopic dermatitis are reviewed, with emphasis on drug profile, efficacy, and safety profile of upadacitinib for atopic dermatitis. In the review of the clinical trials, special focus is placed on efficacy in the Japanese population.Currently, there are several treatment options for atopic dermatitis refractory to topical therapies. However, appropriate utilization of Janus kinase inhibitors in clinical practice remains challenging, especially with regard to proper case selection, optimal timing, and appropriateness of use.
