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These authors from Canada and USA explain that infantile haemangioma is the most common tumour of infancy, but its possible association with pre-eclampsia is poorly understood. Their aim was to determine the relationship between variants of pre-eclampsia and risk of infantile haemangioma. To do this, they carried out a retrospective cohort study of hospital data for all live births between 1989 and 2013 in Quebec, Canada. They identified 14,240 neonates with and 1,930,564 without haemangioma before discharge, and determined whether early- or late-onset pre-eclampsia was documented on the maternal chart.
Editorial note: Welcome to the Journal of Investigative Dermatology (JID) Snapshot Dx Quiz— In this monthly online-only quiz, the first question (“What is your diagnosis?”) relates to the clinical image above, while additional questions concern the findings reported in a JID article that provides new information about that disease entity.
Gender differences are observed in the activity of multiple immunological pathways, even in healthy individuals. Many autoimmune diseases, both systemic and organ-specific, are characterized by a greater prevalence in females than males. Liang and colleagues identified a female-biased molecular signature, involving immunological factors, in association with autoimmune disease susceptibility, and this signature was independent of age or sex hormone regulation but was regulated by the putative transcription factor VGLL3, which had strong female-biased expression.
Identification of homozygous or compound heterozygous mutations in the VPS33B gene in three patients with autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome spurred molecular characterization of the function of this mutant protein. Gruber and colleagues reported that this mutation causes defects in collagen homeostasis via disruption of the interaction of VPS33B/VIPAR with the GTPase Rab11a, resulting in abnormal lamellar body formation and trafficking of the collagen modifying enzyme LH3 in the epidermis.
Editorial note: Welcome to the Journal of Investigative Dermatology (JID) Cells to Surgery Quiz— In this monthly online-only quiz, the first question (“What is your diagnosis?”) relates to the clinical image above, while additional questions concern the findings reported in a JID article that provides new information about that disease entity.
Growing recognition of the complexity of interactions within cellular systems has fueled the development of mass cytometry. The precision of time-of-flight mass spectrometry combined with the labeling of specific ligands with mass tags enables detection and quantification of more than 40 markers at a single-cell resolution. The 135 available detection channels allow simultaneous study of additional characteristics of complex biological systems across millions of cells. Cutting-edge mass cytometry by time-of-flight (CyTOF) can profoundly affect our knowledge of cell population heterogeneity and hierarchy, cellular state, multiplexed signaling pathways, proteolysis products, and mRNA transcripts.
For as long as I can remember, I have been captivated by the idea of belonging to a dynamic team that explores a frontier relevant to humanity. Some of my earliest childhood memories were of being transfixed by NASA’s Apollo missions to the moon. Like many of my friends, I dreamed of becoming an astronaut. In the fourth grade, Michael Crichton’s Andromeda Strain shifted my imagination from far away space to the mysteries of our own bodies. In this best-selling medical science fiction thriller, an eclectic team of talented, curious scientists work together to save the world from a lethal, highly infectious pathogen from outer space.
Hyperthermia increases expression of the antiviral cellular factors APOBEC3A and APOBEC3G and induces G-to-A or C-to-T mutations in human papilloma virus cervical cell lines and genital warts. This unexpected effect of heat treatment correlated with regression of genital warts in a subset of patients, including at distant sites, suggesting that this effect may be mediated in part by antiviral as well as immunological mechanisms.
Merkel cell carcinoma is a rare skin cancer associated with Merkel cell polyomavirus in most cases. Prior studies associating Merkel cell carcinoma viral status with prognosis have inconsistent findings. Moshiri et al. used multimodal virus detection to determine that the 81% of patients with virus-positive Merkel cell carcinoma tumors had earlier stage disease and better outcomes relative to virus-negative cases.
We are surrounded by billions of microbes, and our immune system is substantially affected by the commensal bacteria on the surface of our body. Schwarz et al. describe the immune-suppressive effect of sodium butyrate, a bacterial metabolite that is categorized as one of the short-chain fatty acids, during skin inflammatory responses.
Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Recent observations have suggested that the reduced inorganic pyrophosphate/phosphate ratio is the cause of soft connective tissue mineralization in these disorders. PXE International, a patient advocacy organization, supports research in part by sponsoring biennial research symposia on these disorders; the latest meeting was held in September 2016 at Thomas Jefferson University, Philadelphia.
Mascarenhas et al. report that TRPV4 expression is upregulated in mast cells in response to the proteolytic cathelicidin fragment LL37 in a murine rosacea model and that TRPV4 loss of function attenuates mast cell degranulation. These findings render TRPV4 a translational-medical target in rosacea. However, signaling mechanisms causing increased expression of TRPV4 await elucidation. Moreover, we ask whether TRPV4-mediated Ca++-influx evokes mast cell degranulation.
Recent advances in targeted anticancer therapies have substantially improved the prognosis of several cancers. Such targeted therapies are not, however, free of side effects, and these side effects are clearly distinct from those induced by classical cytotoxic chemotherapies. This is likely so because targeted therapies are designed to interfere with specific oncogenic signaling pathways rather than to inhibit cell proliferation in general. In fact, interference with specific signaling pathways may lead to effects that mimic those associated with genetic disorders due to alterations in the corresponding signaling pathways.
Glucocorticoids (GC) are the primary steroids that regulate inflammation and have been exploited therapeutically in inflammatory skin diseases. Despite the broad-spectrum therapeutic use of GC the biochemical rationale for locally treating inflammatory skin conditions is poorly understood, as systemic GC production remains largely functional in these patients. GC synthesis has been well characterised in healthy skin but the pathological consequence has not been examined. Here we show de novo GC synthesis and GR expression is dysfunctional in both non-lesional and lesional psoriatic skin.
Tumor necrosis factor-like weak inducer of apoptosis (TWEAK) participates in various cellular effects by engaging its receptor of fibroblast growth factor inducible 14 (Fn14). Increased levels of soluble TWEAK are associated with systemic autoimmunity in patients with lupus erythematosus, rheumatoid arthritis or dermatomyositis. However, the role of TWEAK in bullous pemphigoid (BP) remains unknown. In this study, we found an elevated serum level of TWEAK and a positive correlation between serum TWEAK and anti-BP180 antibodies.
Cutaneous lupus erythematosus (CLE) is a photosensitive autoimmune disease characterized by a strong type-I-interferon (IFN) associated inflammation. Keratinocytes are known to determine the interface-dermatitis-pattern in CLE by production of proinflammatory cytokines in the lower epidermis. These cytokines drive a cytotoxic anti-epithelial immune response resulting in keratinocytic cell death and release of endogenous nucleic acids (eNA). We hypothesized that these eNA (RNA- and DNA-motifs) have the capacity to activate innate immune pathways in keratinocytes via pathogen-recognition-receptors (PRR).