Journal of Investigative Dermatology. Symposium Proceedings

Systemic lupus erythematosus (SLE) is a chronic heterogeneous autoimmune disease characterized by loss of tolerance to self-antigens, complement activation, dysregulated type 1 IFN responses, and immune-mediated tissue damage. The clinical features of SLE are pleomorphic, affecting virtually any organ system, such as skin, joints, central nervous system, or kidneys. Currently, the etiology and pathogenesis of SLE are not fully understood. Generally, it is considered that genetic factors, immune abnormalities, sex hormones, and environmental factors are associated with SLE, and mainly caused by genetic and environmental interactions, typical for a complex disease with multiple susceptibility genes...

Atopic dermatitis is a common cutaneous disorder characterized by severe itch, chronic inflammation, and increased nerve fiber density. It has been assumed that the neural changes are in response to ongoing inflammation. We used in vivo imaging over time of fluorescently labeled peripheral sensory nerves during epicutaneous sensitization to ovalbumin in an allergic mouse model of atopic dermatitis. Visualization of cutaneous nerve branches and blood vessels sequentially over months revealed that peripheral sensory nerves begin to pathfind within 48 hours of antigen exposure...

CD147, also named as BSG, was first identified from F9 embryonal carcinoma cells (Miyauchi et al., 1990) and the human BSG locus on chromosome 19p13.3 containing 10 exons (Belton et al., 2008; Kaname et al., 1993; Liao et al., 2011), which encodes four alternatively spliced transcripts:CD147/Bsg-1,2,3,4 (Kaname et al., 1993; Liao et al., 2011). Bsg-1 has three Ig-like domains (CD147/Bsg-1) (Hanna et al., 2003; Ochrietor et al., 2003), while CD147/Bsg-3,4 contains a single Ig-like domain (Belton et al...

Malignant melanoma is the most aggressive and lethal form of skin cancer with an increasing incidence worldwide. In the past 5 years, the Food and Drug Administration has approved six targeted therapies or immunotherapies for the treatment of metastatic melanoma (Chapman et al., 2011; Falchook et al., 2012; Hauschild et al., 2012; Hodi et al., 2010; Ribas et al., 2015; Topalian et al., 2014). For the first time, interventions improve survival of this deadly disease. However, rapid resistance to BRAF/MEK inhibitors and lower rates of objective response or immune-related side effects for anti-CTLA-4 or anti-PD-1 monoclonal antibodies limited their widespread clinical applications...

Hedgehog (HH) signaling plays an important role both during embryonic development and adult life. It is involved in the regulation of cell differentiation, cell proliferation and tissue polarity, as well as in the maintenance of stem cells, tissue repair, and regeneration (Briscoe and Therond, 2013; Jiang and Hui, 2008). Three ligands, Indian, Sonic, and Desert HH, can activate this pathway. Binding of HH ligands to their receptor, PTCH1 (Figure 1) lift its inhibition on SMO, resulting in activation and nuclear translocation of GLI transcription factors (Javelaud et al...

In recent years, the treatment of advanced melanoma has been revolutionized by the introduction of new innovative approaches, namely mutation-based targeted therapy and immune checkpoint blockade by CTLA4 and PD-1/PD-L1 inhibitors. The decade-long era of chemotherapy with very low response rates of 5-20% and short median survival rates of 6-9 months has been left in favor of new therapies with response rates ranging between 40% and 70% and median overall survival rates of 2 years and longer (Heppt et al., 2015, Larkin et al...

Psoriasis is a common skin disease affecting 1-3% of the population (Gelfand et al., 2005; Ferrándiz et al., 2001). Approximately 30% of patients with psoriasis develop psoriatic arthritis (PsA), an inflammatory arthritis associated with psoriasis (Haroon et al., 2013; Prey et al., 2010). Generalized pustular psoriasis (GPP) affects about 1.3% of psoriasis patients. Recently, numerous novel susceptibility loci for psoriasis vulgaris (PsV) have been discovered thorough the application of genome-wide association studies (GWASs)...

Psoriasis is a chronic and recurrent inflammatory skin disease that is characterized by abnormal keratinocyte proliferation, vascular hyperplasia, and infiltration of inflammatory cells into the dermis and epidermis. It is generally accepted that the central pathogenesis of psoriasis is dysfunction of T lymphocytes, which are affected by the complex interplay between genetic and environmental factors, including trauma, infections, stress, drugs, smoking, and alcohol consumption (Nestle et al., 2009). The environmentally induced epigenetic changes, including DNA methylation, histone modification, and microRNAs, have been shown to be involved in the pathogenesis of this disease (Zhang et al...

Major histocompatibility complex (MHC), also known as human leukocyte antigen (HLA) in humans, is one of the most genetically diverse regions in the genome of various species. The human MHC contains about 400 genes in a ∼7.6-Mb span located on the short arm of the chromosomal region 6p21.3. According to the NHGRI-EBI Catalog of published genome-wide association studies (https://www.ebi.ac.uk/gwas/) in HLA region, more than 500 associations have been identified for about 200 traits or phenotypes, including primary immune deficiencies, autoimmune diseases, susceptibility to infections, malignancies, and psychiatric conditions (Welter et al...

Psoriasis is a complex immune-mediated disease of skin and joints with a prevalence of about 2%. Previous genetic association studies have identified more than 60 psoriasis susceptibility loci, 47 of which were identified in Caucasians. To further understand the genetic architecture of this disease, we conducted the largest meta-analysis of genome-wide association studies (GWAS) for psoriasis to date, including data from eight different Caucasian cohorts (seven GWAS and one Immunochip dataset), with a combined effective sample size of more than 39,000 individuals...

The 2016 JID Beijing Workshop, held in the context of the 5th National Congress of Investigative Dermatology of the Chinese Society of Dermatology, had the thematic focus on "Precision Medicine in Dermatology." This theme was extremely timely, yet forward-looking, due to the fact that precision medicine is one of the fastest growing paradigms of contemporary medicine (Box 1).

Telemedicine, as defined by the World Health Organization, is the use of communication technologies in healthcare for the exchange of medical information for diagnosis, treatment, prevention, research, evaluation, and education over a distance (World Health Organization, 1998). Since the 1990s, with the rapid development of modern communication technology, telemedicine, which can be used by almost all medical specialties, has likely entered its "golden age," However, some of the more visual medical specialties may be more suitable, such as teleradiology, telepathology, and teledermatology...

With the world's largest population at 1.3 billion and a rising number of foreigners, China requires physicians and a healthcare system that meets the needs of a large and diverse population. Along with rapid economic and technological advancements, the Medical Administration Division of the National Health and Family Planning Commission remarked that medical services through online appointments and payments have improved its efficacy over the past 2 years. According to the official report from the National Health and Family Planning Commission of the People's Republic of China website, China has so far established a total of 25,000 hospitals and 981,000 community health centers, that includes 17,100 dermatologists and 190,000 residents in training...

On May 23-25, 2016, investigators from the United States, Europe and China came together for a meeting on "Precision Medicine in Dermatology" at the Beijing Landmark Hotel. This meeting brought together investigators in cutaneous biology from the United States, Europe, and China in a forum to exchange scientific ideas and foster new collaborations. The meeting was hosted and organized by Heng Gu, Yong Cui, and Xuejun Zhang. John Seykora, with valuable assistance from Barbara Gilchrest and Elizabeth Blalock, organized the European and American speakers...

Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is an autosomal recessive disease characterized by deposition of calcium hydroxyapatite in the skin, eyes, and cardiovascular system, with protean manifestations (Li et al., 2016; Li and Uitto, 2013; Neldner, 1988). The classic form of PXE is late-onset and slow-progressing, and the major clinical problems relate to loss of vision and development of cardiovascular complications (Neldner, 1988). The classic form of PXE is caused by loss-of-function mutations in the ABCC6 gene encoding ATP-binding cassette subfamily C, member 6 (ABCC6), a putative transmembrane efflux transporter protein expressed primarily in the liver and kidneys...

Cutaneous squamous cell carcinoma (cSCC) is the second most common cancer in humans, with an incidence of approximately 700,000 cases per year in the United States (Rogers et al., 2010). It is known that cSCC is strongly associated with sun exposure, specifically UVB and UVA, as well as other risk factors, such as human papillomavirus infection, immunodeficiency, and specific medications (Ratushny et al., 2012). However, the precise sequence of biological events leading to tumor development remains unknown...

Skin is the human body's largest organ and the first to contact various environments. There are considerable variations of normal skin characteristics within and between populations. For example, skin containing more melanin looks darker, people with reduced axial sweating tend to have less body odor, and skin with higher lipid and water content has an improved barrier. For decades, dermatologists have been developing new methods to measure differences in normal skin characteristics. However, most of these studies were carried out at the clinical level...

In the absence of an approved treatment by the US Food and Drug Administration, choosing one of the many off-label treatments available for a child, teen, or adult with alopecia areata (AA) can be challenging. The physician or midlevel provider treating a patient with AA needs to take into consideration the age of the patient, location of hair loss, disease extent and activity, and any ongoing medical or psychological issues. Many patients and their families have now also heard the "buzz" about evolving research, particularly with JAK inhibitors, for the treatment of AA...

Alopecia areata is a T-cell-mediated disease that shares phenotypic similarities with other inflammatory diseases, particularly atopic dermatitis, and lacks safe, effective, mechanism-specific treatments. Increasing data suggests that alopecia areata harbors contributions of T helper type 1, T helper type 2, T helper type 17/IL-23, and phosphodiesterase pathways. Antagonism of these axes is undergoing evaluation, and might elucidate the underlying molecular circuitry of alopecia areata, advancing the translational revolution for this disease...

Autoimmune diseases create a substantial burden of disease, and alopecia areata is among the more prevalent forms. Comorbidities are medical conditions that tend to occur together and may provide etiologic insights, suggest novel therapeutic strategies, and help patients and family members understand the risk of other health conditions. It is well established that having one autoimmune disease increases risk for others because of an underlying shared biology. Precision medicine initiatives are creating vast amounts of data that allow us to efficiently identify comorbidities...