Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria.

Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder. Aims: This study aimed to identify the mutations of the ADAR1 gene in two Chinese families with DSH. Methods and Materials: Eight patients from two Chinese families were diagnosed with DSH clinically. Blood samples were collected from the patients and unaffected individuals. Sanger sequencing for all polymerase chain reaction products of the whole coding regions of the ADAR1 gene was performed to identify the mutations. Mutation Taster software was used to predict the impact of the variant on the resultant protein. Results: The c.3358-3359insT (p.L1053fs-1092X) mutation in exon 12 was found in affected members of the pedigree1. In pedigree2, the c.3820-3821insG (p.G1207fs-1213X) mutation in exon 15 was found. These two mutations were not found in 100 unrelated healthy people. In this study, both mutations were damaged by the Mutation Taster software. Conclusions: We identified two novel frameshift mutations in the ADAR1 gene. Our study expands the database of ADAR1 gene mutations in DSH.

The association between social support and depression among patients with vitiligo in China.

Vitiligo is a common depigmenting skin disease with profound psychosocial impacts. Depression is one of the most common mental distress. Social support has a significant impact on the psychological status of patients. The aim of this study is to investigate the depression and social support status of patients with vitiligo in China, and further explore the correlation between social support and depression. The outpatients with vitiligo were investigated face to face with SDS (Self-rating depression scale) and SSRS (Social support rate scale). The mean SDS score of the patients was 44.05 ± 6.76, which was significantly higher than Chinese norms (p = 0.000). Female patients, unmarried, disease at rapid progressive stage and skin lesions at the exposed site had higher SDS scores (all p < 0.05). The scores of total social support, subjective support, objective support and support availability were lower than Chinese norms (all p < 0.01), and all were negatively correlated with SDS scores (all p < 0.001). In conclusion, low social support is one of the risk factors for depression in patients with vitiligo in China. More support and acceptance should be given to the patients.

Evaluation of the Behavioral and Psychological Symptoms in Patients with Vitiligo in China.

Background: Vitiligo is a common, acquired depigmenting disorder. The pathogenesis is not clear, neuropsychological factors may be involved. Vitiligo will affect the individual's physical and psychological health, leading to different levels of psychological behavior problems. However, there are few research on psychological symptoms in patients with vitiligo in China. Methods: Adult patients with vitiligo were selected in convenient sampling method from March 2019 to November 2019 from the dermatology clinic. They were evaluated by the DLQI (Dermatology Life Quality Index), SCL-90 (Symptom Checklist-90), SADS (Social Avoidance and Distress Scale) and MCMQ (Medical Coping Modes Questionnaire). Results: The DLQI score was 7.56 ± 6.11, which was in the third level. The SCL-90 score of patients with vitiligo was 136.44 ± 39.19, significantly higher than the Chinese norms (P < 0.05), and it mainly manifested as interpersonal sensitivity, depression, anxiety and phobia, which may be affected by the patient's gender, marital status, severity of disease, stage and location of skin lesions. The total score of SADS in patients was 10.30 ± 6.38. The total score and scores in all dimensions of SADS were significantly higher than the Chinese norms (all P < 0.05), which were related with the patient's gender, educational attainment, severity, type and stage of skin lesions. For MCMQ, the facing score was significantly lower than the Chinese norms (P < 0.05), and the avoiding and yielding scores were significantly higher than the Chinese norms (all P < 0.05). Conclusion: In China, vitiligo affects the patient's quality of life to varying degrees, resulting in a series of psychological and behavioral problems. We should actively concern and improve the psychological health status and behavior of patients, and multidisciplinary treatment strategies and education about vitiligo should be given to the patients.

The photosensitizer-based therapies enhance the repairing of skin wounds.

Wound repair remains a clinical challenge and bacterial infection is a common complication that may significantly delay healing. Therefore, proper and effective wound management is essential. The photosensitizer-based therapies mainly stimulate the photosensitizer to generate reactive oxygen species through appropriate excitation source irradiation, thereby killing pathogenic microorganisms. Moreover, they initiate local immune responses by inducing the recruitment of immune cells as well as the production of proinflammatory cytokines. In addition, these therapies can stimulate the proliferation, migration and differentiation of skin resident cells, and improve the deposition of extracellular matrix; subsequently, they promote the re-epithelialization, angiogenesis, and tissue remodeling. Studies in multiple animal models and human skin wounds have proved that the superior sterilization property and biological effects of photosensitizer-based therapies during different stages of wound repair. In this review, we summarize the recent advances in photosensitizer-based therapies for enhancing tissue regeneration, and suggest more effective therapeutics for patients with skin wounds.

Increased Level of Serum Wingless-Type Mouse Mammary Tumor Virus Integration Site Family Member 5a in Patients with Cutaneous Lichen Planus.

PURPOSE: Cutaneous lichen planus (CLP) is an autoinflammatory skin disorder, and it is associated with metabolic syndrome. Wingless-type mouse mammary tumor virus integration site family member 5a (Wnt5a) is a potential factor in metabolic complications and it was shown to be upregulated in CLP lesions. Whether Wnt5a is altered in the circulation of patients with CLP is unclear. This study aimed to measure serum Wnt5a level in patients with CLP and to assess its relationship with body mass index (BMI). METHODS: We included 46 adult patients with CLP and 38 healthy adults as control. Serum Wnt5a was measured using enzyme-linked immunosorbent assay. RESULTS: The mean serum Wnt5a was significantly higher in patients than controls (all P-value <0.001). The mean serum Wnt5a levels in obese (BMI between 30 and 40) patients were significantly higher than lean (BMI between 20 and 25) patients (P-value <0.001). Compared to lean patients with CLP, the concentration of serum Wnt5a levels was increased gradually with BMI score (all P-value <0.05). CONCLUSION: Serum Wnt5a might be a potential biomarker for CLP and it was associated with BMI. An increase in serum Wnt5a may contribute to the development of metabolic comorbidity in CLP patients.

The Levels of Wnt5a and Its Receptors Frizzled5 and Frizzled2 as Immunohistochemical Biomarkers of Severity of Psoriasis.

PURPOSE: Psoriasis is a systemic, chronic and inflammatory condition. The exact pathogenesis is unclear. The abnormal expression of Wnt5a pathway in psoriasis vulgaris has been confirmed. Whether it is related to the severity of psoriasis is unclear. METHODS: Thirty-eight skin lesions from psoriasis vulgaris patients and 22 healthy adult skin tissues were taken. The semi-quantitative immunohistochemistry score of Wnt5a, Frizzled5 and Frizzled2 was evaluated under a microscope by two independent dermatologists. Psoriasis area and severity index (PASI) score system was used to evaluate the disease severity. RESULTS: The average PASI score of the patients was 16.25 ± 7.8, and the average duration of disease was 19.6 ± 10.4 months. Wnt5a, Frizzled5 and Frizzled2 were highly expressed in psoriasis lesions. The semi-quantitative immunohistochemistry scores of Wnt5a, Frizzled5 and Frizzled2 were positively correlated with PASI scores (r = 0.71, r = 0.46, r = 0.65, respectively, all P-value < 0.01), but not correlated with duration of disease (r = 0.11, r = 0.17, r = 0.29, respectively, all P-value > 0.05). There were significant positive correlations between Wnt5a and Frizzled5 (r = 0.57, P-value < 0.01), as well as Wnt5a and Frizzled2 (r = 0.59, P-value < 0.01). CONCLUSION: Wnt5a and its receptors play an important role in pathogenesis of psoriasis vulgaris and are positively correlated with the severity of psoriasis, and may be one of the immunohistochemical predictors of the severity of the disease.

A nodule on the forearm.

Glomus tumors are benign tumors of the skin. Clinically, these tumors can present as solid, painful subcutaneous nodules, frequently seen on the hand (particularly subungual region). Glomangiomyomas are the least common histological type of glomus tumor. In the literature, there are only a few glomangiomyoma cases of the forearm location. We report a patient with a painful nodule, diagnosed as glomangiomyoma. Surgical excision was performed and no recurrence was observed after 5 years' follow-up.