International journal of dermatology and venereology最新文献

{"title":"Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy.","authors":"Bahar Dasgeb,&nbsp;Youssefian Leila,&nbsp;Amir Hossein Saeidian,&nbsp;Jun Kang,&nbsp;Wenyin Shi,&nbsp;Elizabeth Shoenberg,&nbsp;Adam Ertel,&nbsp;Paolo Fortina,&nbsp;Hassan Vahidnezhad,&nbsp;Jouni Uitto","doi":"10.1097/JD9.0000000000000170","DOIUrl":"https://doi.org/10.1097/JD9.0000000000000170","url":null,"abstract":"<p><strong>Objective: </strong>Well-defined germ-line mutations in the <i>PTCH1</i> gene are associated with syndromic multiple basal cell carcinomas (BCCs). Here, we used whole exome sequencing (WES) to identify the role of patched-1 in patients with multiple, unusually large BCCs.</p><p><strong>Methods: </strong>A 72-year old patient presenting with numerous BCCs progressing to large ulcerating lesions was enrolled. WES was used to identify the pathogenic gene locus.</p><p><strong>Results: </strong>Genetic work-up by WES identified a homozygous <i>PTCH1</i> nonsense mutation in the tumor tissue but not present in her blood cells or in non-lesional skin. In addition, heterozygous missense mutations were identified in three cancer-associated genes (<i>EPHB2, RET</i>, and <i>GALNT12</i>) in blood cells as well as in lesional and non-lesional skin. We also tested systemic immune therapy as a potentially beneficial approach to treat patients with numerous large BCCs on scatted areas of involvement. A rapid and sustained response to nivolumab was noted, suggesting that it is an efficacious drug for long-term therapeutic outcome.</p><p><strong>Conclusion: </strong><i>PTCH1</i>, <i>EPHB2, RET</i>, and <i>GALNT12</i> may potentially contribute to the synergistic oncogene driven malignant transformation manifesting as multiple, unusually large BCCs.</p>","PeriodicalId":73440,"journal":{"name":"International journal of dermatology and venereology","volume":"4 2","pages":"70-75"},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f9/80/ijdv-4-070.PMC8265835.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9784613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder.","authors":"Douglas Ralph,&nbsp;Rina Allawh,&nbsp;Ian F Terry,&nbsp;Sharon F Terry,&nbsp;Jouni Uitto,&nbsp;Qiaoli Li","doi":"10.1097/jd9.0000000000000126","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000126","url":null,"abstract":"<p><p>Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the <i>ABCC6</i> gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and cardiovascular system, kidney stones were reported in some individuals with PXE. The aim of this study is to determine whether kidney stones are an incidental finding or a frequent manifestation of PXE. We investigated the genetic basis of two siblings diagnosed with PXE. The younger patient presented with recurrent kidney stones since age 8. To address whether kidney stones are associated with PXE, the prevalence of kidney stones in a survey cohort of 563 respondents with PXE was compared to that of a general U.S. population survey, NHANES (National Health and Nutrition Examination Survey), with 28,629 participants. Genetic analysis in both patients identified compound heterozygous mutations in <i>ABCC6</i>, c.2787+1G>T and c.3774_3775insC. The analysis of participants aged 20 and older revealed that 23.4% of PXE patients had previously had a kidney stone, a significant increase compared to 9.2% in the general population. In addition, 17.8% of PXE patients reported their first kidney stone episode before age 18. PXE correlates with an increased risk of developing kidney stones with considerable morbidity and health-care cost.</p>","PeriodicalId":73440,"journal":{"name":"International journal of dermatology and venereology","volume":"3 4","pages":"198-204"},"PeriodicalIF":0.0,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8680818/pdf/nihms-1745159.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39601162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atherogenic Diet Accelerates Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum.","authors":"Jing-Yi Zhao,&nbsp;Joshua Kingman,&nbsp;Ida Joely Jacobs,&nbsp;Jouni Uitto,&nbsp;Yi Cao,&nbsp;Qiao-Li Li","doi":"10.1097/JD9.0000000000000086","DOIUrl":"https://doi.org/10.1097/JD9.0000000000000086","url":null,"abstract":"<p><strong>Objective: </strong>Pseudoxanthoma elasticum (PXE) is a multisystem heritable disorder caused by mutations in the <i>Abcc6</i> gene. The disease is characterized by ectopic mineralization of the skin, eyes, and arterial blood vessels. Previous studies have suggested that cardiovascular complications in patients with PXE are caused in part by premature atherosclerosis. The aim of this study is to determine the effect of an atherogenic diet on ectopic mineralization.</p><p><strong>Methods: </strong>We used <i>Abcc6</i> ^{<i>tm1JfK</i>} mice (<i>Abcc6</i> ^<i>-/-</i> mice) as an established preclinical model of PXE. The offspring at age of 4 weeks were divided into two groups and fed the standard control laboratory diet (control group) and the atherogenic diet. Serum lipid profiles and bile acids were measured, and steatosis and tissue mineralization were evaluated by histopathologic analysis and chemical calcium quantification assay, respectively.</p><p><strong>Results: </strong>After 50-58 weeks of feeding an atherogenic diet, the concentrations of total cholesterol, low-density lipoprotein/very-low-density lipoprotein cholesterol, and bile acids were significantly higher in the <i>Abcc6</i> ^<i>-/-</i> mice on the atherogenic diet (180.9 ± 14.8 g/L, 145.9 ± 12.9 g/L, and 9.7 ± 1.4 μmol/L, respectively) than in <i>Abcc6</i> ^<i>-/-</i> mice on a control diet (85.2 ± 4.8 g/L, 25.1 ± 5.5 g/L, and 3.3 ± 0.5 μmol/L, respectively) (<i>P</i> < 0.001). Hypercholesterolemia was accompanied by extensive lipid accumulation in the liver and aorta, a characteristic feature of steatosis. The direct calcium assay demonstrated significantly increased mineralization of the muzzle skin containing the dermal sheath of vibrissae (57.2 ± 4.4 μmol Ca/gram tissue on the atherogenic diet and 43.9 ± 2.2 μmol Ca/gram tissue on control diet; <i>P</i> < 0.01), a reproducible biomarker of the ectopic mineralization process in these mice. An increased frequency of mineralization was also observed in the kidneys and eyes of mice on the atherogenic diet (<i>P</i> < 0.01).</p><p><strong>Conclusion: </strong>These observations suggest that the atherogenic diet caused hypercholesterolemia and accelerated ectopic mineralization in the <i>Abcc6</i> ^<i>-/-</i> mice. Our findings have clinical implications for patients with PXE, a currently intractable disorder with considerable morbidity and occasional mortality.</p>","PeriodicalId":73440,"journal":{"name":"International journal of dermatology and venereology","volume":"3 2","pages":"91-96"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/JD9.0000000000000086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38374038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eruptive Cutaneous Collagenoma: Report of Two Cases","authors":"Jian Wu, Meihong Cai, Lingling Chen, Lei Wu, Xiaojian Chen, Hong-Yan Zhu, Feng Shi","doi":"10.1097/JD9.0000000000000103","DOIUrl":"https://doi.org/10.1097/JD9.0000000000000103","url":null,"abstract":"Abstract Introduction: Eruptive cutaneous collagenoma is non familial connective tissue nevi of unknown etiology presented with an abrupt onset. To date, the literatures on eruptive cutaneous collagenoma are extremely rare in china. Here, we report two women with eruptive cutaneous collagenoma. Case present: Two women presented with multiple asymptomatic, skin-colored papules and nodules on the trunk and extremities with no systemic involvement. Histopathology revealed dense, coarse collagen fibers by hematoxylin-esoin stain and decreased, fragmented elastic fibers by Elastic stain compared with the normal skin. Basing on these findings, the diagnosis of eruptive cutaneous collagenoma was made. No specific treatment was given. Discussion: Eruptive cutaneous collagenoma is a very rare dermatosis that is often misdiagnosed as other connective tissue nevi. The pathogenesis is unclear, and also no efficient treatment is available. It is usually diagnosed based on clinical and histopathological findings. Conclusion: The present cases are relatively rare type of eruptive cutaneous collagenoma that provide more experience for clinician, and may be helpful for them to make correct diagnosis for suspicious cases.","PeriodicalId":73440,"journal":{"name":"International journal of dermatology and venereology","volume":"12 3","pages":"128 - 130"},"PeriodicalIF":0.0,"publicationDate":"2020-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141205081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complete Draft Genome Sequence of Cutibacterium (Propionibacterium) acnes Type Strain ATCC6919","authors":"H. Tang, Kaiwei Si, Xiao Zhang, Heling Zhu, Wenliang Zheng, Xibao Zhang, Jingyao Liang, J. Ruan","doi":"10.1097/JD9.0000000000000096","DOIUrl":"https://doi.org/10.1097/JD9.0000000000000096","url":null,"abstract":"Objectives: The wide use of antibiotics for acne is the main cause of drug-resistantCutibacterium acnes. However, the complete genetic sequence reference of C. acnes has not yet been reported. Herein, we report the complete genetic sequence of Cutibacterium acnes type strain ATCC6919. Methods: Whole-genome sequencing of Cutibacterium acnes ATCC6919 was performed using both the Illumina Hiseq4000 and PacBio RSII single-molecule real-time sequencing platforms. The generated sequence reads were de novo assembled using the HGAP3 protocol of single-molecule real-time analysis v.2.3.0 software. The draft genome was annotated and further analyzed by various bioinformatics tools. Results: The total genome length of Cutibacterium acnes ATCC6919 was 2,495,001bp (60.02% G + C content), with 2,450 coding sequences including 2,358 proteins, 45 tRNAs, 9 rRNAs, and 1 sRNA. The Comprehensive Antibiotic Resistance Database showed that the gene (thy A) found in ATCC6919 was associated with resistance to aminosalicylic acid. Antimicrobial susceptibility testing showed that this isolate was not sensitive to metronidazole and sulfamethoxazole, but was sensitive to all other tested antimicrobials (erythromycin, azithromycin, clarithromycin, tetracycline, minocycline, trimethoprim, levofloxacin, ceftriaxone, and doxycycline). Conclusion: This study reports the complete genome sequence of Cutibacterium acnes ATCC6919, which provides a valuable reference for comparative analysis based on the genomic characteristics and resistance gene diversity of Cutibacterium acnes.","PeriodicalId":73440,"journal":{"name":"International journal of dermatology and venereology","volume":"119 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141205360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevention and Treatment of Skin Damage Caused by Personal Protective Equipment: Experience of the First-Line Clinicians Treating 2019-nCoV Infection.","authors":"Nuo-Ya Zhou, Liu Yang, Li-Yun Dong, Yan Li, Xiang-Jie An, Jing Yang, Liu Yang, Chang-Zheng Huang, Juan Tao","doi":"10.1097/JD9.0000000000000085","DOIUrl":"10.1097/JD9.0000000000000085","url":null,"abstract":"","PeriodicalId":73440,"journal":{"name":"International journal of dermatology and venereology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7147274/pdf/ijdv-publish-ahead-of-print-10.1097.jd9.0000000000000085.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39056143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Consensus on Pre-examination and Triage in Clinic of Dermatology During Outbreak of COVID-19 From Chinese Experts<sup />.","authors":"Hui Zhang, Hai Long, Lin Ma, Gang Wang, Qi-Ri Mu, Yu-Ping Ran, Quan-Zhong Liu, Sheng-Xiang Xiao, Xue-Jun Zhang, Jian-Zhong Zhang, Fu-Ren Zhang, Li He, Ai-Jun Chen, Xiang Chen, Jie Zheng, Rong-Ya Yang, Zhi-Rong Yao, Ping Tu, Yu-Zhen Li, Xing-Hua Gao, Jin-Hua Xu, Heng Gu, Bo Cheng, Wei Lai, Qian-Jin Lu","doi":"10.1097/JD9.0000000000000084","DOIUrl":"10.1097/JD9.0000000000000084","url":null,"abstract":"<p><p>The 2019 novel coronavirus infection has brought a great challenge in prevention and control of the national epidemic of coronavirus disease 2019 (COVID-19) in China. During the fight against the epidemic of COVID-19, properly carrying out pre-examination and triage for patients with skin lesions and fever has been a practical problem encountered in hospitals for skin diseases as well as clinics of dermatology in general hospitals. Considering that certain skin diseases may have symptom of fever, and some of the carriers of 2019 novel coronavirus and patients with COVID-19 at their early stage may do not present any symptoms of COVID-19, to properly deal with the visitors to clinics of dermatology, the Chinese Society of Dermatology organized experts to formulate the principles and procedures for pre-examination and triage of visitors to clinics of dermatology during the epidemic of COVID-19.</p>","PeriodicalId":73440,"journal":{"name":"International journal of dermatology and venereology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153734/pdf/ijdv-publish-ahead-of-print-10.1097.jd9.0000000000000084.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39056144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}