The International Pachyonychia Congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10–11 May 2016, in Scottsdale, AZ, U.S.A., is reported here.
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop). To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management.
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The International Pachyonychia Congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10–11 May 2016, in Scottsdale, AZ, U.S.A., is reported here.
Cancer of unknown primary site is still a demanding condition as it is per definition metastatic, with heterogeneous biological behavior, and it is often resistant to therapy. Cancer of unknown primary site ac...
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Several side effects have been reported during treatment with vemurafenib, including multiple benign lesions and, less frequently, atypical melanocytic proliferations and second primary melanomas.
A 46-year-old man undergoing vemurafenib therapy for metastatic malignant melanoma was clinically and dermoscopically monitored using total-body mapping.
During BRAF inhibitor (BRAFi) treatment, the patient developed atypical melanocytic lesions and particularly secondary primary melanoma.
Secondary melanomas are usually diagnosed during the early disease stage, and no case of advanced melanomas is reported in the literature, mostly due to careful surveillance in BRAFi-treated patients.
Publication date: June 2017
Source:Data in Brief, Volume 12
Author(s): Hong-liang Zhang, Zhi-hong Liu, Qin Luo, Yong Wang, Zhi-hui Zhao, Chang-ming Xiong
This article contains the clinical characteristics of the paradoxical embolized patients and the following up results. Data included are related to the article "Paradoxical embolism: Experiences from a single center" (Zhang Hong-liang, Liu Zhi-hong, Luo Qin, Wang Yong, Zhao Zhi-hui, Xiong Chang-ming, in press) [1]. The data are obtained from the hospital records and telephone interview.
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