Than 160 hours of community service (MUSOM)Ģ014 - Alpha Omega Alpha Honor Medical Society (MUSOM)Ģ014 - Commendation Note, for functioning at the level of a first year resident during Internal Medicine and Pediatric third year clerkships (MUSOM)Ģ014 - Commendation Note, for scoring above 90th percentile on National Board Medical University of South Carolina, Charleston, SCĢ017 - Faculty Excellence Educator of the Block Award,Ģ017 - Third Place poster presentation at the South Carolina Academy of Dermatology and Dermatologic Surgery Annual MeetingĢ015 - Bertha and Luke Poland Award, for achieving the highest possible academic standing at Marshall University School of Medicine (MUSOM)Ģ015 - Community Service Recognition Award, for graduating with more Professional Medical Licensure and Certification:Ģ018 - American Society for Mohs Surgery – Fundamentals of Mohs Surgery CourseĢ018 - Chief Resident, Dermatology Residency, Transitional Year Residency Program, West Virginia University, Morgantown, WVĭermatology - Medical, Cosmetic and Dermatologic Surgery West Virginia Wesleyan College, Buckhannon, WV - Bachelor of Science, Biology, Summa Cum Laudeĭermatology Residency, Medical University of South Carolina, Charleston, SC Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation.Marshall University School of Medicine, Huntington, WV - Doctorate of Medicine The latest EDS nosology distinguishes 13 subtypes. Up to one quarter of the EDS patients show aortic aneurysmal disease. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. Many different heritable connective tissue disorders (HCTD) have been described over the past decades.
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