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Full-Text Articles in Skin and Connective Tissue Diseases
From Clinical Phenotype To Genotypic Modelling: Incidence And Prevalence Of Recessive Dystrophic Epidermolysis Bullosa (Rdeb), Shaundra Eichstadt, Jean Y. Tang, Daniel C. Solis, M. Peter Marinkovich, Nedra Whitehead, Fang Fang, Stephen W. Erickson, Mary E. Ritchey, Max Colao, Kaye Spratt, Amir Shaygan, Mark Ahn, Kavita Y. Sarin
From Clinical Phenotype To Genotypic Modelling: Incidence And Prevalence Of Recessive Dystrophic Epidermolysis Bullosa (Rdeb), Shaundra Eichstadt, Jean Y. Tang, Daniel C. Solis, M. Peter Marinkovich, Nedra Whitehead, Fang Fang, Stephen W. Erickson, Mary E. Ritchey, Max Colao, Kaye Spratt, Amir Shaygan, Mark Ahn, Kavita Y. Sarin
Engineering and Technology Management Faculty Publications and Presentations
Background: Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited genetic disorder characterized by recurrent and chronic open wounds with significant morbidity, impaired quality of life, and early mortality. RDEB patients demonstrate reduction or structural alteration type VII collagen (C7) owing to mutations in the gene COL7A1, the main component of anchoring fibrils (AF) necessary to maintain epidermal-dermal cohesion. While over 700 alterations in COL7A1 have been reported to cause dystrophic epidermolysis bullosa (DEB), which may be inherited in an autosomal dominant (DDEB) or autosomal recessive pattern (RDEB), the incidence and prevalence of RDEB is not well defined. To date, the …
Ecthyma Gangrenosum In An Immunocompromised Patient Without Detectable Bacteremia, Jonathan Miles, Alex Mari, Matthew Crabtree, Vinod Nambudiri, Jilian Sansbury
Ecthyma Gangrenosum In An Immunocompromised Patient Without Detectable Bacteremia, Jonathan Miles, Alex Mari, Matthew Crabtree, Vinod Nambudiri, Jilian Sansbury
Dermatology
Ecthyma gangrenosum (EG) is typically pathognomonic of Pseudomonas aeruginosa bacteremia among immunocompromised patients, particularly with underlying malignancy. Recently, other pathogens and clinical histories have been implicated, challenging the classic picture of patients with EG. The cutaneous findings in patients follow a pattern of lesion progression from indurated pustules and hemorrhagic vesicles evolving to necrotic ulcers with central black eschar and surrounding erythema. While lesions typically occur on the perineum or lower extremities, their presence has also been described elsewhere. Herein, we describe a case of an immunocompromised man with chronic lymphocytic leukemia and multiple myeloma actively undergoing chemotherapy presenting with …