نتایج جستجو برای: dystrophic epidermolysis
تعداد نتایج: 5839 فیلتر نتایج به سال:
We describe a 49-year-old Japanese woman with cutaneous squamous cell carcinoma (SCC) developing from recessive dystrophic epidermolysis bullosa (RDEB). Interestingly, immunohistochemical staining revealed dense infiltration of CD163(+) M2 macrophages and numerous Foxp3(+) regulatory T cells (Tregs) around the tumor. Since the contribution of immunosuppressive factors (e.g. TGFβ) to the carcino...
OBJECTIVE To determine the cause-specific risks of death in children with epidermolysis bullosa (EB). STUDY DESIGN Data were collected throughout the continental United States between 1986 and 2002 by the National EB Registry. The study design is cross-sectional (n = 3280), containing within it a nested randomly sampled longitudinal subcohort (n = 450). RESULTS The risk of death during infa...
OBJECTIVE To report our pediatric experience with amniotic membrane transplantation for ocular surface and forniceal reconstruction. METHODS Retrospective case review of children who underwent superficial keratectomy, symblepharon lysis, and forniceal reconstruction using amniotic membrane transplantation. The underlying diagnosis, visual acuity, level of discomfort at first and last visits, ...
RDEB is a rare bullous genodermatosis caused by mutations in COL7A1. Clinical features range from severe wounds to esophageal strictures and anemia. Prior work has identified associations of biallelic COL7A1 premature termination codon (PTC) with more disease, likely absent or severely truncated type VII collagen (C7), but genotype-phenotype for other including splice site (SP) missense (MS) re...
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