A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids. The individual's appearance improved dramatically during hospitalization and at discharge resembled congenital ichthyosiform erythroderma.
View Article and Find Full Text PDFSeveral clinical and histopathologic variants of mycosis fungoides (MF) have been well described, including the often elusive interstitial MF. Differentiation from other inflammatory disorders, such as interstitial granuloma annulare (GA) and inflammatory morphea, may be extremely difficult. We report a case of MF and GA coexisting in a 54-year-old woman who initially presented to clinic in 2000 with slightly scaly patches on the trunk and extremities, histopathologically diagnostic of MF.
View Article and Find Full Text PDFPurpose: CLIC4, a member of a family of intracellular chloride channels, is regulated by p53, c-Myc, and tumor necrosis factor-alpha. Regulation by factors involved in cancer pathogenesis, together with the previously shown proapoptotic activity of CLIC4, suggests that the protein may have a tumor suppressor function. To address this possibility, we characterized the expression profile, subcellular localization, and gene integrity of CLIC4 in human cancers and determined the functional consequences of CLIC4 expression in tumor epithelium and stromal cells.
View Article and Find Full Text PDFPurpose: To evaluate the role of transvitreal optic neurotomy in the treatment of nonarteritic anterior ischemic optic neuropathy, a scleral outlet compartment syndrome, in which neurovascular compression at the prelaminar and laminar regions of the optic nerve head may play a major role.
Methods: Seven eyes of seven selected patients with severe vision loss (<20/800) from nonarteritic anterior ischemic optic neuropathy underwent transvitreal nasal radial optic neurotomy. The study was not masked and not randomized.