ABSTRACT
BACKGROUND: We have previously reported oxidative and fatty acids disturbances in one Papillon-Lefèvre syndrome (PLS) family. This Mendelian condition characterized by palmar plantar keratosis and severe aggressive periodontitis, is caused by mutations in the cathepsin C (CTSC) gene. In this study, we have analysed two further unrelated PLS families to confirm this association. METHODS: Mutations were identified by direct sequencing of CTSC. Biochemical analyses were performed in probands and their relatives in order to determine plasma levels of vitamin E, CoQ10 , lipid hydroperoxides (HP) and fatty acid patterns. RESULTS: Pathogenic CTSC mutations were identified in both families including a new mutation (c504C>G). Both probands showed low levels of vitamin E and CoQ10 , and high levels of lipid HP, and also very low levels of docohexaenoic acid. CONCLUSIONS: The previously reported oxidative and fatty acids disturbances were confirmed as a feature of this condition in two further families. There are low levels of antioxidant markers and high levels of oxidative markers, in addition of low levels of some anti-inflammatory fatty acids in persons suffering PLS and some of their relatives.
Subject(s)
Fatty Acids/metabolism , Mutation , Oxidative Stress , Papillon-Lefevre Disease/metabolism , Adult , Aged , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Papillon-Lefevre Disease/genetics , Pedigree , Polymerase Chain ReactionABSTRACT
This report describes a benign myoepithelioma of the lung that occurred in a 60-year-old woman. The patient had experienced hoarseness for 6 weeks, and a computed tomographic scan showed a nodule of approximately 2 cm in diameter at the peripheral portion of her right upper lung. Positron emission tomography showed no uptake of F-18 fluorodeoxyglucose in the nodule. Wedge biopsy of the lesion showed benign spindle cells arranged in a whorled pattern. The cells were positive for both cytokeratin and smooth muscle actin, which corresponded to the presence of tonofilaments and myofilaments that were identified ultrastructurally. The features of the present case of benign myoepithelioma that differ from features of previously reported benign and malignant cases of myoepithelioma in the lung are discussed in the report.
Subject(s)
Lung Neoplasms/diagnosis , Myoepithelioma/diagnosis , Actin Cytoskeleton/chemistry , Actin Cytoskeleton/ultrastructure , Actins/analysis , Biopsy , Cell Nucleus/ultrastructure , Cytoplasm/ultrastructure , Deoxyglucose , Female , Fluorine Radioisotopes , Glial Fibrillary Acidic Protein/analysis , Humans , Immunohistochemistry , Keratins/analysis , Lung Neoplasms/pathology , Middle Aged , Muscle, Smooth/chemistry , Muscle, Smooth/ultrastructure , Myoepithelioma/pathology , Tomography, Emission-Computed , Tomography, X-Ray Computed , Vimentin/analysisABSTRACT
A 55-year-old white woman presented with a one-month history of a palpable breast mass. A mammogram was performed six months prior to her presentation and was read negative. However, the mammogram done two weeks prior to her clinical visit was suspicious for malignancy. Physical examination revealed a 1.5 cm to 2 cm palpable right breast mass. She underwent excision of the mass. Gross examination of the mass revealed a 2.5 cm well defined, ovoid-shaped, firm tan white tumor with a scalloped border, irregular extension into the surrounding tissue, and a granular cut surface. Largest tumor diameter was 2.5 cm. Microscopic examination of the tumor revealed small tumor cells with a solid, alveolar, and classic "single file" arrangement. There is also focal expansion and filling of the acini by similar small cells.
