Five cases of ectopic liver, two of retro-peritoneal cavity and three of gallbladder, and a case of accessory lobe of the liver, are reported. One of these cases with ectopic liver was accompanied by multiple cysts of the liver and kidney, and biliary microhamartoma, which was observed laparoscopically on the surface of the main liver and histologically proven in the ectopic liver.
Vascular involvement in sarcoidosis is briefly reviewed with emphasis on the outcome of a 10-year project-study by the Sarcoidosis Research Committee of the Japanese Ministry of Health and Welfare. Examples of vascular disorder associated with sarcoidosis are presented, including basal lamina layering of the capillaries in the skeletal muscle, cardiac muscle, and lung, glomerulopathy in the kidney, vascular changes in the ocular fundus and bronchi, and impaired peripheral circulation that could be detected by thermography. According to our tentative definition, all of these disorders should be collectively called microangiopathy. The possible role of microangiopathy in the pathogenetic mechanism of sarcoidosis is also discussed. Although microangiopathy in sarcoidosis is a comprehensive term, it should be included, in addition to systemic granulomatous disease, as part of the clinicopathological entity of sarcoidosis.
Keratocystic odontogenic tumor (KCOT) arises as part of Gorlin syndrome (GS) or as a sporadic lesion. Gene mutations and loss of heterozygosity (LOH) of the hedgehog receptor PTCH1 plays an essential role in the pathogenesis of KCOT. However, some KCOT cases lack evidence for gene alteration of PTCH1, suggesting that other genes in the hedgehog pathway may be affected. PTCH2 and SUFU participate in the occurrence of GS-associated tumors, but their roles in KCOT development are unknown. To elucidate the roles of these genes, we enrolled 36 KCOT patients in a study to sequence their entire coding regions of PTCH1, PTCH2 and SUFU. LOH and immunohistochemical expression of these genes, as well as the downstream targets of hedgehog signaling, were examined using surgically-excised KCOT tissues. PTCH1 mutations, including four novel ones, were found in 9 hereditary KCOT patients, but not in sporadic KCOT patients. A pathogenic mutation of PTCH2 or SUFU was not found in any patients. LOH at PTCH1 and SUFU loci correlated with the presence of epithelial budding. KCOT harboring a germline mutation (Type 1) showed nuclear localization of GLI2 and frequent histological findings such as budding and epithelial islands, as well as the highest recurrence rate. KCOT with LOH but without a germline mutation (Type 2) less frequently showed these histological features, and the recurrence rate was lower. KCOT with neither germline mutation nor LOH (Type 3) consisted of two subgroups, Type 3A and 3B, which were characterized by nuclear and cytoplasmic GLI2 localization, respectively. Type 3B rarely exhibited budding and recurrence, behaving as the most amicable entity. The expression patterns of CCND1 and BCL2 tended to correlate with these subgroups. Our data indicates a significant role of PTCH1 and SUFU in the pathogenesis of KCOT, and the genotype-oriented subgroups constitute entities with different potential aggressiveness.
Six juvenile and adult patients with progressive neurological diseases and beta-galactosidase deficiency were reported. Any diseases known to date were denied. These cases together with ten case reports in the literature were reviewed and were classified into three groups from clinical and biochemical points. Group 1 patients were characterized by progressive ataxia and myoclonus with gargoyl changes and macular cherry-red spots. In this syndrome beta-galactosidase activity seems to be secondarily affected by other biochemical defects. A group 2 patient showed similar neurological manifestations without gargoyle changes or macular cherry-red spots. Patients with these clinical features not associated with beta-galactosidase deficiency have also been described in the literature. Group 3 patients had progressive pyramidal and extrapyramidal disease without gargoyl changes or macular cherry-red spots. These cases may represent juvenile and adult type GM1-gangliosidosis. Accumulation of GM1 has not yet been demonstrated.
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