Ann Pathol
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Case Reports
[Alveolar microlithiasis with severe interstitial fibrosis leading to lung transplantation].
Pulmonary alveolar microlithiasis is a rare disease, characterized by extensive phosphocalcic concretions within the alveolar spaces. Pulmonary alveolar microlithiasis is usually asymptomatic and is incidentally found because radiologic findings are characteristic. In about half of the cases, it is an autosomal recessive disorder due to mutations in the SLC34A2 gene. ⋯ She underwent a lung transplantation when she was 49. Pathological examination confirmed the diagnosis of diffuse pulmonary alveolar microlithiasis with interstitial fibrosis. The patient died 3 months after surgery in an infectious context.
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Ganglioneuroma is a benign neoplasm of the sympathetic nervous system most often arising in the posterior mediastinum, retroperitoneum, adrenal medulla and pelvis. The occurrence of ganglioneuroma in the skin is rare with only 10 cases reported in the literature. We report one additional case of primary ganglioneuroma arising in the cheek in a 42-year-old man.
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Composite tumors of the adrenal medulla are rare and have been reported in both the presence and the absence of phacomatosis. Composite pheochromocytoma of the adrenal gland in multiple endocrine neoplasia 2B has not been reported so far. ⋯ Histologic examination confirmed the presence of typical pheochromocytoma with large areas of ganglioneuroma and multifocal medullary carcinoma with cervical lymph nodes metastases. Our report is the first to describe composite pheochromocytoma with multiple endocrine neoplasia 2B; this report underlines the diversity of neoplasms that could be encountered in this disease and the complex mechanisms involved in its pathogenesis.