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Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.
Neuromyelitis optica spectrum disorders (NMOSD), including neuromyelitis optica (NMO), are autoimmune diseases characterized by acute inflammation of the optic nerve and the spinal cord (myelitis). Episodes of ON and myelitis can be simultaneous or successive. A relapsing disease course is common, especially in untreated patients. In more than 80% of cases, NMO is caused by immunoglobulin G autoantibodies to aquaporin 4 (anti-AQP4), the most abundant water channel protein in the central nervous system. A subset of anti-AQP4-negative cases is associated with antibodies against myelin oligodendrocyte glycoprotein (anti-MOG). Rarely, NMO may occur in the context of other autoimmune diseases or infectious diseases. In some cases, the etiology remains unknown.
A benign tumor is a mass of cells (tumor) that does not invade neighboring tissue or metastasize. Compared to malignant (cancerous) tumors, benign tumors generally have a slower growth rate. Benign tumors have relatively well differentiated cells. They are often surrounded by an outer surface or stay contained within the epithelium. Common examples of benign tumors include moles and uterine fibroids.
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Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in cystic lung destruction. It predominantly affects women, especially during childbearing years. The term sporadic LAM is used for patients with LAM not associated with tuberous sclerosis complex (TSC), while TSC-LAM refers to LAM that is associated with TSC.
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Atypical adenomatous hyperplasia is a subtype of pneumocytic hyperplasia in the lung. It can be a precursor lesion of in situ adenocarcinoma of the lung. In prostate tissue biopsy, it can be confused for adenocarcinoma of the prostate. The needle biopsy rate is less than 1%.
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) or Reed's syndrome is rare autosomal dominant disorder associated with benign smooth muscle tumors and an increased risk of renal cell carcinoma. It is characterised by multiple cutaneous leiomyomas and, in women, uterine leiomyomas. It predisposes for renal cell cancer, an association denominated hereditary leiomyomatosis and renal cell cancer, and it is also associated with increased risk of uterine leiomyosarcoma. The syndrome is caused by a mutation in the fumarate hydratase gene, which leads to an accumulation of fumarate. The inheritance pattern is autosomal dominant and screening can typically begin in childhood.
Atypical hemolytic uremic syndrome (aHUS), also known as complement-mediated hemolytic uremic syndrome, is an extremely rare, life-threatening, progressive disease that frequently has a genetic component. In most cases it can be effectively controlled by interruption of the complement cascade. Particular monoclonal antibodies, discussed later in the article, have proven efficacy in many cases.
Atypical adenomatous hyperplasia (AAH) is a hyperplastic lesion of the epithelial lining of pulmonary alveoli.
Multifocal micronodular pneumocyte hyperplasia (MMPH) is a subtype of pneumocytic hyperplasia.
MOG antibody disease (MOGAD) or MOG antibody-associated encephalomyelitis (MOG-EM) is an inflammatory demyelinating disease of the central nervous system. Serum anti-myelin oligodendrocyte glycoprotein antibodies are present in up to half of patients with an acquired demyelinating syndrome and have been described in association with a range of phenotypic presentations, including acute disseminated encephalomyelitis, optic neuritis, transverse myelitis, and neuromyelitis optica.
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References
- ↑ Behnes, C. L.; Schütze, G; Engelke, C; Bremmer, F; Gunawan, B; Radzun, H. J.; Schweyer, S (2013). "13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasia". BMC Clinical Pathology. 13: 4. doi: 10.1186/1472-6890-13-4 . PMC 3568416 . PMID 23379654.
- ↑ Ishii, M; Asano, K; Kamiishi, N; Hayashi, Y; Arai, D; Haraguchi, M; Sugiura, H; Naoki, K; Tasaka, S; Soejima, K; Sayama, K; Betsuyaku, T (2012). "Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: A case report". Journal of Medical Case Reports. 6 (1): 352. doi: 10.1186/1752-1947-6-352 . PMC 3512476 . PMID 23072249.
- ↑ Miravet Sorribes, L; Mancheño Franch, N; Batalla Bautista, L (2013). "Multifocal micronodular pneumocyte hyperplasia in a patient with tuberous sclerosis". Archivos de Bronconeumología. 49 (1): 36–7. doi:10.1016/j.arbres.2012.06.006. PMID 22884294.
- ↑ Shintani, Y; Ohta, M; Iwasaki, T; Ikeda, N; Tomita, E; Nagano, T; Kawahara, K (2010). "A case of micronodular pneumocyte hyperplasia diagnosed through surgical resection". Annals of Thoracic and Cardiovascular Surgery. 16 (1): 45–7. PMID 20190710.
- ↑ Kobashi, Y; Sugiu, T; Mouri, K; Irei, T; Nakata, M; Oka, M (2008). "Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: Differentiation from multiple atypical adenomatous hyperplasia". Japanese Journal of Clinical Oncology. 38 (6): 451–4. doi: 10.1093/jjco/hyn042 . PMID 18535095.
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