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Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, [1] is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3).
Porphyria is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
Histopathology of localized TGCT arising in hand finger. H&E stain. Localized TGCT is sometimes referred to as localized pigmented villonodular synovitis (L-PVNS), giant cell tumor of the tendon sheath (GCT-TS), nodular tenosynovitis, localized nodular tenosynovitis, and L-TGCT. [1]: 1 [2]: 100 The localized form of TGCT is more common.
Pallesthesia (\ˌpal-es-ˈthē-zh(ē-)ə\), or vibratory sensation, is the ability to perceive vibration. [1] [2] This sensation, often conducted through skin and bone, is usually generated by mechanoreceptors such as Pacinian corpuscles, Merkel disk receptors, and tactile corpuscles. [1]
CDD is a rare condition, with only 1.7 cases per 100,000. [13] [14] [15]A child affected with childhood disintegrative disorder shows normal development. Up until this point, the child has developed normally in the areas of language skills, social skills, comprehension skills, and has maintained those skills for about two years.
Choking, also known as foreign body airway obstruction (FBAO), is a phenomenon that occurs when breathing is impeded by a blockage inside of the respiratory tract.An obstruction that prevents oxygen from entering the lungs results in oxygen deprivation.
Eosinophilic fasciitis (/ ˌ iː ə ˌ s ɪ n ə ˈ f ɪ l ɪ k ˌ f æ ʃ i ˈ aɪ t ɪ s, ˌ iː oʊ-,-ˌ f æ s i-/ [2] [3]), also known as Shulman's syndrome, [4] is an inflammatory disease that affects the fascia, other connective tissues, surrounding muscles, blood vessels and nerves.
Pagophagia (from Greek: pagos, frost/ice, + phagō, to eat [1]) is the compulsive consumption of ice or iced drinks. [2] It is a form of the disorder known as pica, which in Latin refers to a magpie that eats everything indiscriminately. [3]