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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] Symptoms of an attack include abdominal pain, chest pain, vomiting ...
Purple glove syndrome (PGS) is a poorly understood skin disease in which the extremities become swollen, discoloured and painful. [1] PGS is potentially serious and may require amputation. PGS is most common among elderly patients and those receiving multiple large intravenous doses of the epilepsy drug phenytoin. [2]
Leprosy, also known as Hansen's disease ( HD ), is a long-term infection by the bacteria Mycobacterium leprae or Mycobacterium lepromatosis. [4] [7] Infection can lead to damage of the nerves, respiratory tract, skin, and eyes. [4] This nerve damage may result in a lack of ability to feel pain, which can lead to the loss of parts of a person's ...
Immune thrombocytopenic purpura ( ITP ), also known as idiopathic thrombocytopenic purpura or immune thrombocytopenia, is an autoimmune primary disorder of hemostasis characterized by a low platelet count in the absence of other causes. [1] [2] ITP often results in an increased risk of bleeding from mucosal surfaces (such as the nose or gums ...
Kaposi sarcoma. Characteristic purple lesions on the nose of an HIV-positive female. [1] Kaposi's sarcoma ( KS) is a type of cancer that can form masses on the skin, in lymph nodes, in the mouth, or in other organs. [4] [6] The skin lesions are usually painless, purple and may be flat or raised. [6] [8] Lesions can occur singly, multiply in a ...
Stiff-person syndrome. Stiff-person syndrome ( SPS ), also known as stiff-man syndrome, [1] is a rare neurological disorder of unclear cause characterized by progressive muscular rigidity and stiffness. The stiffness primarily affects the truncal muscles and is characterised by spasms, resulting in postural deformities.
What is stiff-person syndrome? Stiff-person syndrome — often called SPS — is a rare autoimmune disorder, meaning that infection-fighting cells in the body mistakenly attack healthy tissues.
Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It may affect humans as well as other mammals (especially dogs ). [4] It was named after the Japanese physician Seiichiro Tarui (b. 1927), who first observed the condition in 1965.