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Medical genetics. Named after. Donovan James McCune. Fuller Albright. McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the G s heterotrimeric G protein. [ 1]
Urticaria pigmentosa is characterized by excessive amounts of mast cells in the skin. Red or brown spots are often seen on the skin, typically around the chest, forehead, and back. These mast cells, when irritated (e.g. by rubbing the skin, heat exposure), produce too much histamine, triggering an allergic reaction that leads to hives localized ...
Hyperpigmentation can be diffuse or focal, affecting such areas as the face and the back of the hands. Melanin is produced by melanocytes at the lower layer of the epidermis. Melanin is a class of pigment responsible for producing color in the body in places such as the eyes, skin, and hair. The process of melanin synthesis (melanogenesis ...
Stevens–Johnson syndrome (SJS) is a type of severe skin reaction. [1] Together with toxic epidermal necrolysis (TEN) and Stevens–Johnson/toxic epidermal necrolysis (SJS/TEN) overlap, they are considered febrile mucocutaneous drug reactions and probably part of the same spectrum of disease, with SJS being less severe.
Signs and symptoms. Dermatographic urticaria is sometimes called "skin writing", as it is possible to mark deliberate patterns onto the skin. The condition manifests as an allergic-like reaction, causing a warm red wheal to appear on the skin. As it is often the result of scratches, involving contact with other materials, it can be confused ...
Noonan syndrome with multiple lentigines ( NSML) which is part of a group called Ras / MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene ( PTPN11 ). The disease is a complex of features, mostly involving the skin, skeletal and ...
Cardiology. Cherry angioma, also called cherry hemangioma [ 1] or Campbell de Morgan Spot, [ 2] is a small bright red dome-shaped bump on the skin. [ 3] It ranges between 0.5 – 6 mm in diameter and usually several are present, typically on the chest and arms, and increasing in number with age. [ 3][ 4] If scratched, they may bleed. [ 5]
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]