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Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of nonhemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants.
782 Symptoms involving skin and other integumentary tissue. 782.0 Sensory disturbance skin; 782.1 Rash, nonvesicular, unspec. 782.2 Localized swelling/mass, superficial; 782.3 Edema, localized, NOS; 782.4 Jaundice; 782.5 Cyanosis; 782.7 Petechiae; 782.8 Change in skin texture; 782.9 Other symptoms involving skin; 783 Symptoms concerning ...
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]
The diagnosis is generally suspected when patients from certain ethnic groups (see epidemiology) develop anemia, jaundice and symptoms of hemolysis after challenges from any of the above causes, especially when there is a positive family history. [23] Generally, tests will include: [citation needed]
Many people never have symptoms. [1] Occasionally jaundice (a slight yellowish color of the skin or whites of the eyes) may occur. [1] Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme.
The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. [1] The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. [3]
The primary factor differentiating carotenoderma from jaundice is the characteristic sparing of the sclerae in carotenoderma, which would be involved in jaundice if the bilirubin is at a level to cause skin findings. In contrast to jaundice, carotenoderma is reported to be better observed under artificial light.
Health professionals can diagnose erythema toxicum neonatorum with a skin exam. Most cases of erythema toxicum neonatorum can be diagnosed without further testing. If more testing is needed to make a diagnosis, the contents of a lesion can be examined under a microscope. A health professional may make a small cut into a pus-filled lesion and ...