Ad
related to: fabry's disease symptoms in adults rash
Search results
Results from the WOW.Com Content Network
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
[5]: 589 The disease is named after Italian dermatologist Vittorio Mibelli (1860-1910). [ 6 ] Angiokeratoma of Fordyce (also known as "Angiokeratoma of the scrotum and vulva," though not to be confused with Fordyce's spots ) [ 5 ] is a skin condition characterized by red to blue papules on the scrotum or vulva.
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
What it looks like: The most recognizable reaction on this list is the bullseye rash—a large, red, target-like rash that signals the early stages of Lyme disease from the bite of an infected ...
Lupus is an autoimmune disease that causes a red scaly rash on the cheeks and nose, says Dr. Parikh. In particular, the rash is characterized as looking like a butterfly across the face, she explains.
Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
Adult-onset Still's disease (AOSD) is a form of Still's disease, a rare systemic autoinflammatory disease characterized by the classic triad of fevers, joint pain, and a distinctive salmon-colored bumpy rash. The disease is considered a diagnosis of exclusion. [1] Levels of the iron-binding protein ferritin may be extremely elevated with this ...
Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Ad
related to: fabry's disease symptoms in adults rash