Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982. Cause
Fucosidosis is an autosomal recessive disorder that affects many areas of the body. Mutations in the FUCA1 gene causes fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. The enzyme plays a role in the breakdown of complex sugars in the body. The disorder is characterized by lysosomal accumulation of a variety of glycoproteins, glycolipids, and oligosaccharides that contain fucose moieties. The deficiency of the enzyme alpha-L-fucosidase, which is used to metabolize complex compounds in the body (fucose-containing glycolipids and fucose-containing glycoproteins). With the lack of this enzyme activity, the result is incomplete breakdown of glycolipids and glycoproteins. These partially broken down compounds accumulate in various parts of the body and begin to cause malfunction in cells,  and can eventually cause cell death. Brain cells are especially sensitive to this buildup. Other results are progressive neurological deterioration, skin abnormalities, growth retardation, skeletal disease, and coarsening of facial features. Fucosidosis is the consequence of faulty degradation of both sphingolipids and polysaccharides.
Physical urticaria is a distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously. There are seven subcategories that are recognized as independent diseases. Physical urticaria is known to be painful, itchy and physically unappealing; it can recur for months to years of a persons life. Signs and symptoms
Urticaria are characterized by dermal edema (wheal, swollen) and erythema (flare, red), also known as hives. Hive lesions typically last less than 24 hours and are usually itchy (pruritic). Hives can appear anywhere on the body and they may change shape, move around, disappear and reappear over short periods of time. Types of hives
Acute urticaria (short-term): can develop suddenly and will last less than 6 weeks. About 1 in 6 people will have acute hives at one point in their life.Chronic urticaria (long-term): can develop suddenly and will persist more than 6 weeks. This type of urticaria is uncommon and occurs in only 0.1% of the population. 20% of people with chronic urticaria report still having problems 10 years after its onset. Causes
The cause of physical urticaria is unknown but it has been suggested to be an autoimmune disease.