Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. In some individuals, Degos disease will be limited to the skin (benign cutaneous Degos disease); other individuals will also develop symptoms affecting  Read More

Enzyme replacement may be effective in slowing the progression of the disease. The pain in the hands and feet usually responds to anticonvulsants such as phenytoin (Dilantin) and carbamazepine (Tegretol, Tegretol XR , Equetro, Carbatrol). Gastrointestinal hyperactivity may be treated with metoclopramide (Reglan, Octamide, Maxolon). Some individuals may require dialysis or kidney transplantation.    Read More

Fabry disease is a rare genetic disorder of fat (lipid) metabolism characterized by a deficiency of the enzyme alpha-galactosidase A (previously known as ceramide trihexosidase). The disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular compounds and intracellular structures. Alpha-galactosidase funct  Read More

Hereditary Spherocytosis (HS) is a red blood cell disorder caused by a genetic mutation. Though there is no cure for this disorder, there are certain treatment options available depending on the severity of the condition.The treatments for Hereditary Spherocytosis (HS) are as follows:To slow the breakdown of red blood cells, a total or partial Splenectomy (surgical removal of the spleen) is recommended based  Read More

Launois-Bensaude syndrome is a rare condition consisting of adipose masses symmetrically. It is distributed mainly in the upper part of the body. a condition marked by symmetrical, painless diffuse fat deposits under the skin of the arms, legs, upper trunk, and neck.Though its specific mode of inheritance is unknown, the ailment is believed to be genetic; it could be a mitochondrial DNA disease. This condition usually co  Read More

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. In some individuals, Degos disease will be limited to the skin (benign cutaneous Degos disease); other individuals will also develop symptoms affecting  Read More

Henoch-Schonlein purpura is a rare inflammatory disease of the small blood vessels (capillaries) and is usually a self-limited disease. It is the most common form of childhood vascular inflammation (vasculitis) and results in inflammatory changes in the small blood vessels. The symptoms of Henoch-Schonlein purpura usually begin suddenly and may include headache, fever, loss of appetite, cramping abdominal pain, and joint pain. Red or purple sp  Read More

Idiopathic nodular panniculitis usually begins gradually. Abnormal bumps or masses (nodules) appear in the fatty layer under the skin (subcutaneous fat) of the legs, thighs and buttocks. In some patients, the arms, abdomen, and/or face may be involved. These nodules are usually 1-2 centimeters wide and may be either painful and tender or painless. In some patients, the affected area may become blue and red (erythema), ulcerated (open sore with  Read More

If you’re experiencing CU, you may have: wheals (small, raised bumps on the skin) redness around the bumps itching These bumps typically develop within the first six minutes of exercise. Your symptoms may worsen for the next 12 to 25 minutes. Although wheals can appear on your body, they often begin on your chest and neck first. They may then spread out to other areas. These bump  Read More

Perstans hemorrhagica urticaria or Urticaria pigmentosa is a rash that most commonly affects children and young adults.It consists of reddish-brown lesions that, when rubbed, might cause hives or blisters.Darier's sign refers to this reaction.Mastocytosis is a kind of urticaria pigmentosa.Mast cells, which are part of your immune system, accumulate during this time. Mastocytosis can a  Read More