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Diseases » Telangiectasia » Glossary
 

Glossary for Telangiectasia

  • Aging: The medical conditions from getting older.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Alpha-N-acetylgalactosaminidase deficiency, Type II: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
  • Angiokeratoma: A harmless, discolored, raised skin lesion involving damaged blood capillaries. The lesion ranges in color from red to blue and the skin involved is usually thickened.
  • Arterial tortuosity syndrome: A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints.
  • Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
  • Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
  • Basal cell carcinoma: Basal cell carcinoma is a slow-growing form of skin cancer.
  • Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
  • Bosviel syndrome: A rare condition where a blood blister on the uvula ruptures. It often occurs as a complication of tracheal intubation.
  • CREST syndrome: Group of symptoms usually related to systemic sclerosis
  • Carcinoid syndrome: Carcinoid heart disease is a rare, metastatic disease that occurs predominantly in the right heart. The tricuspid and pulmonic valves are affected, leading to right heart failure, which results in increased morbidity and mortality.
  • Circulatory system conditions: Medical conditions affecting the heart and the circulatory system.
  • Cirrhosis of the liver: Scarring of the liver from alcohol or other causes.
  • Cushing's disease: A condition of hyperadrenocorticism which is secondary to excessive pituitary secretion of ACTH. Cushing's disease is different to Cushing's syndrome which refers to the effects of glucocorticoid excess from any cause.
  • De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well neurologic involvement.
  • Dermatomyositis: A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash.
  • Ethanol -- Teratogenic Agent: There is evidence to indicate that exposure to Ethanol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Fabry's Disease: Genetic fat storage disorder
  • Glaucoma: Glaucoma is the term for a diverse group of eye diseases, all of which involve progressive damage to the optic nerve. Glaucoma is usually, but not always, accompanied by high intraocular (internal) fluid pressure. Optic nerve damage produces certain characteristic visual field defects in the individual's peripheral (side), as well as central, vision.
  • Glomerulonephritis -- sparse hair -- telangiectases: A rare syndrome characterized by sparse hair, kidney disease and enlarged skin blood vessels (telangiectasia).
  • Granuloma annulare: A harmless skin disease characterized by raised, bumpy, ring-shaped skin lesions.
  • Graves Disease: is an autoimmune disease characterized by hyperthyroidism due to circulating autoantibodies. Thyroid-stimulating immunoglobulins (TSIs) bind to and activate thyrotropin receptors, causing the thyroid gland to grow and the thyroid follicles to increase synthesis of thyroid hormone.
  • Hereditary hemorrhagic telangiectasia: A rare genetic disorder characterized by epistaxes and multiple telangiectases.
  • Kanzaki disease: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
  • Klippel-Trenaunay Syndrome: A condition which occurs with arthritis and resembles the symptoms of general paresis.
  • Liver conditions: Any condition that affects the liver
  • Liver failure: Acute liver failure (ALF) is an uncommon condition in which the rapid deterioration of liver function results in coagulopathy and alteration in the mental status of a previously healthy individual.
  • Lump: Any type of lump on the skin or body areas
  • Lupus: Autoimmune disease with numerous effects on various organs and linings.
  • N-acetyl-alpha-D-galactosaminidase: A very rare enzyme deficiency (N-acetyl-alpha-D-galactosaminidase) which can occur in three forms: type I (infantile-onset neuroaxonal dystrophy), type II or Kanzaki disease (adult-onset) and type III (mild or moderate form).
  • Oral contraceptives -- Teratogenic Agent: There is evidence to indicate that exposure to Oral contraceptives during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Osler's disease: Genetic disease causing multiple teleangiectasias
  • Pain: A feeling of suffering, agony, distress caused by the stimulation of pain fibres in the nervous system
  • Poikiloderma of Kindler: A rare disorder characterized by fragile skin which blisters easily even after a mild trauma as well as photosensitivity and striated skin pigmentation (diffuse poikiloderma striate.
  • Poikiloderma of Rothmund-Thomson: A rare disease which causes sufferers to have a senile-like appearance with skin, growth, hair and eye abnormalities.
  • Pregnancy: The condition of supporting a fetus from conception till birth.
  • Pulmonary edema: Severe condition of excess fluid in the lungs.
  • REST syndrome: A condition that is similar to CREST syndrome but doesn't include calcinosis. The disorder affects the skin, blood vessels and digestive tract.
  • Rombo syndrome: A very rare syndrome characterized mainly by hair anomalies and skin problems.
  • Rosacea: Inflammatory rash affecting cheeks, nose, forehead, chin
  • Rothmund-Thomson Syndrome: A syndrome which is characterized by atrophy, pigmentation and telangiectasia of the skin.
  • Schindler disease: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. The most severe form usually results in death within a few years of birth whereas the mild form doesn't cause symptoms until after the age of 30. The type and severity of symptoms varies depending on which form of the disease is involved.
  • Scleroderma: A rare, progressive connective tissue disorder involving thickening and hardening of the skin and connective tissue. There are a number of forms of scleroderma with some forms being systemic (involving internal organs).
  • Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
  • Spider naevi: A lesion on the skin where there is a central red spot from which blood vessels radiate, whereby, when it is pressed the red disappears.
  • Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
  • Systemic mastocytosis: A condition which is characterized by an accumulation of mast cells in the tissues of the body
  • Telangiectasia: The permanent dilation of pre-existing small blood vessels
  • Varicose veins: Enlarged blue veins, usually in the legs.
  • Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.
  • Xeroderma pigmentosum: A rare pigmentary disease that is caused by an enzyme deficiency
  • Xeroderma pigmentosum, type 1: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation - type 1 has the lowest level of repair and the most neurological complications.
  • Xeroderma pigmentosum, type 2: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type B is often associated with signs of Cockayne syndrome.
  • Xeroderma pigmentosum, type 3: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Neurological symptoms are rarely experienced in type 3.
  • Xeroderma pigmentosum, type 4: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type D involves neurological symptoms.
  • Xeroderma pigmentosum, type 5: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type E is a very rare form of the condition and involves mild skin symptoms with no neurological symptoms.
  • Xeroderma pigmentosum, type 6: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. The skin and neurological symptoms in Type 6 tend to be mild.
  • Xeroderma pigmentosum, type 7: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type G usually involves severe neurological symptoms.
  • Zieve syndrome: Liver and blood abnormalities caused by heavy alcohol consumption.

 

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