Ataxia telengectasia:
Is an autosomal dominant disorder characterized by:
Skin manifestations:
A broad scaly rash may have a early appearance in infants who do not die directly and are promoted to reddish and are associated with alopecia (alopecia).
Degeneration and hyperpigmentation are similar to coffee spots with milk.
Often this has a cutaneous cutaneous distribution. Allergy to gray pigment Packer for hair Black shakes and eczema are all common manifestations.
General features:
- manifestations of mucous membranes.
- Expansion of mucous mucous membranes.
- Progressive ataxia.
- Lung infections and recurrent sinuses.
- Common immune deficiency.
- Increase the tendency of malignancy.
- Frequent episodes of acute metabolic disease.
- Clear neurological manifestations such as seizures.
- Acidosis occurs during the first days of life.
- Death may occur quickly if the diagnosis does not appear early and treatment begins early.
Diagnosis:
- The diagnosis confirms the identification of the descriptive model of organic polycystic acid.
Prenatal diagnosis is accessible in several ways and embryos can be treated by the donor's mother.
Blood image:
- Peripheral blood count usually shows lymphocytes and hyperlipidemia.
- IgA deficiency and thalassemia are very common.
Treatment:
- Biotin treatment 10 40 mg daily.
Is an autosomal dominant disorder characterized by:
Skin manifestations:
A broad scaly rash may have a early appearance in infants who do not die directly and are promoted to reddish and are associated with alopecia (alopecia).
Degeneration and hyperpigmentation are similar to coffee spots with milk.
Often this has a cutaneous cutaneous distribution. Allergy to gray pigment Packer for hair Black shakes and eczema are all common manifestations.
General features:
- manifestations of mucous membranes.
- Expansion of mucous mucous membranes.
- Progressive ataxia.
- Lung infections and recurrent sinuses.
- Common immune deficiency.
- Increase the tendency of malignancy.
- Frequent episodes of acute metabolic disease.
- Clear neurological manifestations such as seizures.
- Acidosis occurs during the first days of life.
- Death may occur quickly if the diagnosis does not appear early and treatment begins early.
Diagnosis:
- The diagnosis confirms the identification of the descriptive model of organic polycystic acid.
Prenatal diagnosis is accessible in several ways and embryos can be treated by the donor's mother.
Blood image:
- Peripheral blood count usually shows lymphocytes and hyperlipidemia.
- IgA deficiency and thalassemia are very common.
Treatment:
- Biotin treatment 10 40 mg daily.
Labels
skin diseases