Wednesday, November 22, 2017

Anderson's Fabry disease (Lipoangiokeratoma).. genetic disease linked recessive trait X leads to the pool material "Ceramide" in the tissues and blood vessels

Anderson's Fabry disease:
Is a rare genetic, genetic-related storage disorder that causes the accumulation of ceramide in tissues and blood vessels.
Clinical manifestations:
- This syndrome has complex skin and structural manifestations.
- Skin manifestations in puberty begin with dark blue or black lesions especially on the back, abdomen, buttocks, navel and mouth.
- Systemic manifestations appear in childhood in the form of weakness, colic and muscle cramps.
- In puberty, symptoms such as fever, after exercise (after exertion), lack of sweating, nervous and psychological attacks and severe pain in the feet and hands.
- Serious and even fatal complications in older ages result from cardiac or renal complications or cerebrovascular accidents.