Hutchinson-Gilford syndrome
Hutchinson-Gilford syndrome Causes
Hutchinson-Gilford Progeria Syndrome (HGPS) is a childhood disorder that resulted from mutations in one of the major architectural proteins of the cell nucleus.
Hutchinson-Gilford syndrome Definition
Hutchingson-Gilford syndrome (also known as progeria) is a very rare disease of premature aging in young children, marked mainly by a birdlike, "wizened old man" facial appearance, premature bodily ageing (progeria) and dwarfism. The children have bird-like features, large skull, atrophy of muscles and skin, loss of subcutaneous fat, high serum lipid levels and early atherosclerotic changes in the vessels.
Hutchinson-Gilford syndrome Diagnosis
Diagnosis is suspected according to signs and symptoms, such as abnormal growth, skin changes, and loss of hair. Progeria can be confirmed through a genetic test.
Hutchinson-Gilford syndrome Symptoms and Signs
The earliest symptoms include failure to thrive and a localized scleroderma-like skin condition. As the child grows past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance with small face and jaw and pinched nose all are associated with progeria. The people diagnosed with this disease usually have small, fragile bodies like those of aged people. Later the condition leads to wrinkled skin, atherosclerosis and cardiovascular problems.
Hutchinson-Gilford syndrome Treatment
No treatments have been proven useful for progeria. Most treatment focuses on decreasing complications such as cardiovascular disease, such as heart bypass surgery or low-dose aspirin.