HEALTH - PROGERIAA very rare disease of premature aging in young children, characterized mainly by a birdlike, “wizened old man” facial appearance, premature bodily aging (progeria) and dwarfism. The children have large skulls, bird-like features, atrophy of muscles and skin, loss of subcutaneous fat, high serum lipid levels and early atherosclerotic changes in the vessels. The child is normal at birth. Intelligence is usually normal. The average age of death is 16 years, but survivors until 26 years have been recorded. Occur in children of both sexes. Death is usually caused by the effects of arteriosclerosis. Etiology and mode of genetic transmission (if any) is unknown. Hutchinson-Gilford progeria was discovered in 1886 by Jonathan Hutchinson. He documented the clinical features of a boy aged 6 years who had congenital absence of the hair and atrophy of the skin. Hastings Gilford followed up this patient and another, and in 1897 recognized it as a clinical entity and introduced the term “progeria” from the Greek work meaning “prematurely old.” In his case report published in 1904 he provided a set of pictures of the disorder from infancy to the age of 17 years, in which the characteristic alopecia, fat loss and premature aging are clearly depicted.
SymptomsSlowed growth, with below-average height and weight
A narrowed face and beaked nose
Hair loss (alopecia), including eyelashes and eyebrows
Hardening and tightening of skin on trunk and extremities (scleroderma)
Head disproportionately large for face
Thin lips
Visible veins
Prominent eyes
Small lower jaw (micrognathia)
High-pitched voice
Delayed and abnormal tooth formation
Diminished body fat and muscle
Stiff joints
Hip dislocation
Insulin resistance
Irregular heartbeat
Treatment
There is no test to confirm progeria and no cure. Physicians normally make the diagnosis based on symptoms and signs – such as hair loss as well as not growing. These are normally not fully evident until about the age of 2.
More Information
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