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Precocious
senility of striking degree is characteristic of this exceedingly rare
disorder.
The name progeria stems from the Latin and Greek words pro and
geraios and means literally, 'early old age'. The disease is
also known as the Hutchinson-Gilford syndrome, after the physicians
who first described it, Hutchinson in 1886 and Gilford in 1904. Children
with progeria age about ten times faster than normal. This means that
these children develop the symptoms of other diseases, which normally
occur only in people in their seventies or eighties, at the early age
of ten or twelve years.
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Generally,
the children look perfectly normal during their first year of life,
but after this the symptoms unfold rapidly. Among the first symptoms
to develop are: hair loss, disappearance of cheek fat with sharpening
of facial features, and diminished growth. Subcutaneous fat rapidly
disappears completely and the skin becomes thin and brownish with the
underlying blood vessels clearly visible. Dental development is also
abnormal with delayed shedding of deciduous teeth and early loss of
permanent teeth. A severe and painful arthrosis develops, with thickening
of the joints leading to impaired mobility. As the children turn old
within a remarkably short time, their change in appearance can be shocking.
The head is disproportionally large and bald and the facial appearance
is one of hollow cheeks with a tight skin, scanty eyebrows and eyelashes,
a pointed nose and, frequently, either crowded or missing teeth. A severe
growth retardation develops and progression of the aging process is
equally as relentless; premature atherosclerosis causes many children
with progeria to have their first stroke or heart attack at a very early
age, mostly between their twelfth and fifteenth year of life.
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Progeria
is extremely rare. World-wide approximately 36 people are known to have
this disease. Following the first description of the disease in 1886,
approximately one hundred cases have been registered. The incidence
is estimated at 1 in 10,000,000 births for the annual number of new
cases, equally spread over all parts of the world and irrespective of
race or skin colour. The exact cause of progeria is still unknown. Possibly,
it is caused by a genetic defect in the repair of DNA, the genetic material
in all living cells, but this has not been proved. Due to the extreme
rarity of the disease and, usually, its sporadic occurrence within families,
it is at present impossible to identify the genetic defect by simply
performing studies within families. In most cases the mutation is probably
'fresh' or has occurred only by chance in the child and does not occur
in either of the parents. For this reason, prenatal diagnosis is not
possible.
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Children
with progeria bear a remarkable resemblance to each other both regarding
their outward appearance and their symptoms. Their mental development
and intelligence is entirely normal and appropriate for their calendar
age. At school they are able to perform quite well and thanks to their
open and cheerful nature are readily accepted by their schoolmates.
However, due to their unusual appearance, they are frequently stared
at by strangers and must therefore learn to cope with this from an early
age. Their witty reactions to unthoughtful remarks are well-documented.
When Jason, a boy with progeria was asked, "When are you going to die?",
he retorted: "When are you going to?".
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