Premature aging disease that begins in adolescence or
early adulthood. With short stature, bilateral cataracts, scleroderma-like
skin changes, premature graying or loss of hair, and malignancies
predisposition. The main risks are associated with cardiovascular and neurological
complications because of the atheromatous disease.
Progeria Adultorum; Progeria of the Adult.
First described by C.W. Otto Werner, German physician in
1 to 2 cases per million in general population. More
common in Japan and Sardinia than in other geographic areas. As of 2003, about 1000 cases have
been reported internationally and 800 of them are in Japan. The mean survival age for these
patients is 46 years.
A reduction in the amount of cell DNA repair
activity has been demonstrated and postulated as a cause of the premature
aging. In addition, these patients are at increased risk of developing
malignancies of skin and intestine. Syndrome is caused by mutations in the
RecQ protein-like 2 gene located at 8p12-p11.2.
Characterized by short stature, slender limbs, cataracts,
skin hypoplasia, and stocky trunk.
Patients with Werner syndrome demonstrate
progeria, showing loss of subcutaneous fat, prominent scalp veins, short
stature, weight loss, sclerodermoid skin changes, mottled pigmentation, and
freckling. Hair loss and premature graying are features. Patients frequently
demonstrate premature aging only in their third decade. Development of
endocrine disturbance with diabetes and early atherosclerosis occur, as well
as osteoporosis, hypofertility, hypogonadism, amyotrophy, and retinal
degeneration. Most patients die in their fourth or fifth decade from
malignancy (10% of cases; osteosarcoma and meningioma especially).
Before anesthesia, patients with
this disorder must be thoroughly assessed for evidence of coronary artery
disease and other organ dysfunction. Urea and electrolytes, plasma glucose,
and, possibly, glucose tolerance tests should be performed. Thyroid function
testing should be undertaken. A thorough cardiovascular examination is
supplemented by a 12-lead ECG and possibly further investigation of the
A difficult airway and difficulty
performing direct laryngoscopy and tracheal intubation is a possibility in these
patients because of the skin changes. No specific techniques can be recommended
because each of these rare cases must be handled individually.
Anesthetic drugs should be adapted to
renal function. Muscle relaxants are not contraindicated but amyotrophic changes may
be considered and monitoring is necessary.
Progeria Syndrome: A very rare disorder of childhood.
It is characterized by accelerated premature aging, short stature, and
characteristic facial features. Severe cardiopulmonary problems (including
myocardial infarction in early age) must be carefully considered. Various
orthopedic and orthorhinolaryngological problems are reported.
Gottron Syndrome: A mild, inherited form of
progeria which is characterized by abnormally small hands and feet with thin
and delicate skin. Children affected by this disorder appear older than
their actual age. The skin is unusually thin and very fragile. It has a
parchment-like texture on the hands and ...