Werner Syndrome

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 1904.

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.

Autosomal recessive.

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 coronary vascularization.

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 feet. Unusually prominent veins are visible on the chest. Other important features include the presence of micrognathia. It is inherited as an autosomal recessive trait. Approximately 40 cases have been reported in the medical literature.

De Barsy-Moens-Diercks Syndrome (De Barsy Syndrome; Progeroid Syndrome of De Barsy; Corneal Clouding-Cutis Laxa-Mental Retardation Syndrome; Cutis Laxa-Growth Deficiency Syndrome): A rare autosomal recessive disorder. The main characteristics are the severe cutis laxa, athetosis, cloudy corneas of the eyes, large prominent ears, and hypotonia. Other clinical features include hyperextensibility of the joints, frontal bossing, and/or short stature. Significant skin wrinkling is usually present.

Wiedemann-Rautenstrauch Syndrome: An extremely rare neonatal genetic disorder characterized by an aged appearance at birth, prenatal and postnatal growth retardation, and subcutaneous lipoatrophy. The skin appears very thin, fragile and excessively wrinkled at birth. Abnormal accumulation of fat is often observed around the buttocks, the anogenital area and body flanks. It is inherited as an autosomal recessive trait.

Mulvihill-Smith Syndrome: An extremely rare inherited condition presenting significant premature aging. Other clinical features include short stature, microcephaly, facial characteristics of early aging, subcutaneous tissue atrophy, multiple nevi, progressive deafness, and/or immunological deficiencies. The age of onset occurs in childhood or adolescence. It has been reported in only four individuals in the medical literature.

Storm Syndrome (Werner-like Syndrome): An extremely rare inherited disorder combining significant premature aging and severe congenital heart defects. The clinical features during adolescence include the loss of eyebrows and eyelashes and alopecia. The skin over the hands and face is wrinkled in appearance. Arthritis and pain are often manifested.

Rothmund-Thomson Syndrome: An inherited skin disorder characterized by abnormal redness of the skin caused by congested and obstructed capillaries associated with small stature, muscle atrophy, photosensitivity and cataracts during adolescence. Other clinical features include underdeveloped teeth and nails, small hands with malformed or missing thumbs, small feet, and/or sparse and prematurely gray hair or baldness.