Werner Syndrome Clinical Presentation
- Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD more...
In young adults, mutation in the WS gene is believed to be associated with clinical symptoms typically found in elderly individuals.
The most important feature of WS is healthy development in the patient's first decade of life.
Adult progeria is usually diagnosed on the basis of characteristic clinical features and typical concomitant diseases.
The hallmark of this syndrome is a striking disproportion between the patient's real age and the patient's appearance.
In general, this is an adult-onset disorder, with the earliest sign the lack of a growth spurt during adolescence. A prematurely aged appearance with gray hair and sclerodermatous cutaneous changes begins in the 20-30s in association with cataracts, diabetes mellitus, atherosclerosis, cancers, and osteoporosis.
Metabolic abnormalities, including insulin resistance, may not be a pivotal part at disease onset.
Perform a thorough clinical and laboratory examination, keeping in mind the patient's increased risk of neoplasms.
Characteristic clinical features of the disease
General appearance is as follows:
Short stature, usually less than 1.60 m, is observed.
Thin skin is present on the acral surfaces.
Muscle atrophy is noted.
The skull is relatively large, with a disproportionate lower part of the face.
Skin findings are as follows:
Wrinkling and aging of the face occurs.
A sclerodermalike appearance with nose and lip atrophy is typical.
The nose is pinched, and the cheeks are sunken because of fat loss, which causes the birdlike facial appearance.
Loss of subcutaneous fat complicated with ulceration can be observed on the shins and feet.
In most patients, calluses, hyperkeratosis, and ulcerations on the soles are present mainly over bony prominences.
Graying of the hair, loss of hair, and nail dystrophy usually are observed.
A high-pitched voice is characteristic.
Cataracts, as follows:
Rapidly progressing cataracts typically occur when patients are aged 20-40 years.
Cataracts are usually posterior and subcapsular.
Osteoporosis: Disturbances in the parathyroid glands are the main cause of osteoporosis.
Neoplasia, as follows:
Hematologic malignancies (leukemia and preleukemic conditions of the bone marrow  )
Carcinomas of the thyroid  and other organs
Cutaneous malignancies, including malignant melanoma 
Possible evolution of ankle and heel ulcers into squamous cell carcinomas
Vascular changes (arteriosclerotic type)
Hypogonadism or agonadism and premature menopause
Soft tissue calcification
Primary bone neoplasms 
WS is a genetic disorder. See Pathophysiology.
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