Werner Syndrome Clinical Presentation

Updated: Jun 21, 2022
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
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Presentation

Physical Examination

Perform a thorough clinical and laboratory examination, keeping in mind the patient's increased risk of neoplasms.

Characteristic clinical features of the disease

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.

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.

Nailfold capillary abnormalities resembling those seen in scleroderma have been described. [25]

Graying of the hair, loss of hair, and nail dystrophy usually are observed.

A high-pitched voice is characteristic.

Soft tissue calcification, including tendon calcification, is an important finding, with Achilles tendon calcification suggested for inclusion as a diagnostic criterion for Werner syndrome. [26]

Related diseases

Rapidly progressing cataracts typically occur when patients are aged 20-40 years. Cataracts are usually posterior and subcapsular.

Disturbances in the parathyroid glands are the main cause of osteoporosis.

It is also associated with diabetes mellitus.

Related neoplasias are as follows:

  • Hematologic malignancies (leukemia and preleukemic conditions of the bone marrow [27] )

  • Carcinomas of the thyroid [27] and other organs

  • Sarcomas (soft tissue [27] ) [28]

  • Meningiomas [27]

  • Cutaneous malignancies, including malignant melanoma [27]

  • Possible evolution of ankle and heel ulcers into squamous cell carcinomas

  • Hyperthyreosis

  • Pituitary dysfunction

  • Vascular changes (arteriosclerotic type)

  • Hypogonadism or agonadism and premature menopause

  • Primary bone neoplasms [27]

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Complications

Complications of Werner syndrome (WS) are related to the concomitant diseases and symptoms described above (see Physical Examination). Pregnancy complicated by the presence of Werner syndrome has been reported. [29]

The variant genotype of WRN Leu1074Phe has been associated with a 1.36-fold significantly increased risk of breast cancer in Chinese women, particularly pronounced in those carrying Phe/Phe genotype and having an earlier age at menarche, to produce a 3.58-fold increased risk of breast cancer. [30]

Patients with WS may develop severe cystoid macular edema after laser therapy. [31] The trauma of cataract surgery may be the main stimulus for the development of cystoid macular edema, which is difficult to manage in WS patients. [32]

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