Werner's syndrome.
Werner's syndrome is a rare autosomal recessive disorder that affects connective tissue throughout the body. The genetic basis is not yet known, although many laboratory abnormalities have been reported. The manifestations are widespread, and many organs may prematurely undergo changes usually associated with aging. The disease generally becomes apparent around puberty, with growth arrest and thinning and graying of hair. Rapidly progressing bilateral cataracts typically occur when patients are in their 20s and 30s. A dermatologist may be consulted because of the scleroderma-like appearance of the skin, lower-extremity ulcers or calluses, thinning and graying of hair or baldness, nail dystrophy or loss, wrinkling and aging of the face, or skin cancers. Patients should have a thorough clinical and laboratory work-up, keeping in mind their elevated risk for neoplasms.
Duvic
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Department of Medical Specialties (Section of Dermatology), University of Texas M.D. Anderson Cancer Center, Houston, USA.
Lemak
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D000328:Adult; D002386:Cataract / Q000235:genetics / Q000473:pathology; D003240:Connective Tissue Diseases / Q000235:genetics / Q000473:pathology; D006201:Hair Diseases / Q000235:genetics / Q000473:pathology; D006801:Humans; D009260:Nail Diseases / Q000235:genetics / Q000473:pathology; D011230:Precancerous Conditions / Q000473:pathology*; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology*; D014898:Werner Syndrome / Q000235:genetics* / Q000473:pathology