Werner Syndrome (Adult progeria)

Etiology:

A very rare, autosomal recessive disorder.

Resulting from a mutation in the WRN gene, which encodes a helicase protein on chromosome 8p.

Presents as accelerated aging that typically has an adult onset.

Manifestations:

  1. sclerodermalike skin changes
  2. bilateral juvenile cataracts
  3. progeria
  4. hypogonadism
  5. diabetes mellitus
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