Werner syndrome (adult progeria)
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A 30-year-old appears much older, with gray hair, skin atrophy, and cataracts. He has developed type 2 diabetes and has a sarcoma.
AR; WRN (RecQ helicase family)
The clinical diagnostic criteria group these into cardinal and additional signs (premature aging, typically apparent in the 20s-30s):
Cardinal signs (onset after puberty):
- Bilateral cataracts
- Scleroderma-like skin changes, atrophy, and chronic ulcers
- Short stature
- Premature graying and hair loss
Additional signs:
- Premature atherosclerosis
- Type 2 diabetes
- Hypogonadism
- "Bird-like" facies, high-pitched voice
- Cancer predisposition (sarcomas, melanoma, thyroid)
- Clinical diagnosis when the cardinal signs above present after puberty, supported by the additional signs
- Supportive laboratory finding: elevated urinary hyaluronic acid
- Confirm with germline WRN sequencing and deletion/duplication analysis
- No disease-specific therapy; care is surveillance and risk-factor management
- Cancer surveillance for the characteristic spectrum (soft-tissue and bone sarcomas, melanoma including acral/mucosal sites, thyroid carcinoma), with low threshold to image and biopsy
- Aggressive cardiovascular risk management: monitor and treat atherosclerosis, dyslipidemia, and type 2 diabetes
- Ophthalmologic evaluation and cataract extraction; wound-care attention for refractory skin ulcers
"In WeRNer syndrome, kids get early WRiNkles": Werner syndrome = premature aging. Kids get "wern (worn)" out easily.
WRN is a RecQ DNA helicase (like BLM): DNA has to be unwound before it can be repaired. Werner = helicase defect causing progeria and cancer predisposition.