Werner Syndrome (Adult Progeria)

Figure 2.24 A: Werner syndrome (Reprint from Baykal C, Yazganoglu KD. Dermatological Diseases of the Nose and Ears. Berlin: Springer; 2010) B: Progeria (Courtesy of the Howard family) C: Hyper-IgE syndrome (Reprint from Burgdorf WH, Plewig G, Wolff HH, Landthaler M, eds. Braun- Falco’s Dermatology. 3rd ed. Heidelberg: Springer; 2009)

• AR, RECQL2 gene mutation (WRN gene), encodes RecQ DNA helicase, genomic instability (↑ aging/cancer)
• Normal growth until second decade, then short stature/thin limbs, graying of hair in adolescence, central obesity, pinched facial expression, beaked nose, micrognathia, high-pitched voice, mottled hyperpigmentation, sclerodermoid changes, cataracts, diabetes mellitus, premature atherosclerosis, chronic leg ulcers
• ↑ Soft tissue sarcomas, osteosarcomas, SCCs