Progeria (Hutchinson–Gilford Syndrome)

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)

• AD, lamin A gene mutation (LMNA), encodes lamin A and lamin C (nuclear envelope protein)
• Markedly premature aging (median lifespan 12 years), large appearing cranium, frontal bossing, prominent scalp veins, beaked nose, micrognathia, “plucked bird” appearance, loss of subcutaneous tissue, sclerodermoid skin; alopecia, high pitched voice, average intelligence, severe premature coronary atherosclerosis