Fig. 1.

Clinical images. A and B) Case 1, patient XP12BE, disease progression. A) At age 35 yrs, her face is thin with loss of subcutaneous tissue and scars from more than 100 surgical procedures for removal of skin cancers. Her eyes show mild conjunctival injection bilaterally. Her lips have cheilitis. B) At age 41 yrs, she had progressive loss of subcutaneous tissue with deep set eyes. Scarring of the eyelids, retraction of both lower eyelids, and a 4–6 mm lagophthalmos was present bilaterally without lash loss. C) Case 2, patient XP18BE, at age 40 yrs. Her face shows diffuse erythema and a surgical scar on her nose. There is mild conjunctival injection and ptosis of the left eyelid. Her lips have cheilitis. [The patients and their families provided permission to use these images.]