Evolving red papule in a patient with oculocutaneous albinism

Abstract

A 12-year-old Caucasian girl presented to the dermatology clinic with a congenital lesion on the right thigh with recent-onset tenderness, growth, and change in shape. Her past medical history was significant for oculocutaneous albinism 2 (OCA2) with associated pigmentary dilution, strabismus, nystagmus, and impaired vision. The patient's family history was significant for ovarian and breast cancer on the maternal side with unremarkable maternal genetic work-up. Physical examination revealed yellow orange hair on the scalp, white eyebrows and eyelashes, nystagmus, and a dark red-to-purple 8 Â 7-mm papule with irregular borders and surrounding pale rim on