A teenage girl with bilateral hyperpigmentation of cheeks and sclera and a vascular stain on her cheek: What is your diagnosis?

Abstract

CLINICAL PRESENTATION A 16 year old girl was referred to dermatology clinic with bilateral blue gray hyperpigmented patches on her cheeks since birth. Upon close physical examination, scleral blue-gray hyperpigmentation was observed in both her eyes (Figure 1). She also had a blanchable red patch with poorly defined borders on her right cheek (Figure 2). Ophthalmology consultation further revealed an increased intraocular pressure with optic nerve damage. She had neither systemic problems nor a history of a similar condition in her family.