A Turkish patient with Hermansky-Pudlak syndrome

A 34-year-old woman presented to our outpatient clinic with photosensitivity, photophobia, and facial pruritus (Figure 1). She had brown eyes and fair skin, hair, eyelashes, and eyebrows since birth. Her sister had similar skin and hair pigments. The patient had no systemic disease and was not taking any medication. Her parents were second-degree relatives. A dermatologic examination revealed small hyperkeratotic papules with an erythematous background, minimal desquamation, and some excoriation over the nose, zygomatic arch, and forehead consistent with actinic keratosis and solar damage. An ophthalmological examination demonstrated impaired visual acuity (60/100 in both eyes, reaching 80/100 in the left eye with best correction). Hypopigmentation at the albinotic retinal midperiphery (Figure 2) by fundoscopy was noted. She had no nystagmus or strabismus. The patient had no complaints or symptoms of the neurological, gastrointestinal, or respiratory system, and she had no recurrent skin or systemic infection.