What’s the Cause of This Girl’s White Hair, Milky Skin, and Blue Eyes?

Authors:
Alexander K. C. Leung, MD; Joseph M. Lam, MD; and Amy A. M. Leung, OD

Citation:
Leung AKC, Lam JM, Leung AAM. What’s the cause of this girl’s white hair, milky skin, and blue eyes? Consultant. 2018;58(5):e172.

A 3-year-old Chinese girl presented with white hair (Figure 1), white eyelashes, white eyebrows, depigmented skin, and translucent light-blue irides (Figure 2), all of which had been noted at birth. The depigmentation had not improved with time.

The girl had been born to a gravida 3, para 2, 30-year-old mother at term following an uncomplicated pregnancy and vaginal delivery. The Apgar score was 7 at 1 minute and 9 at 5 minutes. Her birth weight was 2980 g and length was 49 cm. The neonatal course had been uneventful. Her developmental milestones were normal. She had prominent photophobia. The parents were first-degree cousins and were apparently in good health. Her parents, her 7-year-old brother, and her 5-year-old sister had typical Asian skin complexion, dark hair, and brown irides.

On examination, the patient’s scalp hair, eyelashes, and eyebrows were white, and she had milky white skin. Ophthalmologic examination revealed reduced visual acuity, horizontal nystagmus, translucent light-blue irides, foveal hypoplasia, and retinal hypopigmentation. She had no other congenital anomalies, and the rest of the systemic physical examination findings were otherwise normal.