By Gary M. White, MD
Waardenburg Syndrome (WS) is a rare hereditary disorder that is characterized by heterochromia iris, a white forelock, congenital deafness, lateral displacement of the eyes, and a broad nasal root.
- Vitiligo-like spots may occur.
- Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the SRY-box10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies.
With regard to the skin, a white forelock (poliosis) present at birth is characteristic. The poliosis may disappear over time. The eyebrows, eyelashes, and scalp hair may become prematurely gray or white (beginning as early as mid-childhood, adolescence, or early adulthood). In some cases, white, vitiligo-like patches may occur, particularly on the face and arms.
An 11-month-old boy with a white forelock on the anterior scalp and hypopigmented macules on the trunk, all present since birth. Dermatology Online Journal 17 (11): 3
White forelock in association with hypopigmented iris and white spots on skin in one of the members of the family, or white forelock and a white spot on the face. Med Oral Patol Oral Cir Bucal. 2016 May; 21(3): e321–e327
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