What is piebaldism and Waardenburg syndrome?
Piebaldism is a genetic condition characterized by congenital white patches of the skin and hair due to the absence of cells called melanocytes in certain areas of the skin and hair.
Waardenburg syndrome is a group of genetic conditions characterized by hearing loss and changes in the color (pigmentation) of the hair, skin, and eyes.
The name is derived from a combination of the words “pie” (a bird of black and white plumage) and the “bald” of the bald eagle (the US national bird that has a white feathered head).
- Melanocytes are cells that produce the pigment melanin responsible for the color of the hair, eye, and skin.
- The absence of melanocytes leads to lighter-than-normal patches of the skin and hair.
- People with piebaldism have unpigmented patches of skin, typically appearing symmetrically on both sides of the body.
- In most cases, the unpigmented areas are present at birth and do not increase in size or number.
- The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure.
A rare genetic condition characterized by some degree of congenital hearing loss and pigmentation deficiencies.
- Moderate to profound hearing loss can occur in one or both ears.
- The hearing loss is congenital (present from birth).
- People with this condition often have pale blue eyes or different colored eyes, such as one blue eye and one brown eye (sometimes one eye has segments of two different colors).
- Distinguished by their physical characteristics and their genetic cause, the four recognized types of Waardenburg syndrome are:
- Types I and II have similar features. However, people with type I almost always have eyes that appear widely spaced, and people with type II do not necessarily have this feature. Hearing loss occurs more often in people with type II than in those with type I.
- Type III (Klein-Waardenburg syndrome) presents with abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation.
- Type IV (Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease (an intestinal disorder that causes severe constipation or blockage of the intestine).
Key differences between piebaldism and Waardenburg syndrome
|Frequency||Unknown or nonestimated||Estimated to affect 1 in 40,000 people|
|Causes||Mutations in the KIT and SNAI2 genes||Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes|
|Congenital or acquired||Congenital||Congenital|
|Inheritance||Inherited in an autosomal dominant pattern (one copy of the altered gene in each cell is sufficient to cause the disorder)||
|Organs affected||Skin, hair||Ears, hair, skin, eyes|
What are the signs and symptoms of piebaldism and Waardenburg syndrome?
Symptoms of piebaldism include the following:
- A white forelock (white section of the hair near the front hairline, which is a characteristic feature)
- Discolored eyelashes, eyebrows, and skin under the forelock
- Spots or patches of pigmented skin within or around the borders of the unpigmented areas
- Leukoderma (white patch) of the central portion of the forehead
- Cafe-au-lait macules and flexural freckling may develop
Waardenburg Syndrome Symptoms
Symptoms of Waardenburg syndrome include the following:
- Distinctive facial abnormalities, such as cleft lip and wide-set eyes
- Diminished coloration (pigmentation) of the hair, skin, and iris of both eyes (partial albinism)
- Congenital deafness
- Unusually wide nasal bridge due to lateral displacement of the inner angles (canthi) of the eyes (dystopia canthorum)
- White lock of hair growing above the forehead (white forelock)
- Premature graying or whitening of the hair
- Differences in the coloration of the two iris (heterochromia iridis)
- Patchy, abnormally light regions of skin (leukoderma)
How is piebaldism and Waardenburg syndrome treated?
The pigment changes usually remain unchanged throughout life. Pigmented dots and macules may develop at the margins or within the patches of leukoderma that could be progressive in some cases.
- Dermabrasion of the depigmented areas
- Melanocyte transplant
- Suction epidermal grafting or full-thickness punch grafts
- Ultraviolet (UV) light therapy
Waardenburg Syndrome Treatment
- Cochlear implant
- Communication aids (sign language, lip-reading, and other communication devices)
- Appropriate sun-protecting measures
- Physical therapy and orthopedic techniques
DermNet NZ. Piebaldism. https://dermnetnz.org/topics/piebaldism
National Organization for Rare Disorders. Waardenburg Syndrome. https://rarediseases.org/rare-diseases/waardenburg-syndrome/
Janniger CK. Piebaldism. Medscape. https://emedicine.medscape.com/article/1113248-overview
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