Piebaldism is a genetic condition, typically present at birth, in which a person develops an unpigmented or white patch of skin or hair.
The cells that determine eye, skin, and hair color are absent in certain areas in those with piebaldism. These cells are called melanocytes.
In nearly 90 percent of those affected, the area of piebaldism is seen as a patch of white hair near the forehead, also called a white forelock.
Some people may have areas of unpigmented skin or hair in the eyelashes, eyebrows, and skin under the larger unpigmented area of the white forelock as well.
In this article, we examine why piebaldism occurs, what symptoms it causes, and whether there are any treatment options available.
Piebaldism may be caused by genetic mutations that affect melanin production.
Piebaldism is an autosomal dominant genetic disorder, which means that 50 percent of those affected by piebaldism will pass the condition on to their offspring.
Some of the genetic mutations in those people with piebaldism are found in the KIT and SNAI2 genes.
The KIT gene is responsible for sending the body signals to make certain cells, including melanocytes.
When there is a mutation in the KIT gene, melanocytes that are responsible for pigmentation are altered. This leads to a lack of pigmentation in areas of the skin or hair.
When there is a mutation in the SNAI2 or SLUG gene, a protein called snail 2 is negatively affected. Snail 2 is responsible for cell development, including the development of melanocytes, which can lead to white pigmentation changes.
Piebaldism may be seen in some other medical conditions, including Waardenburg syndrome. Waardenburg syndrome affects a person’s hearing and the pigmentation of their hair, skin, and eyes.
Comparison with other conditions
Piebaldism may be confused with other disorders that affect pigment in the body, such as the following.
Vitiligo is a rare autoimmune condition, affecting approximately 1 percent of people worldwide. The body attacks its own melanocytes, leading to progressive and worsening pigment changes in the skin, hair, eyes, mucous membranes, and the inner ear.
Vitiligo is not a genetic condition that people have at birth. It is a condition that appears as a person ages, most commonly before the age of 20.
Poliosis circumscripta is the white forelock that often occurs with piebaldism, which is also a symptom present in several other conditions.
These include Waardenburg, tuberous sclerosis, inflammatory conditions, and both cancerous and non-cancerous conditions.
Alezzandrini syndrome is a rare disorder that is marked by symptoms of hearing loss, hair and skin color changes, and changes in the color of the retina in the eye.
It is thought that the condition may be caused by a virus or appear as part of an autoimmune condition that attacks melanocytes.
In nearly 90 percent of those with piebaldism, the only presenting symptom may be a white forelock.
This patch of white hair appears at the hairline near the forehead. Its shape is typically a triangle, diamond, or a long strip.
Other parts of the body can also be affected by piebaldism. Whitened areas may also include:
- front or side of the abdomen and chest
- middle of the arms
- middle of the legs
The treatment of piebaldism can pose a challenge, and there is no guarantee that treatment will have the desired results. Some of the treatments used for the condition include:
- Dermabrasion: This is a technique where the outer layer of a person’s skin is removed.
- Skin grafting: A procedure where skin containing pigment is attached to the area affected by a lack of pigment.
- Melanocyte and keratinocyte transplantation: During this procedure, cells that create pigment are transplanted to the affected area.
- Erbium: A technique that uses YAG laser surgery grafting.
Phototherapy may be used after dermabrasion or cell transplantation to speed up the development of pigment.
Those with piebaldism are at risk for sunburn and are encouraged to use sunscreen and other protective measures to prevent skin damage.
Some people may choose to use makeup to match the surrounding skin tones and camouflage the area affected by piebaldism.
Piebaldism is not a medical condition that causes health problems. However, it can increase a person’s risk of sunburn and skin cancer due to the risks associated with sun exposure.
As with many other conditions affecting the skin, piebaldism can cause people to feel self-conscious or have other psychological issues.
One study asked people attending a dermatology practice a number of questions to assess the psychological and physical impact of pigment disorders.
The researchers found that nearly half of those taking part in the study reported feeling self-conscious. Other participants had feelings of being unattractive, thoughts that others focused on their skin, and felt their skin condition affected their lives.
Piebaldism is a condition commonly caused by a mutation in certain genes that causes a person to lack melanocytes or the cells responsible for pigmentation. The condition leads to the presence of white patches of skin or hair at birth, making people more at risk of sunburn and skin cancer.
While some treatments do exist, the outcomes vary from person to person.
Piebaldism in itself is not a life-threatening condition, but some people may experience psychological symptoms due to their skin condition. Speaking to a dermatologist or psychiatrist may be helpful in overcoming these feelings.