What is Piebaldism?
Piebaldism is a hereditary condition that affects the coloring of the skin and hair. It’s caused by issues with the movement and development of melanocytes, the cells that are responsible for pigmentation. People with piebaldism are born with areas of white skin and hair, particularly along the midline of the body (the central forehead, scalp, arms, legs, and chest). The most common sign is a lock of white hair just above the forehead.
The mutation in the KIT gene is the most common cause of piebaldism, but scientists have discovered other genes too. The mutation interferes with the melanocytes’ movement, leading to the lack of pigmentation.
If a person has white patches of skin and hair, doctors will carefully examine them to rule out similar conditions, such as Waardenburg syndrome, which can affect other parts of the body beyond the skin.
Though it doesn’t cause any physical harm, piebaldism can affect a person’s appearance, causing social and emotional challenges. There are treatments available to help improve the look of the affected areas. These include skin grafting, cell transplantation, cosmetic camouflage techniques, and dyeing the white hair to match the natural color.
What Causes Piebaldism?
Piebaldism is a genetic condition that can be passed down through families, but it doesn’t always show up in every person who carries the genes. It affects how pigment cells, which give skin its color, move around the body.
Though this condition can be inherited, sometimes, it can also happen because of new genetic changes that weren’t passed down from parents. Scientists have found that this may be related to changes in certain genes known as KIT and SNAI2.
The signs of piebaldism are present from birth, which means that an affected individual will show characteristics of this condition as soon as they are born.
Risk Factors and Frequency for Piebaldism
Piebaldism is a rare genetic condition that affects less than 1 in 20,000 people. It affects both men and women equally and there’s no known tendency for it to affect one race more than others.
Signs and Symptoms of Piebaldism
Piebaldism is a condition people are born with. This condition usually shows up as white patches of skin and hair, following a pattern located in the middle of the body. The most common sign, found in up to 90% of people with piebaldism, is a white forelock, or patch of hair, that is shaped like a triangle. The eyebrows and eyelashes may also show signs of this condition.
These distinctive white patches, or depigmented areas, are often found on the forehead, chest, and middle part of the arms and legs. Sometimes, these white patches are surrounded by, or include, areas of darker skin. What makes piebaldism stand out is that it affects only the skin and hair; it doesn’t manifest in other parts of the body.
- White forelock or triangular patch of hair
- Potential effect on eyebrows and eyelashes
- White patches often found on forehead, chest, and middle part of the arms and legs
- May include or be surrounded by areas of darker skin
- Condition affects only skin and hair
Testing for Piebaldism
The physical traits of a condition called piebaldism can be noticed from birth. Even though this condition does not always show itself, and its appearance can vary, understanding a family’s medical history can help doctors recognize whether it’s an inherited genetic disorder. After a baby is born, doctors perform a detailed physical exam, along with eye and neurological exams to tell piebaldism apart from conditions that also cause patches of light skin, like Waardenburg syndrome and a disorder abbreviated as PCWH. PCWH is associated with a range of medical conditions, including Hirschsprung disease that causes severe constipation.
Waardenburg syndrome might look like piebaldism, but it also causes other issues outside the skin, like being born deaf and having different eye colors. If a newborn also has Hirschsprung disease, it raises concerns that the baby might have PCWH.
Doctors use a special light, known as Wood’s lamp, to differentiate between piebaldism and other skin conditions that cause patches of light skin to appear, such as nevus anemicus and nevus depigmentosus. In some cases, if doctors are unsure about the diagnosis, a skin biopsy (a procedure where a small sample of skin is taken for testing) might be performed, which can help to confirm the condition.
Treatment Options for Piebaldism
Piebaldism is a condition that causes some areas of the skin to lack color, appearing as white spots or patches. While these patches are harmless and don’t change over time, they can cause emotional and social challenges for some people due to their appearance.
Treatments for piebaldism mainly aim to improve the look of these depigmented areas. Some temporary solutions include using cosmetic make-up or hair dye, which can help enhance a person’s quality of life.
More permanent treatments have also been successful. These involve medical procedures like dermabrasion and split-skin grafting, autologous melanocyte transplantation, epidermal sheet grafting, and autologous cell suspension transplantation. These procedures have different methods but all serve a common purpose: introducing or imitating the function of the pigment-producing cells called melanocytes that are missing in depigmented skin areas.
Because piebaldism affects the pigmentation of the skin, people living with this condition lack the natural protection against the sun that melanin (skin pigment) provides. Hence, doctors highly recommend that those with piebaldism should be educated in taking care of their skin from sun exposure. This can include wearing sunscreen and protective clothing to guard the depigmented areas of their skin from sunburn and other potential damage.
What else can Piebaldism be?
When doctors diagnose piebaldism – a genetic disorder that causes white patches on the skin and hair -, they also consider other similar skin conditions. These skin conditions don’t just affect the skin, but other parts of the body as well.
- Waardenburg syndrome (Types 1-4)
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH)
- Tietz syndrome
Additionally, doctors consider some other disorders that also result in less skin pigment or the destruction of the cells that produce skin pigment:
- Vitiligo
- Nevus anemicus
- Nevus depigmentosus
- Tuberous sclerosis
- Hypomelanosis of Ito
- Chromosome 4q12q21 deletions
What to expect with Piebaldism
People born with piebaldism exhibit two key features: stable patches of white skin (leukoderma) and white hair (poliosis). These areas lacking pigment don’t tend to change or expand after birth, in contrast to a condition like vitiligo. However, instances of the skin and hair spontaneously regaining their color in rare cases have been reported.
Possible Complications When Diagnosed with Piebaldism
Piebaldism on its own does not have any known side effects or complications. This means that a person with only piebaldism typically doesn’t experience any health problems related to this condition.
Preventing Piebaldism
If a diagnosis of piebaldism is made, family members should be reassured that this is a harmless condition that is unlikely to get worse. Piebaldism is a condition characterized by the lack of skin color in certain areas. Because these areas lack epidermal melanin, which naturally protects your skin from the sun, patients with piebaldism need to take extra precautions to protect their skin from sun damage.
It’s important for people with piebaldism to learn about proper sun protection methods for these skin areas that lack pigment. This includes the use of sunscreen with high SPF and clothing items that are specially designed to protect the skin from the sun’s harmful UV rays.
