Piebaldism: Causes, Symptoms, Treatment

What is Piebaldism?

Piebaldism is a rare genetic disorder the symptoms of which can be easily observed at the time of the birth of the child. This condition is characterized by the presence of a white patch on skin and hair. The reason for this is believed to be due to absence of certain cells that are responsible for the color of the skin, eyes, and hairs. The classic symptom of Piebaldism that is seen in almost 90% of the children affected by this condition is the presence of white hair near the forehead. Some people may have non-pigmented skin around the eyelashes, eyebrows, and skin.[1,2,3]

Piebaldism is an autosomal dominant disorder meaning that only one copy of the defective gene from either parent is good enough for the child to get this condition. It is basically caused by gene mutations that are responsible for production of melanin in the body. The autosomal dominant nature of Piebaldism means that 50% of people affected by this condition will pass it on to their children in the future.[1,2,3]

The primary genes responsible for the development of Piebaldism are believed to be the KIT and SNAI2 gene. It is the KIT gene that is responsible for sending signals to make cells like melanocytes that produces melanin. Due to the defective KIT gene, the function of melanocytes gets impaired affecting the production of melanin resulting in the symptoms as seen with Piebaldism.[1,2,3]

The same goes for the SNAI2 gene which also is responsible for production of certain cells including melanocytes. Defect in this gene again alters the functioning of melanocytes affecting the production of melanin. Piebaldism may also be a symptom of certain other conditions like vitiligo and Waardenburg Syndrome and many people mistake Piebaldism with these disorders.[1,2,3]

What Causes Piebaldism?

As stated, Piebaldism is an autosomal dominant disorder meaning that 50% of people with this condition will pass it on to their off springs. However, there have also been cases where de novo mutations of the KIT and SNAI2 gene have been reported meaning that people with no family history of Piebaldism may also get it.[1,2]

Majority of the clinical manifestations of Piebaldism can be observed at the time of birth. Due to the rarity of the condition only about 1 in 20,000 people tend to get it. There is no gender bias and anyone can get Piebaldism. Additionally, Piebaldism does not have anything to do with ethnicity and people of any race can get this condition.[1,2]

What are the Symptoms of Piebaldism?

The primary symptom of Piebaldism is the presence of white hairs on the midline. This is also termed as white forelock. This is present at the time of birth. In almost all the cases this may be the only symptom that is present. The patch of white hair around the hairline and forehead is normally triangle shaped or it may be in the form of a long strip of hair. However, other parts of the body can also get affected like the eyes, eyelashes, eyebrows, front or side of the chest, middle of the arms and middle of the legs which all will have white patches.[3]

How is Piebaldism Treated?

The treatment for Piebaldism is quite complex and can be a bit of a challenge for physicians. The effectiveness of some of the treatments is variable in that while it may be effective for some it may not give the desired results for others. Some of the treatments for Piebaldism include.[3]

Dermabrasion: it is quite a common dermatologic procedure in which the outer layer of the skin is removed in the affected area thus getting rid of the white patch.[3]

Skin Grafting: This is a dermatologic procedure in which patch of pigmented skin is grafted in the area which lacks pigment thereby getting rid of the patch formed due to Piebaldism.[3]

Melanocyte Transplantation: This is a procedure in which cell that produce melanocytes are transplanted in a person with Piebaldism.[3]

Phototherapy: This treatment is generally given after dermabrasion procedure to speed up the production of melanin so that the white patch of skin fades away.[3]

It should be noted here that people with Piebaldism are always at risk for sunburns and even skin cancer when the affected area gets exposed to direct sunlight. Thus it is recommended for people with this condition to protect the affected area from sun or use lotions, sunscreens, or protective clothing as much as possible to prevent skin damage. Some people, especially females, use makeup to hide the affected area and match the color of the skin of the affected area to that of the body.[3]

With regard to the overall outlook, Piebaldism is not a condition that poses a health risk to people even though the risk for sunburn and even skin cancer is high in such people. However, a person with this condition may become more self-conscious and may even have psychological issues.[3]

A study done on the psychological aspect of Piebaldism on people mentions that almost 50% of the participants in the study felt self-conscious. Others felt they were not attractive due to Piebaldism and felt that the condition significantly impacted their lives.[3]

In conclusion, Piebaldism is a genetic condition in which certain gene mutations cause lack of production of melanocytes. This leads to patches of white skin and hairs. The classic presenting symptom of Piebaldism is presence of white hair on the hairline which is present since the time of birth. The lack of pigmentation on the skin surface makes people with Piebaldism vulnerable to sunburns and skin cancer of those areas are exposed to direct sunlight for prolonged periods of time.[1,2,3]

There are a variety of treatments available for Piebaldism but the efficacy of them are variable. While Piebaldism is not a serious medical condition, it can make a person more self-conscious and may also have psychological effects on them. This can be addressed by speaking to psychiatrist or a dermatologist to find ways of overcoming the problems that people face with Piebaldism.[1,2,3]

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