You must have seen some people with white patches on their body. Have you ever wondered what this could be and how these white patches are caused? These white patches could be a symptom of Piebaldism which is a genetic disorder. Let us try to know more about Piebaldism, why it is caused, its symptoms, ways to diagnose and its treatment procedures.
Now, let us get into the article.
What is Piebaldism?
This is a very rare genetic disorder in which white patch is seen on the skin or the hairs. This disorder is present right from the birth of the child. In this disorder, certain cells which are responsible for eyes, hair, skin color are missing and these cells are known as melanocytes. Sometimes people may have this unpigmented skin in the eyebrows or even eyelashes hairs.
Causes of Piebaldism
The main cause of Piebaldism is the genetic mutation due to which melanin is affected. Piebaldism is an autosomal genetic mutation which shows that there are high chances of this disease to pass to next generation. This genetic mutation in some of the people is found in the KIT and SNAI2 genes.
The KIT gene is basically responsible to make certain cells which include melanocytes by sending the body signal. When the mutation occurs in the KIT gene then the melanocytes cells which are responsible for pigmentation they get altered. Due to this lack of pigmentation occur in some of the skin or hair area of the body.
When SNAI2 gene has any mutation then a protein called snail 2 is affected in a negative way. This Snail 2 is also responsible for cell development and also including the melanocytes development. Any mutation in it can lead to white pigmentation or white patches on the body such as arms, legs, chest, eyebrows, eyelids.
Piebaldism symptoms may also be seen in some other medical conditions such as Waardenburg syndrome. This Waardenburg syndrome directly affects the person’s hearing by affecting eardrum and also affect the pigmentation of the hair, skin, and eyes which can be noted easily.
Symptoms of Piebaldism
Piebaldism is characterized by some common symptoms are as following:
- Eyebrow and eyelashes are white in color
- The person usually has white hairs in the front near the forehead
- Depigmented patches on the body
- White patches appear on the chin and trunk area
- White patches can also be seen at arms and legs
Diagnosis of Piebaldism
This genetic disorder Piebaldism is often associated to be partial albinism or vitiligo. But, the three diseases differ from each other completely which doctors can clearly diagnose. In the case of albinism, the cells completely lack the ability to produce pigment while in the case of vitiligo the melanocytes are completely destroyed.
In Piebaldism there is no lack of ness or destruction of melanocytes instead it consists of distinct patches of skin and hair which contain no pigmentation. Also, in this condition patients who has this disorder are diagnosed with the deafness. In several a varying degree of deafness is reported with the people having white forelock and patches of leukoderma.
To diagnose the Piebaldism the doctors or some health experts perform the biopsies of skin. This procedure helps to demonstrate that the patient is completely lacking the melanin pigment and also melanocytes. The melanocyte produces the pigment melanin which is required for skin and hair color and without them, the area will be depigmented.
Treatment of Piebaldism
Some treatments of Piebaldism are present but still, there is no guarantee that the disease will be cured and the result will be 100 percent. Those treatments are as following:
It is the procedure in which doctors use a wire brush with rough edges for the purpose of removing the upper layers of the skin. The brush is rubbed with speed to take off the top layer of skin. Due to this scraping of the top layer skin get wound and bleed and when this wounded skin starts healing it gives rise to new cells. These new cells replace the damaged cells and new skin occur without white patches.
Melanocyte transplant is a surgical technique shaving off the top layer of skin is done and in that mainly the melanocytes and keratinocytes. This procedure is done under the anesthesia and then culture is prepared in the laboratory. When the cultured cell is grown then the cells are applied to the skin which is shaved. The success rate for this treatment is about 95%.
This is the procedure where skin containing pigment is attached to the depigmented area. Basically, this involves transplantation of skin which is also known as the skin graft. This is usually done when the body’s skin is very much damaged. This skin grafting may be classified and varied according to the source of skin.
This grafting includes not just the skin but the skin and the underlying tissue. With this transplant, the risk is also present when exposed to the sun. Also, those who suffer from Piebaldism are at higher risk for other diseases when this method is used. They are at higher risk of skin cancer or cutaneous malignancy. For the protection from this sunscreen, brimmed hat, long sleeves shirt and pants can be used.
Piebaldism is a genetic disorder and is rare to occur. Although the disease is rare to occur it needs treatment else the white patches will be present the whole lifetime starts from birth. Here in this article, we provided you complete detail regarding the Piebaldism which will help you to know this disease more. For the treatment of this disease, visiting doctor is highly recommended as there is no prevention of this disease.