Piebaldism is a genetic condition in which patients already have a white strand of hair and/or a white spot on the skin at birth . Due to the change in a gene, melanocytes (cells that ensure eye, skin and hair color) are absent in certain areas. The benign, non-contagious condition occurs in isolation but also in combination with other medical conditions. Besides the skin and hair abnormalities, no other symptoms occur, but the disease may have a major psychological and social impact on the patient’s life. Therefore, some (combinations of) treatments are possible to reduce the symptoms, although the results are variable.
- Synonyms of piebaldism
- Causes: Hereditary, congenital condition
- Symptoms of hair and skin
- Diagnosis and examinations
- Treatment of white spots on skin and white hair strand
- Darkening of the skin
- Protect from the sun
- Prognosis of genetic disease
- Complications: Psychological and social problems
Synonyms of piebaldism
Albinismus partialis and congenital white spots are useful synonyms for piebaldism.
Causes: Hereditary, congenital condition
Genetic mutation The condition is usually the result of a mutation (change) in certain genes, for example KIT or SNAI2 genes. As a result, a patient lacks melanocytes (pigment cells = responsible for the skin color). This causes white spots to appear on the skin or hair at birth, putting patients at greater risk of sunburn (red, painful skin due to exposure to the harmful UV rays of sunlight) and skin cancer. Fifty percent of patients with the autosomal dominant disorder pass the disease on to their offspring.Associated with other diseases Piebaldism also occurs in association with some other medical conditions, such as Waardenburg syndrome. This condition affects hearing in combination with color abnormalities in the hair, skin and eyes.
Symptoms of hair and skin
Hair In almost ninety percent of patients with the congenital condition, a white patch of hair is the only symptom. This then appears at the hairline near the forehead. This white lock of hair (poliosis circumscripta) is shaped like a triangle, diamond or a long strip, although the size and shape are variable. Sometimes other parts of the body are also affected by piebaldism, such as:
- the front or side of the abdomen and chest
- the eyebrows
- the eyelashes
- the center of the arms
- the middle of the legs
- the forehead
Skin Sharply defined white spots/spots develop on the skin (especially the trunk, limbs and face) that are variable in shape and size (usually from one to six centimeters in size). The hands and feet are usually spared. Usually, the white spots on the skin appear symmetrically on both sides of the body. This pigmented skin has a narrow edge of hyperpigmentation (darkened skin color). Within the white spots, one or more islands of normal skin color or darker spots can also be seen.
Diagnosis and examinations
Physical and diagnostic examination The doctor asks the patient about the symptoms present and whether there is already a family history of the condition. This information, in combination with a physical examination of the skin and hair, usually provides a good indication of the presence of the disease. The doctor may take a skin biopsy, which reveals the absence of the melanocytes. A genetic test detects the correct gene mutation, allowing the doctor to confirm the diagnosis of piebaldism.Differential diagnosis An eye examination, hearing examination and neurological examination are also indicated. The doctor sometimes confuses Piebaldism with other conditions that cause white patches on the hair and skin, and are often accompanied by neurological problems and/or ear and ear problems, such as:
- rasmboesia (bacterial infection with skin problems)
- Alezzandrini syndrome (hearing loss, changes in hair and skin color, and changes in eye color)
- skin complications of albinism (abnormalities of eyes, skin and hair)
- skin complications of Addison’s disease (insufficient production of hormones)
- skin complications of Waardenburg syndrome (disease with hearing, skin, hair and eye abnormalities)
- skin complications of leprosy (infection with nerve damage and symptoms of eyes and skin)
- poliosis circumscripta (white hair skin condition)
- systemic sclerosis (disorder with symptoms affecting the skin and organs)
- tinea versicolor (skin infection with scaly patches)
- vitiligo (autoimmune disease with progressive and worsening pigment changes in the skin, hair, eyes, mucous membranes and inner ear)
- Vogt-Koyanagi-Harada disease (disorder with symptoms affecting the eyes and skin)
Treatment of white spots on skin and white hair strand
Darkening of the skin
The treatment of piebaldism is often a challenge for the doctor and it is also possible that not every treatment works equally well for every patient. That is why the doctor sometimes has to carry out several treatment options to achieve a good result. Possible treatments include:
- Camouflage : Some patients use makeup to match surrounding skin tones and camouflage the affected area. Dyeing the hair is also possible.
- Dermabrasion : The doctor removes the outer layer of skin from the patient
- Phototherapy : After treatment with dermabrasion or a cell transplant, the doctor often uses phototherapy (treatment using light) to accelerate pigment development.
- skin graft : The doctor attaches a piece of skin with pigment to an area of skin with too little pigment.
- laser : A YAG laser can be used for darkening the skin.
- melanocyte and keratinocyte transplant : The doctor transplants pigment cells to the affected area so that they produce a color on the skin area that contains too little pigment.
Protecting yourself from the sun is necessary / Source: Dimitrisvetsikas1969, Pixabay
Protect from the sun
Furthermore, patients should take sunscreen and other protective measures to prevent skin damage from sunlight, as they are more likely to get sunburned.
Prognosis of genetic disease
Piebaldism is a stable disease, so the abnormalities in the hair and skin do not increase in size or number. The condition does not cause any medical problems, but the risk of sunburn and skin cancer is increased. There are several treatments for the condition, but results are usually variable.
Complications: Psychological and social problems
Because the skin is affected, a number of patients feel ashamed and social and psychological problems may arise. The skin condition therefore affects the quality of life in some patients. Psychological help and/or contact with fellow sufferers are therefore sometimes very useful.