Piebaldism is a form of albinism caused by a mutation. The white forelock of affected individuals is characteristic. Because of their depigmentation, patients are more susceptible to black skin cancer caused by UV light and should avoid excessive sun exposure.
What is piebaldism?
Albinism corresponds to a group of hereditary disorders that manifest as an extreme deficiency of the pigment melanin. Melanin is produced by melanocytes in the skin, iris, and hair. The pigment is responsible for the color of the skin, eyes and hair, and in humans it is composed of portions of two different subspecies. In addition to the yellowish phaeomelanin, the dark brown eumelanin is a variant of melanin. The individual eye, hair and skin color results from the respective proportions of the two melanin variants. In albinos, the melanin formation of the melanocytes is disturbed, for example by mutation-related defects of the enzyme tyrosinase required for this. Piebaldism is also called albinism partialis or partial albinism and is a subtype of albinism, which is mainly characterized by white patches on the face, neck, front of the upper body and flanks. The disease is one of the rare hereditary disorders and can occur in different variants. Waardenburg syndrome and Wolf syndrome, for example, are now discussed as variants of the disease.
Causes
Piebaldism is inherited in an autosomal dominant manner. Familial clustering has been observed in the cases documented to date. Apparently, depigmentation due to an embryonic melanoblast differentiation disorder underlies the disorder. The melanocytes of the affected individuals have not migrated sufficiently. Responsible for the insufficient migration is a mutation-related defect of the gene coding for the melanocytic tyrosine kinase receptor. Thus, mutations in the receptor-expressing c-KIT gene, located on the long arm of chromosome 4 in locus 4q12, underlie the disease. Due to the gene defect, embryonic melanoblast differentiation is impaired. In addition, melanocyte migration out of the neural crest is impaired. Waardenburg syndrome and Wolf syndrome are different variants of the phenomenon, with Waardenburg syndrome additionally associated with sensorineural hearing loss and Wolf syndrome additionally associated with malformations, short stature, and developmental delays at the mental and physical levels. In Wolf syndrome, the cause corresponds to a structural chromosomal aberration on the short arm of chromosome 4, whereas Waardenburg syndrome may be due to various mutations.
Symptoms, complaints, and signs
Patients with piebaldism typically develop a white forelock in most cases. This symptom of poliosis is present in approximately 90 percent of all cases. In addition, circumscribed hypopigmentation of the skin, also known as leukoderma, develops. Within the individual depigmentations, hyperpigmentations of the skin are present in many cases in the form of patches. That is, within the pigmentless areas there are demarcated patches with excessive pigment. Characteristic is especially the shape of the white forelock: this is a hair heterochromia, i.e. a different coloration of the hairs. The tip of the forelock points downward in most cases. Depending on the causative mutation and thus the variant of Piebaldism, the described symptoms may be associated with other symptoms. In Waardenburg syndrome, the clinical picture includes not only sensorineural hearing loss but also eyes of different colors. As a rule, one eye of the patient appears significantly brighter than the other, which is due to depigmentation. Wolf syndrome, on the other hand, is associated with short stature and malformations in the facial region.
Diagnosis and course of the disease
To diagnose Piebaldism, the physician primarily looks more closely at the skin patches. Depigmentations are sharply or indistinctly demarcated patches on the trunk, forehead, and often extremities that have small areas of hyperpigmented patches within them. Together with depigmentation of the hair on the head, eyebrows and iris, these observations support the diagnosis. Thus, the diagnosis is usually made visually.In case of doubt, molecular genetic mutation detection can be used for differential diagnosis to exclude other diseases.
Complications
Piebaldism does not usually cause severe complications. However, affected individuals suffer from cosmetic changes that can have a negative impact on the psyche, especially if the disease is severe. If Piebaldism remains untreated, the skin changes increase and sometimes spread to the entire face. This is not only a visual blemish, but also increases the risk of skin diseases. Occasionally, infections or inflammations occur as a result, which in turn are associated with complications. The disease is also suspected of increasing the risk of skin cancer. Further complaints emanate from possible concomitant diseases. For example, Waardenburg syndrome may result in sensorineural hearing loss and different colored eyes. Short stature and facial malformations are associated with Wolf syndrome. Since the disease is genetic, these complications and possible sequelae can hardly be avoided. Therefore, the affected persons feel above all a psychological suffering pressure, which can cause psychological illnesses in the long term. This can result in physical complaints and a noticeable decrease in quality of life. However, early clarification of piebaldism at least allows symptomatic therapy.
When should you see a doctor?
Piebaldism is not necessarily reason to see a doctor, as long as it is limited to the characteristic white patch of hair on the head. The typical white forelock is noticeable, but it is harmless and can be colored if the affected person has an aesthetic problem with it. There is no causal treatment for piebaldism anyway, so the doctor cannot offer any therapeutic options. Medical control, on the other hand, is important for variants of Piebaldism, von Waardenburg syndrome and Wolf syndrome. These are very rare, just like Piebaldism, but are associated with disabilities and complications. Since these are also hereditary diseases, the first clinical symptoms are often noticeable soon after the birth of the child and the respective disease must be treated accordingly at an early stage. As soon as a child shows signs of Piebaldism, the pediatrician should be consulted to clarify whether it is really just a harmless manifestation of Piebaldism or a variation with possible effects on health. Particularly during school years, cases of Piebaldism can lead to bullying, depending on how large and noticeable the white patch of hair is. While physicians cannot change the visual appearance of piebaldism, they can advise parents and affected children on what they can do to conceal it.
Treatment and therapy
Piebaldism cannot be treated causally. All forms are based on mutations that cannot be reversed. For this, symptomatic treatment of the individual symptoms can take place to a certain extent. In most cases, symptomatic treatment simply consists of sun protection measures and cosmetic measures. Different colored eyes, for example, can be matched with colored contact lenses. Melanin takes over in the skin straight in its dark brown coloring the role of a UV filter. The dark pigment converts harmful UV light into heat radiation and makes it harmless in this way. People with piebaldism should therefore avoid strong UV exposure just like people with other forms of albinism. They are at higher risk of developing black skin cancer. The risk can be reduced by sun protection measures. If Waardenburg and Wolf syndromes are to be considered forms of piebaldism, a more comprehensive therapy is indicated for these two variants. However, this focuses less on the depigmentations and more on the symptoms of sensorineural hearing loss and malformations. The malformations of Wolf syndrome in particular can be surgically corrected in many cases.
Outlook and prognosis
As a rule, piebaldism cannot be completely cured again, since it is a genetic disease. In some cases, only the symptoms of the disease can be alleviated, but the affected person must live with the symptoms for the rest of his life. Self-cure is also not possible.In order to prevent a recurrence of Piebaldism in the children, a genetic examination and counseling should be performed first if the child is desired. Since those affected by the disease also suffer from an increased risk of developing skin cancer, regular checks and examinations by a dermatologist are necessary. This is the only way to prevent further spread of the tumor. The treatment itself can alleviate some of the symptoms, but those affected must always apply sunscreen and avoid exposure to direct sunlight at all costs. With the help of various skin care products, the discomfort of false pigmentation can also be alleviated. In this regard, surgical procedures may also be able to alleviate this discomfort. In most cases, pebaldism does not reduce the life expectancy of the affected person, if, above all, participate in regular skin examinations.
Prevention
Because piebaldism is based on a hereditary mutation, few preventive measures are available. Sufferers can, at most, decide not to have children of their own after undergoing genetic counseling during the family planning phase. However, since Piebaldism is not an overly serious disease, such a decision seems almost too radical. At most, in the variant of Wolf syndrome, the decision would still be understandable.
Follow-up
In most cases of piebaldism, patients have only a few measures of direct aftercare available to them. This does not require complete treatment of the disease itself, although a complete cure is not even possible in most cases. In general, those affected with piebaldism should protect their skin particularly well against the sun and should therefore ideally not expose themselves to UV radiation without protection. Sunscreen should always be applied when spending time outdoors to prevent sunburn. Likewise, regular checks and examinations by a dermatologist are very important in the case of Piebaldism in order to detect and treat damage to the skin at an early stage. Even the smallest changes on the skin should contact a doctor so that a possible tumor can be detected and removed at an early stage. Some of the symptoms of Piebaldism can be alleviated with the help of minor interventions. In this case, the affected person should take special care of his or her skin and take it easy. Various creams and ointments can be prescribed by a doctor, which should be applied regularly. Whether it comes by the Piebaldismus to a reduced life expectancy of the concerning, cannot be predicted thereby universally.
Here’s what you can do yourself
Piebaldism does not necessarily require treatment. It is a purely optical blemish that does not cause any physical or psychological complaints. However, in individual cases, the gray coloration of the hair can lead to inferiority complexes and other psychological problems. People who feel very burdened by albinism partialis should first talk to a therapist. It is possible to dye the hair or wear a suitable head covering to hide the silver curl. In addition, the discoloration can be reduced by using certain skin care products. A balanced diet slows down the progression of the disease by compensating for the causative hypopigmentation of the skin. A diet containing as many foods with natural colorants as possible is recommended for this purpose. Carrots and tomato juice, among others, have proven to be effective. If the piebaldism becomes stronger despite the above measures, the family doctor should be consulted. In individual cases, the development of a white forelock is due to a serious disease, which must be diagnosed and treated. Lastly, sufferers should accept the condition by talking to other sufferers or having a therapy session. The forelock is no longer visible when hair dye is applied and further symptoms are not expected.
