Piebaldism is a form of albinism caused by a mutation. The white forelock of those affected is characteristic. Because of their depigmentation, patients are more susceptible to melanoma from UV light and should avoid excessive sun exposure.
What is piebaldism?
Albinism corresponds to a group of hereditary diseases that manifest themselves in the form of an extreme deficiency of the pigment melanin. Melanin is formed by the melanocytes in the skin, iris and hair. The pigment is responsible for the color of skin, eyes and hair, although in humans it is composed of parts from two different subtypes. See dictionaryforall for Club Hand in Dictionary.
In addition to the yellowish pheomelanin, 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. The melanin formation of the melanocytes is disturbed in albinos, for example due to mutation-related defects in the enzyme tyrosinase required for this.
Piebaldism is also called albinism partialis or partial albinism and represents a subtype of albinism that is mainly characterized by white patches on the face, neck area, front of the upper body and flanks. The disease is one of the rare hereditary diseases and can occur in different variants. Waardenburg syndrome and Wolf syndrome, for example, are now being 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, the disorder is based on depigmentation due to an embryonic melanoblast differentiation disorder. The melanocytes of those affected have not migrated sufficiently.
A mutation-related defect in the gene that codes for the melanocytic tyrosine kinase receptor is responsible for the insufficient migration. The disease is therefore based on mutations in the receptor-expressing c-KIT gene, which is located on the long arm of chromosome 4 in locus 4q12. Due to the gene defect, the embryonic melanoblast differentiation is disturbed.
In addition, melanocyte migration out of the neural crest is impeded. Waardenburg syndrome and Wolf syndrome are different variants of the phenomenon, with Waardenburg syndrome also being associated with sensorineural hearing loss and Wolf syndrome being associated with malformations, short stature and developmental delays on a mental and physical level.
In Wolf syndrome, the cause corresponds to a structural chromosomal aberration on the short arm of chromosome 4, while Waardenburg syndrome can be due to various mutations.
Symptoms, Ailments & Signs
In most cases, patients with piebaldism develop a typically white forelock. This symptom of poliosis is present in around 90 percent of all cases. In addition, there is a circumscribed hypopigmentation of the skin, which is also known as leukoderma. In the individual depigmentations, patches of hyperpigmentation of the skin are present in many cases.
That is, within the non-pigmented areas are defined patches of excess pigment. The shape of the white forelock is particularly characteristic: this is a hair heterochromia, i.e. a different color of the hair. In most cases, the tip of the forelock points downwards. Depending on the causative mutation and thus the variant of piebaldism, the symptoms described can be associated with other symptoms.
In the Waardenburg syndrome, in addition to the sensorineural hearing loss, different colored eyes are also part of the clinical picture. Usually, one eye of the patient appears significantly lighter than the other, which is attributed to depigmentation. Wolf syndrome, on the other hand, is associated with short stature and facial deformities.
Diagnosis & course of disease
To diagnose piebaldism, the doctor takes a closer look at the patches of skin. The depigmentations are sharply or vaguely defined spots in the area of the trunk, forehead and often the extremities, which contain small over-pigmented spots.
These observations, along with depigmentation of the scalp hair, eyebrows, and iris, support the diagnosis. The diagnosis is usually visual. In case of doubt, molecular genetic evidence of mutations can be used to rule out other diseases in the differential diagnosis.
Complications
Piebaldism does not usually cause serious complications. However, those affected suffer from cosmetic changes, which can have a negative effect on the psyche, especially in the case of a severe course of the disease. If piebaldism remains untreated, the skin changes increase and sometimes spread to the entire face.
This is not only an optical flaw, 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. Other complaints stem from possible concomitant diseases. As a result of Waardenburg syndrome, sensorineural hearing loss and different colored eyes can occur. Short stature and facial deformities are associated with Wolf syndrome.
Since the disease is genetic, these complications and possible secondary diseases can hardly be avoided. Those affected therefore feel, above all, mental suffering, which can lead to long-term mental illnesses. This can result in physical discomfort and a noticeable decrease in quality of life. However, early diagnosis of piebaldism allows at least symptomatic therapy.
When should you go to the doctor?
Piebaldism is not a mandatory reason for a doctor’s visit, as long as it is limited to the characteristic patch of white 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 therapy options. On the other hand, medical control is important in variants of piebaldism, von Waardenburg syndrome and Wolf syndrome. Although these are very rare, just like piebaldism, they 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 early. As soon as piebaldism is detected in the child, the pediatrician should be consulted to be on the safe side to clarify whether it is really just a harmless phenomenon of piebaldism or a variation with possible health effects.
Especially in school days, cases of piebaldism can lead to bullying, depending on how large and conspicuous the patch of white hair is. Although the doctor cannot change the visual appearance of piebaldism, they can advise parents and affected children on what they can do to conceal it.
Treatment & Therapy
Piebaldism cannot be treated causally. All forms are based on mutations that cannot be reversed. To a certain extent, a symptomatic treatment of the individual symptoms can take place. In most cases, symptomatic treatment consists simply of sun protection and cosmetic measures.
Different colored eyes can be matched with colored contact lenses, for example. Especially in its dark brown colour, melanin in the skin takes on the role of a UV filter. The dark dye converts harmful UV light into thermal radiation, rendering it harmless. 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 one wants to consider Waardenburg and Wolf syndrome as forms of piebaldism, more comprehensive therapy is indicated for these two variants.
However, this focuses less on the depigmentation than on the symptoms of sensorineural hearing loss and the malformations. The malformations of Wolf syndrome in particular can be surgically corrected in many cases.
Outlook & Forecast
As a rule, piebaldism cannot be completely cured because it is a genetic disease. In some cases, only the symptoms of the disease can be alleviated, although the person concerned has to live with the symptoms throughout their lives. Even self-healing cannot occur. In order to prevent a recurrence of piebaldism in the children, a genetic examination and counseling should be carried out first if you wish to have children. Since those affected by the disease also have an increased risk of developing skin cancer, regular checks and examinations by a dermatologist are necessary. This is the only way to prevent the tumor from spreading further.
The treatment itself can alleviate some of the symptoms, although the affected person must always apply sunscreen and avoid direct sun exposure at all times. With the help of various care products, the symptoms of incorrect pigmentation can also be alleviated. Surgical interventions can also alleviate these symptoms. In most cases, piebaldism does not reduce the life expectancy of the sufferer, especially if regular skin examinations are attended.
Prevention
Since piebaldism is based on a hereditary mutation, there are hardly any preventive measures available. After genetic counseling in the family planning phase, sick people can at most decide not to have children. However, since piebaldism is not an overly serious condition, such a decision seems almost too radical. At most in the case of the variant of Wolf syndrome, the decision would still be understandable.
Aftercare
In most cases, patients with piebaldism only have a few direct follow-up measures available. The disease itself does not have to be treated completely, and in most cases a complete cure is not even possible. In general, those affected by piebaldism should protect their skin particularly well against the sun and therefore ideally not expose themselves to UV radiation without protection.
Sunscreen should always be worn when outdoors to prevent sunburn. Regular checks and examinations by a dermatologist are also very important for piebaldism in order to identify and treat damage to the skin at an early stage. Even with the smallest changes on the skin, a doctor should be contacted so that a possible tumor can be recognized and removed at an early stage.
Some of the symptoms of piebaldism can be alleviated with the help of minor interventions. The affected person should take special care of their skin and take care of it. Various creams and ointments may be prescribed by a doctor to be used on a regular basis. It cannot be universally predicted whether piebaldism will result in a reduced life expectancy for those affected.
You can do that yourself
Piebaldism does not necessarily need to be treated. It is a purely visual flaw that does not cause any physical or psychological problems. In individual cases, however, the gray coloring of the hair can lead to inferiority complexes and other psychological problems.
People who feel very troubled by partial albinism should first talk to a therapist. It is possible to dye the hair or wear appropriate headgear to hide the silver lock. In addition, the discoloration can be reduced by certain care products. A balanced diet slows the progression of the disease by compensating for the causal hypopigmentation of the skin. A diet that contains as many foods as possible with natural colorings is recommended for this purpose. Carrots and tomato juice, among others, have proven themselves.
If the piebaldism gets worse despite the above measures, the family doctor should be consulted. In isolated cases, the development of a white forelock is due to a serious medical condition that needs to be diagnosed and treated. Finally, sufferers should accept the suffering by talking to other sufferers or having a therapy session. The forelock is no longer visible when hair dye is used and no other symptoms are to be expected.