HWS stands for Hay-Wells Syndrome. The Hay-Wells syndrome is an inherited disease that the TP63 gene is caused by a gene mutation. In addition to changes in the appearance of the skin, this disease mainly leads to malformations of the skin appendages and teeth. It is not possible to treat the disease itself, but it is possible to treat the corresponding symptoms.
What is Hay Wells Syndrome?
According to digopaul.com, Hay-Wells syndrome is a congenital disease. It is extremely rare, affecting less than one in a million patients. The disease is named after the first two physicians who wrote down the disease and its symptoms. The syndrome is characterized by a combination of three symptoms.
A glued lid cleft shortly after birth (ankyloblepharon), ectodermal effects and a cleft lip and palate (cheilognathopalatoschisis) (cleft) occur together. The synonymous abbreviation AEC syndrome is derived from these combined symptoms. The syndrome is listed under Q82.4 on the ICD scale. It is classified as a type of ectodermal dysplasia.
The cause of Hay-Wells syndrome is a gene mutation. The TP63 gene, which is located at locus 3q28, is affected. The inheritance of this hereditary disease is autosomal dominant. Both women and men can be affected by the syndrome.
The prerequisite is one parent who inherits this gene mutation. Only one case was recorded that speaks for a mosaic form of the syndrome, i.e. in which it can be assumed that neither parent has this gene mutation.
TP-63 stands for the tumor protein 63, which belongs to the long arm of chromosome 3. This gene mutation results in the development of keratinocytes that cannot interact with melanocytes. Accordingly, the protein exchange of the patient is significantly disturbed. The consequences are abnormalities in hair and nail growth and poor development of the teeth.
Symptoms, Ailments & Signs
The tissue that adjoins the outer cell layer is particularly affected by Hay-Wells syndrome. In particular, it includes hair, skin and nails. The most obvious signs are the glued lid cleft, the cleft lip and palate and the ectodermal effects.
The cleft eyelid is the symptom that distinguishes the disease from other symptoms affecting the skin. The eyelids are not closed, but grow together like strands. Irregular hair growth is due to inflammation of the scalp. The inflammation on the skin’s surface can cause itching or pain.
Due to their deformity, the nails are also more susceptible to nail diseases, which in turn can lead to pain. The dental apparatus of the affected patients shows an increased risk of tooth decay. However, Hay-Wells syndrome has the greatest influence on the patient’s psyche, since the accumulation of symptoms causes the appearance to deviate from many different beauty norms. This leads to decreased self-esteem.
diagnosis and course
Hay-Wells syndrome is primarily diagnosed by history taking. The following characteristics are crucial clues: the patient has wiry hair, little scalp hair and infections visible on the scalp; the patient has nail dystrophy; the patient sweats little or not at all.
It is possible for the eyelid to be glued together after birth; the patient has fewer teeth than usual; maxillary hypoplasia and cleft lip and palate. The interaction of different symptoms is important. The eczema caused by Hay-Wells syndrome can also be caused by other syndromes. Due to the rarity of this hereditary disease, however, a diagnosis is difficult.
While the symptoms occur together in almost all patients, the course of the disease differs from patient to patient in terms of the severity of the characteristics. The characteristic triad, i.e. the three main symptoms, already occurs in infancy. With increasing age, the formation of the skin appendages is disturbed.
There is no peak of the disease or an automatic decline in the severity of the disease. The symptoms must be treated in order for the general condition to improve. Hay-Wells syndrome mainly affects external, aesthetic features. The quality of life is therefore not particularly limited in independence and by pain. The curtailment of the quality of life occurs primarily on the psychological level, since self-esteem can be strong and the hereditary disease can suffer.
Hay-Wells syndrome causes the patient to suffer from various malformations and deformities on the body. The skin is particularly affected by the syndrome and there are still problems with the teeth. A so-called cleft palate occurs, which leads to a greatly reduced aesthetics of the patient.
However, the hair and nails can also be affected by Hay-Wells syndrome and show malformations. It is not uncommon for the scalp to become inflamed and therefore painful. Itching can also spread to the scalp and reduce the patient’s quality of life. Malformations of the teeth also lead to pain in the mouth.
These can occur especially when eating and drinking and thus lead to malnutrition. The patient’s risk of tooth decay is also increased. In most cases, the malformations also lead to inferiority complexes and reduced self-esteem in the patient.
Hay-Wells syndrome cannot be treated causally. However, most malformations can be surgically removed.
Possible psychological complaints are also treated without complications. It is not uncommon for the patient’s immune system to be weakened, so that inflammation and infections occur more often, but these can also be treated well. Life expectancy is not reduced by the syndrome.
When should you go to the doctor?
Since Hay-Wells syndrome does not heal itself and in most cases the symptoms worsen, examination and treatment by a doctor is necessary in any case. This can prevent further complications. A doctor should be consulted if the person concerned suffers from severe skin problems without any particular reason. The hair or nails can also be affected by the symptoms.
Sticky eyelids or a cleft palate also indicate Hay-Wells syndrome. In many cases, the syndrome also leads to very irregular hair growth and further inflammation on the skin. Various malformations occur on the nails, which can have a negative effect on the aesthetics of the person concerned.
Hay-Wells syndrome can be diagnosed by a pediatrician or by a general practitioner. However, different specialists are required for the treatment. Since it is a genetic disease, only symptomatic treatment is possible. Furthermore, a psychologist should always be consulted in the case of psychological complaints or depression.
Treatment & Therapy
Dermatitis on the scalp is extremely difficult to treat, but the other changes in the skin’s appearance can be treated dermatologically, depending on the severity. It is possible that the glued eyelids will correct themselves on rare occasions, otherwise they will need surgery. The cleft lip and palate can only be corrected surgically together with other optical defects caused by the syndrome.
In addition, the various malformations of the skin appendages and teeth can be treated by the appropriate specialists. The doctor in charge decides in which framework this treatment takes place. Because Hay-Wells syndrome itself is caused by a gene mutation, it is irreversible. Genetic disorders cannot be easily cured like infections or broken bones.
Accordingly, there is no therapy for the causal disease. It is only possible to treat the respective symptoms that occur. The chances of success of a therapy with regard to the syndrome are therefore zero. But since almost all symptoms can be treated surgically or with medication, at least treating them is advisable. In addition to treating the symptoms, psychological support for those affected and their relatives is also recommended.
Outlook & Forecast
Since Hay-Wells syndrome is a very rare disease, something can be said about the symptoms and external manifestations. However, a general long-term prognosis is not yet possible. To date, 50 cases of this disease have been described. It is probably an autosomal dominant gene mutation that usually occurs sporadically. Furthermore, it is assumed that the prevalence is around 1:1,000,000. Life expectancy does not appear to be limited.
Typical features are adhesions and adhesions of the lid fissures, a cleft lip and palate and other ectodermal defects. The other ectodermal defects are characterized by nail malformations, missing urethral closure, enormously reduced perspiration, malformation of teeth and chronic inflammation of the scalp. Hair growth is sparse and wiry. In very rare cases, air sacs in the lungs can also grow together. These variable symptoms make it very difficult to make a general prognosis for the course of the disease.
Hay-Wells syndrome cannot be cured because it is genetic. However, symptomatic treatment is possible. The cleft lip and palate is surgically correctable. Canthoplasty can also be used to adjust the eyelids. These cosmetic measures can improve the quality of life of the affected patients. At the same time, psychological counseling is also recommended to counteract any potential threat of social exclusion.
Since Hay-Wells syndrome is an inherited gene mutation, preventive measures are not possible. Only early tests by the parents and prenatal examinations can provide information as to whether the unborn child is at risk of developing Hay-Wells syndrome.
Since Hay-Wells syndrome is an inherited disease, those affected have few, if any, follow-up care options. The disease cannot be completely cured, so that the patient is primarily dependent on early detection of the symptoms so that there are no complications later in life.
If you want to have children, genetic counseling can prove useful to prevent the recurrence of Hay-Wells syndrome in the children. As a rule, the syndrome does not negatively affect the life expectancy of the patient. The symptoms are usually corrected by surgery. There are no particular complications and the symptoms are usually completely alleviated.
After such an operation, those affected should rest and protect their bodies. Since Hay-Wells syndrome can also lead to psychological upsets or even depression, loving conversations with one’s own family or parents are often very useful. This should be done especially with children. The further course itself depends very much on the exact type and severity of the symptoms, so that no general prediction can be made.
You can do that yourself
There is no way to prevent Hay-Wells syndrome. However, when the syndrome occurs, the parents can change to genetic counseling and thus weigh up the risk of the syndrome occurring in the child. The possibilities for self-help are usually very limited, so that those affected are primarily dependent on medical treatment.
Due to the many malformations, patients are dependent on intensive and sensitive care. The care of relatives or parents has a very positive effect on the course of the disease. The nurses need a lot of rest and patience.
Some deformities can be corrected. The correction is particularly recommended if it can alleviate aesthetic problems. In the case of mental upsets or depression, talking to other people with Hay-Wells syndrome can help. Conversations with the parents or with the partner can also alleviate possible inferiority complexes. Psychological treatment is often also suitable for parents and relatives, as they can also suffer from psychological problems.
Due to the weakened immune system of the patient, adequate hygiene must be ensured. This can prevent infections and inflammation.