Hay-Wells syndrome is a hereditary disease caused by a gene mutation of the TP63 gene. In addition to changes in the appearance of the skin, this disease primarily causes maldevelopment of the skin appendages and teeth. Treatment of the disease itself is not possible, but therapy of the corresponding symptoms is.
What is Hay-Wells syndrome?
Hay-Wells syndrome is a congenital disorder. It occurs extremely rarely and in fewer than one in a million patients. The condition is named after the first two medical professionals to write up the disease and its symptomatology. The syndrome is characterized by a combination of three symptoms. Thus, a stuck palpebral fissure shortly after birth (ankyloblepharon), ectodermal effects and cleft lip and palate (cheilognathopalatoschisis) (Cleft) occur together. The synonymous acronym AEC syndrome is derived from these combined symptoms. On the ICD scale, the syndrome is listed as Q82.4. It is classified as a type of ectodermal dysplasia.
Causes
The cause of Hay-Wells syndrome is a gene mutation. The TP63 gene, located at gene locus 3q28, is affected. Inheritance of this inherited disorder is autosomal dominant. Both women and men can be affected by the syndrome. A prerequisite is a parent who inherits this gene mutation. Only one case has been recorded that is indicative of 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 tumor protein 63, which belongs to the long arm of chromosome 3. This gene mutation causes keratinocytes to develop that cannot interact with melanocytes. Accordingly, the patient’s protein exchange is significantly disturbed. As a result, there are abnormalities in hair and nail growth and poor development of teeth.
Symptoms, complaints, and signs
The tissues affected by Hay-Wells syndrome are mainly those adjacent to the outer cell layer. In particular, it includes hair, skin and nails. The most obvious signs are the agglutinated palpebral fissure, the cleft lip and palate, and the ectodermal effects. The palpebral fissure is the symptom that differentiates the disease from other symptoms affecting the skin. Although the eyelids are not closed, they are fused together like strands. The irregular hair growth is due to inflammation of the scalp. The inflammations on the skin surface may involve itching or pain. The nails are also more susceptible to nail diseases due to their malformation, which in turn can lead to pain. The dental system of affected patients has an increased risk of tooth decay. However, Hay-Wells syndrome has the greatest impact on the patients’ psyche, as the accumulation of symptoms causes their appearance to deviate from many different beauty standards. This leads to decreased self-esteem.
Diagnosis and course
Hay-Wells syndrome is diagnosed primarily by taking a medical history. The following features are crucial clues: The patient has wiry hair, little scalp hair, and infections evident on the scalp; the patient has nail dystrophy; the patient sweats little or not at all. It is possible that the eyelid is stuck after birth; the patient has fewer teeth than usual; hypoplasia in the upper jaw and cleft lip and palate. The interaction of different symptoms is important. The eczema caused by Hay-Wells syndrome may also be caused by other syndromes. However, due to the rarity of this inherited disorder, diagnosis is difficult. While the symptoms are common to almost all patients, the course of the disease differs from patient to patient in terms of the severity of the features. Already in infancy the characteristic triad appears, i.e. the three main symptoms. With increasing age, the disturbed formation of the skin appendages occurs. There is no peak of the disease and no automatic decrease in the severity of the disease. The symptoms must be treated to improve the general condition. Hay-Wells syndrome mainly affects external, aesthetic features. Thus, the quality of life is not particularly limited in independence and by pain.The curtailment of quality of life occurs primarily at the psychological level, as self-esteem can suffer greatly and the hereditary disease.
Complications
Due to Hay-Wells syndrome, the patient suffers from various malformations and deformities on the body. Mainly the skin is affected by the syndrome and there is further discomfort of the teeth. A so-called cleft palate occurs, which leads to a greatly reduced aesthetic appearance of the patient. However, the hair and nails can also be affected by Hay-Wells syndrome and show malformations. On the scalp, it is not uncommon for inflammation to occur, resulting in pain. Itching can also spread to the scalp and limit the patient’s quality of life. The malformations of the teeth also lead to pain in the oral cavity. These can occur especially during eating and drinking and thus lead to malnutrition. Likewise, the risk of dental caries is increased in the patient. In most cases, the malformations also result in inferiority complexes and lowered self-esteem in the patient. Hay-Wells syndrome cannot be treated causally. However, most of the malformations can be surgically removed. Possible psychological complaints are also treated without complications. Not infrequently, the immune system of the patients is weakened, so that inflammations and infections occur more often, but these can also be treated well. Life expectancy is not reduced by the syndrome.
When should you see a doctor?
Since Hay-Wells syndrome does not heal itself and, in most cases, worsens the symptoms, examination and treatment by a doctor is necessary in every case. Further complications can be avoided in this way. A doctor should be consulted if the affected person suffers from severe skin complaints without any particular reason. The hair or nails can also be affected by the symptoms. Furthermore, stuck eyelids or a cleft palate also indicate Hay-Wells syndrome. In many cases the syndrome also leads to a very irregular hair growth and further to inflammations on the skin. Various deformities occur on the nails, which can have a negative effect on the aesthetics of the affected person. Hay-Wells syndrome can be diagnosed by a pediatrician or a general practitioner. However, different specialists are needed for treatment. Since it is a genetic disorder, only symptomatic treatment is possible. Furthermore, a psychologist should always be consulted in case of psychological complaints or depression.
Treatment and therapy
Dermatitis on the scalp is extremely difficult to treat, but the other changes in the skin appearance can be treated dermatologically, depending on their severity. It is possible for the stuck eyelids to correct themselves in rare cases; otherwise, they require surgery. The cleft lip and palate, together with other optical defects caused by the syndrome, can only be corrected surgically. In addition, the various malformations of the skin appendages as well as teeth can be treated by appropriate specialists. In which context this treatment takes place is decided by the responsible specialist. Since Hay-Wells syndrome itself is caused by a gene mutation, it is irreversible. Genetic disorders cannot be simply cured like infections or bone fractures. Accordingly, a therapy for the causative disease does not exist. Only the treatment of the respective occurring symptoms is possible. The chances of success of a therapy are therefore zero with regard to the syndrome. But since almost all symptoms can be treated surgically or with medication, at least a treatment of these is advisable. In addition to treatment of the symptoms, psychological support for affected persons and their relatives is also recommended.
Outlook and prognosis
Because Hay-Wells syndrome is a very rare disorder, 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 disorder have been described. It is probably an autosomal dominant gene mutation that usually occurs sporadically. Furthermore, the prevalence is thought to be about 1:1,000,000. Life expectancy does not appear to be limited.Typical features include an adhesion of the palpebral fissures, a cleft lip and palate, and other ectodermal defects. The other ectodermal defects are characterized by nail malformations, lack of urethral closure, enormously reduced sweating, malformation of teeth, and chronic inflammation of the scalp, among others. Hair growth is sparse and wiry. In very rare cases, alveoli may also be fused together. This variable symptomatology makes it very difficult to establish 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 can be surgically corrected. By means of canthoplasty, it is also possible 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 a possible threat of social exclusion.
Prevention
Because Hay-Wells syndrome is an inherited gene mutation, measures for prevention are not possible. Only early testing of parents and prenatal examinations can provide information about whether the unborn child is at risk of developing Hay-Wells syndrome.
Follow-up
Because Hay-Wells syndrome is a hereditary disease, there are few, and sometimes no, aftercare measures available to the affected person. The disease can therefore also not be completely cured, so that the patient is primarily dependent on early detection of the symptoms, so that there are no complications in the further life. If the patient wishes to have children, genetic counseling may be 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 surgical intervention. There are no particular complications and the symptoms are usually completely relieved. After such an operation, patients should rest and take care of their body. 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. These should be carried out especially with children. The further course itself depends thereby very strongly on the exact kind and the expression of the complaints, so that thereby no general prediction can take place.
What you can do yourself
There is no possibility of prevention in Hay-Wells syndrome. However, parents can seek genetic counseling when the syndrome occurs and thus weigh the risk over the occurrence of the syndrome in the child. The possibilities for self-help are also usually severely 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 caregivers need a lot of calm and patience. Some deformities can be corrected. Correction is especially recommended if it can alleviate aesthetic discomfort. In case of psychological upsets or depression, conversations with other Hay-Wells syndrome sufferers can help. Talks with parents or with the partner can also alleviate possible inferiority complexes. Often, psychological treatment is also suitable for parents and relatives, as they may also suffer from psychological symptoms. Due to the patient’s weakened immune system, care must be taken to maintain adequate hygiene. This can prevent infections and inflammations.
