Multiple pterygium syndrome is present in patients with numerous folds of mucous membranes or skin similar to flight membranes. Several forms are distinguished. A causal therapy does not yet exist.
What is Multiple Pterygium Syndrome?
“Pterygium” literally means “wing skin”. This medical term refers to a physical anomaly that manifests itself through folds of skin and mucous membranes similar to flight membranes. Most often, the skin folds are on the side of the neck between the mastoid process and the highest part of the shoulder blade. See foodezine for Everything about Carcinoid (or Neuroendocrine Tumor).
Pterygium colli is also mentioned in this localization. The pterygium can be a symptom of a higher-level clinical picture. This is the case, for example, in the context of Ullrich-Turner syndrome. In multiple pterygium syndrome, multiple pterygia are present at the same time. This syndrome comes in different forms.
In addition to an autosomal recessive form, medicine knows a popliteal and an autosomal dominant form. In addition, there is a Frias type, a lethal type and an X-linked type of the syndrome. A multiple pterygium syndrome can thus be accompanied by fundamentally different symptoms and accordingly have a very different course.
The prevalence of each type differs. In essence, however, all types of the syndrome correspond to rather rare diseases, which affect around one in a million on average.
Multiple pterygium syndrome always has a genetic basis. This means that internal factors within the DNA are responsible for the transmission of the disease. Transmission also differs between the different types of the syndrome. Various inheritances are now associated with the syndrome.
In addition to autosomal recessive and X-linked recessive inheritance, autosomal dominant inheritance is also possible. Apparently, genetic defects play a major role in the disease. These defects can lie on different genes and correspond to different types of mutations.
With the mutation, the genetic material changes in a specific localization. This change in the genetic material results in an anomaly in the associated gene products. The individual gene products therefore no longer have their physiologically intended form.
With this loss of form, they also lose their intended function. The consequences are functional defects that manifest themselves in the form of malformations. What is inherited is the respective mutation with all associated malformations. For the popliteal form, for example, the mutation is on the IRF6 gene at locus 1q32.2.
Symptoms, Ailments & Signs
The symptoms of patients with multiple pterygium syndrome can be as different as the type of mutation. In the autosomal recessive type, the syndrome manifests itself primarily through facial malformations with downward running lid axes, a prominent bridge of the nose, a low neck hairline and a narrow auditory canal.
Short stature and hearing loss are other symptoms. In this type, pterygia occurs on the neck, armpits, fingers, or between the chin and chest. Clubfoot with fused toes may also be present. The spine often has vertebral malformations and is crooked (scoliosis).
Rib anomalies and genital malformations are also common. The popliteal form of the syndrome, on the other hand, presents with multiple alar membranes in the popliteal fossa. Glued lid cleft, cleft lip and palate and syndactyly are the common accompanying symptoms of this type. There is usually no short stature in the Frias type.
The lethal form of the syndrome presents in most cases with pterygia that limit mobility. In addition, malformations in the area of the skull, neck, face, genitals and vertebral bodies are often observed in patients with the lethal type.
Diagnosis & course of disease
The doctor usually diagnoses multiple pterygium syndrome immediately after birth. Most of the time, the suspected diagnosis is purely based on visual diagnostics. The characteristic wing skins of the patients are an extremely specific phenomenon and thus provide concrete indications of the disease at first glance.
The course and severity can often not be classified by visual diagnosis, but requires more extensive diagnostics with specific examinations such as imaging. The prognosis of the patient depends in detail on the symptoms present and their severity. In addition to lethal forms, forms without a direct impairment of life expectancy are also known.
Pterygium syndrome causes various malformations in the patient’s face. These malformations can significantly limit the aesthetics of those affected and thus lead to reduced self-esteem or to inferiority complexes and depression. Furthermore, it is not uncommon for hearing problems to occur, so that in the worst case it can even lead to complete hearing loss.
The quality of life of those affected is significantly reduced by the pterygium syndrome. A so-called cleft palate also develops. The mobility of the patient can also be restricted and reduced in many cases. The malformations can also affect the neck or skull. It is not uncommon for the genitals to be affected by the pterygium syndrome, so that sexual intercourse may be restricted.
Pterygium syndrome is treated by surgical intervention. This means that most complaints and malformations can be limited relatively well. Special complications do not usually occur with these treatments. In many cases, however, psychological treatments are also necessary to prevent or treat depression. However, the life expectancy of the patient is not affected by the pterygium syndrome.
When should you go to the doctor?
If symptoms such as short stature or hearing loss are noticed, a doctor’s visit is necessary. Affected people are usually examined shortly after birth, and the disease can be clearly diagnosed. In the case of mildly pronounced syndromes, however, a diagnosis can only be made later. The patients then usually consult the doctor because of non-specific complaints, such as a cleft lip and palate or a restricted mobility. Furthermore, a doctor should be consulted if the symptoms worsen or complications arise during treatment.
Multiple pterygium syndrome is treated by the general practitioner or an internist. Various specialists can also be consulted to treat the individual symptoms. Clubfoot must be seen by an orthopedic surgeon, while genital malformations are examined and, if necessary, treated by a proctologist, urologist or gynecologist. Since the disease is in most cases accompanied by psychological complaints, the responsible doctor will usually also suggest a therapeutic consultation.
Treatment & Therapy
A causal therapy is not yet available for patients with multiple pterygium syndrome. Causal forms of therapy start at the cause. In the course of a causal therapy, the elimination of the trigger leads to absolute and permanent freedom from symptoms.
Since the cause of the syndrome lies in a genetic mutation, a causal treatment of the disease would have to start with the genes. However, gene therapy approaches have not yet reached the clinical phase. Nonetheless, scientists have seen advances in gene therapy over the past decade that may in the future provide a causal therapy for genetic mutations.
Since this stage has not yet been reached, patients with multiple pterygium syndrome have so far been treated purely symptomatically and supportively. The focus of symptomatic treatment is the surgical correction of all life-threatening malformations. Severe rib malformations can constrict the lungs and heart, for example, and in this case have to be expanded using invasive procedures.
Scoliosis can in turn reach degrees of severity that result in a severe impairment of the quality of life. To improve the quality of life, the phenomenon is often treated with corset constructions. Basically, the therapy depends heavily on the symptoms in the individual case. Psychotherapeutic care is often available to patients and relatives on the part of the supportive measures.
Outlook & Forecast
The cause of multiple pterygium syndrome lies in the human genome. The causal triggers of the disease cannot be eliminated according to the current medical status. It remains to be seen to what extent science will advance in the foreseeable future. In any case, multiple pterygium syndrome leads to a reduction in the quality of life.
Malformations sometimes have to be corrected with surgical interventions, although the results are not always satisfactory. Complaints are not uncommon throughout life. Outpatient therapy measures and aids must be used continuously. Multiple pterygium syndrome is very rare. Researchers find it in one in a million people. The severe malformations are usually associated with a significantly shortened lifespan. The extent of the signs plays an important role. Doctors also make an important contribution to survival when they receive organs.
In some cases, sick children do not even reach childhood or adolescence. If patients do without treatment, the malformations usually have such a negative effect that death occurs after some time. Parents in particular often suffer from the psychologically stressful situation.
So far, multiple pterygium syndrome can only be prevented by fine ultrasound. The malformations can often be detected in the fine ultrasound in the early stages of pregnancy. Depending on the findings, couples may decide to have an abortion.
Since multiple pterygium syndrome is a genetically predisposed disease, there is hardly any aftercare option. Only symptomatic therapies for the disease are intended to simplify the life of newborns. In addition, parents or relatives can apply massages or relaxation techniques to the person concerned.
Sound and smell therapies can also provide pain relief in newborns. The newborns should engage in activities and be exposed to objects and nursery rhymes. Because not all areas of the brain are affected by the disease, these activities can help the affected child despite the serious illness. However, the most important aspect of aftercare is the physical and psychological well-being of the parents and relatives.
The disease is extremely stressful and can therefore lead to severe mental disorders in family members. The well-being of family members should therefore be just as important as the seriously ill child. This significantly improves the quality of life of the newborn. The family can offer the affected child an eventful rest of life and be a real support. There are no other follow-up options for multiple pterygium syndrome.
You can do that yourself
Since multiple pterygium syndrome is a genetic disease, there are hardly any opportunities for self-help. This can only consist of symptomatic therapies. Such include measures to improve the quality of life of the newborn.
In addition to medical treatments, these can consist of massage and relaxation techniques that can be used by parents and relatives. Other alternative methods such as smell and sound therapies can also be used to relieve pain and stimulate the toddler. Childlike activities and objects, such as toys and nursery rhymes, are perceived and processed by newborns. Because not all areas of the brain are affected by the disease, such treatments can benefit children despite the seriousness of the condition.
However, self-care on the part of parents and relatives is also important when caring for sick children. The extreme stressful situation presented by the serious illness of the newborn can be an extreme physical and psychological burden for the family. Therefore, when it comes to self-help, the focus should always be on the well-being of the relatives caring for you. This is the only way they can provide support and make the child’s lifetime as beautiful as possible.