Multiple pterygium syndrome is present in patients with numerous airskin-like folds of mucosa or skin. Several forms are distinguished. No causal therapy exists to date.
What is multiple pterygium syndrome?
“Pterygium” literally translates as “wing fur.” This medical term refers to a physical abnormality that is manifested by folds of skin and mucous membrane similar to wing skin. Most commonly, the skin folds are located on the side of the neck between the mastoid process and the highest part of the scapula. This localization is also referred to as pterygium colli. The pterygium can be a symptom of a superordinate clinical picture. This is the case, for example, in Ullrich-Turner syndrome. In multiple pterygium syndrome, several pterygia are present at the same time. This syndrome occurs in different forms. Besides an autosomal recessive form, medicine knows a popliteal and an autosomal dominant form. Furthermore, a Frias type, a lethal type and an X-linked type of the syndrome exist. Thus, multiple pterygium syndrome may be associated with fundamentally different symptoms and may have a correspondingly diverse course. The prevalence of each type differs. Essentially, however, all types of the syndrome correspond to rather rare diseases, affecting on average about one in a million.
Causes
Multiple pterygium syndrome always has a genetic basis. This means that internal factors within the DNA are responsible for passing on the disease. In the different types of the syndrome, the mode of transmission also differs. Various modes of inheritance are now associated with the syndrome. In addition to an autosomal recessive and an X-linked recessive mode of inheritance, autosomal dominant inheritance is also possible. Apparently, genetic defects play a major role in the disease. These defects can be located on different genes and correspond to different types of mutations. In the mutation, the genetic material changes in a certain localization. This change of the genetic material results in an abnormality of the assigned gene products. Thus, the individual gene products no longer carry their physiologically intended form. This loss of shape also causes them to lose their intended function. The result is functional defects that manifest themselves in the form of malformations. What is inherited is the respective mutation with all associated malformations. For example, for the popliteal form, the mutation is located on the IRF6 gene at gene locus 1q32.2.
Symptoms, complaints, and signs
As the type of mutation varies, so can the symptoms of patients with multiple pterygium syndrome. In the autosomal recessive type, the syndrome is manifested primarily by facial malformations with downwardly extending eyelid axes, prominent nasal bridge, low nuchal hairline, and narrow ear canal. Short stature and hearing loss are other symptoms. Pterygia in this type occurs on the neck, armpits, fingers, or between the chin and chest. In addition, clubfoot with fused toes may be present. The spine often carries vertebral body malformations and is curved (scoliosis). In addition, rib abnormalities and genital malformations are often present. The popliteal form of the syndrome, on the other hand, presents with multiple wing skins in the popliteal fossae. Closed palpebral fissures as well as cleft lip and palate and syndactyly are the frequent accompanying symptoms of this type. In Frias type, there is usually no short stature. In most cases, the lethal form of the syndrome shows pterygia, which limits mobility. In addition, patients with lethal type often have malformations of the skull, neck, face, and genital and vertebral bodies.
Diagnosis and course of the disease
The diagnosis of multiple pterygium syndrome is usually made by the physician immediately after birth. In most cases, the suspected diagnosis is made purely by visual diagnosis. The characteristic wing skins of the patients are an extremely specific phenomenon and thus provide tangible clues to the disease at first glance. Classification of course and severity often cannot be made by visual diagnosis, but requires more extensive diagnostics with specific examinations such as imaging.The prognosis of patients depends in detail on the symptoms present and their severity. In addition to lethal forms of progression, forms of progression without direct impairment of life expectancy are also known.
Complications
Pterygium syndrome results in various malformations of the patient’s face. These malformations can thereby significantly limit the aesthetics of the affected person and thus lead to a lowered self-esteem or to inferiority complexes and depression. Furthermore, hearing problems are not uncommon, so that in the worst case complete hearing loss can occur. The quality of life of the affected person is considerably reduced by the pterygium syndrome. Furthermore, a so-called cleft palate may develop. The mobility of the patient can also be restricted and reduced in many cases. The malformations can also affect the neck or the skull. It is not uncommon for the pterygium syndrome to affect the genitals as well, possibly leading to restrictions in sexual intercourse. Pterygium syndrome is treated by surgical intervention. This can limit most of the symptoms and deformities relatively well. Special complications usually do not occur with these treatments. In many cases, however, psychological treatments are necessary to prevent or treat depression. However, the patient’s life expectancy is not affected by pterygium syndrome.
When should you see a doctor?
When symptoms such as short stature or hearing loss are noticed, a visit to the doctor is necessary. Affected individuals are usually examined shortly after birth, at which time the disease can be clearly diagnosed. In the case of mildly pronounced syndromes, however, a diagnosis may not be made until later. Patients then usually consult the doctor due to non-specific complaints, for example due to a cleft lip and palate or due to a restriction of mobility. Furthermore, a doctor should be consulted if the complaints become more severe or if complications occur during treatment. Multiple pterygium syndrome is treated by the family doctor or an internist. Various specialists may also be consulted to treat the individual symptoms. For example, a clubfoot must be seen by an orthopedist, while malformations of the genitals are examined and, if necessary, treated by a proctologist, urologist or gynecologist. Since in the vast majority of cases the condition is accompanied by psychological symptoms, the doctor in charge will usually also suggest therapeutic counseling.
Treatment and therapy
Causal therapy is not yet available for patients with multiple pterygium syndrome. Causal therapies address the cause. In the course of causal therapy, elimination of the trigger leads to absolute and permanent symptom freedom. Since the cause of the syndrome lies in a genetic mutation, a causal treatment of the disease would have to start at the genes. However, gene therapy approaches have not yet reached the clinical phase. Nonetheless, scientists have recorded advances in gene therapy over the past decade that could potentially mean causal therapy for genetic mutations in the future. Because this stage has been unreached to date, patients with multiple pterygium syndrome have been treated purely symptomatically and supportively. Symptomatic treatment focuses on surgical repair of all life-threatening malformations. Severe rib malformations, for example, can constrict the lungs and heart, in which case they must be widened via invasive surgery. Scoliosis, in turn, can reach degrees of severity that result in severe impairment of quality of life. To improve the quality of life, the condition is often treated by means of corset constructions. Basically, the therapy depends strongly on the symptoms in the individual case. Psychotherapeutic care is often available to patients and relatives on the side of supportive measures.
Outlook and prognosis
The cause of multiple pterygium syndrome lies in the human genome. According to current medical knowledge, the causal triggers of the disease cannot be eliminated. The extent to which science will make progress in the foreseeable future remains to be seen.Multiple pterygium syndrome leads in any case to a reduction of the quality of life. Malformations have to be corrected partly with surgical interventions, whereby the results are not always satisfactory. Complaints are not infrequently present throughout life. Outpatient therapy measures and aids have to be used continuously. Multiple pterygium syndrome is very rare. Researchers find it in one in a million people. The severe deformities are usually accompanied by a significantly shortened lifespan. The extent of the signs plays an important role. Doctors also make an important contribution to continued life by preserving organs. In some cases, diseased children do not even reach childhood or adolescence. If patients do not receive treatment, the deformities usually have such a negative effect that death occurs after some time. Parents in particular often suffer from the psychologically stressful situation.
Prevention
Multiple pterygium syndrome can be prevented so far only by fine ultrasound. The malformations are often detectable on fine ultrasound at early stages of pregnancy. Couples may decide to terminate the pregnancy after the findings, if necessary.
Follow-up
Because multiple pterygium syndrome is a genetically predisposed disease, there is little opportunity for follow-up care. Only symptomatic therapies for the disease are provided to make life easier for newborns. In addition, massage or relaxation techniques can be applied to the affected person by parents or relatives. Sound and olfactory therapies can also help relieve pain in newborns. The newborn should undergo activities and be exposed to objects and nursery rhymes. By not affecting all areas in the brain, these activities can help the affected child despite severe disease. However, the most important of the aftercare is the physical and psychological well-being of the parents and relatives. The disease brings with it a high level of stress and can therefore lead to severe psychological disorders in the relatives. The well-being of the family members should therefore be as much a focus as the seriously ill child. This significantly improves the quality of life of the newborn. The family can thus offer the affected child an eventful remaining life and be a real support. There are no other options for follow-up care in multiple pterygium syndrome.
Here’s what you can do yourself
Because multiple pterygium syndrome is a genetic disorder, there are few options for self-help. This may consist only of symptomatic therapies. Such include measures to improve the quality of life of the newborn. In addition to medical treatments, these can consist of massages and relaxation techniques that can be applied by parents and relatives. Other alternative methods, such as olfactory and sound therapies, can also be used to relieve pain and stimulate the infant. Infant activities and objects, such as toys and nursery rhymes, are perceived and processed by the newborn. Since not all areas of the brain are affected by the disease, such treatments can benefit infants despite the severity of the disease. However, self-care of parents and relatives is also important in caring for sick children. The extreme stressful situation that the severe illness of newborns represents can be an extreme physical and psychological burden on the family. Therefore, the topic of self-care should also always focus on the own well-being of the caring relatives. Only in this way can they provide support and make the child’s lifetime as wonderful as possible.
