EEC syndrome is a rare condition that is present at birth. The abbreviation stands for the terms ectrodactyly, ectodermal dysplasia and cleft (English name for cleft lip and palate). Thus, the disease term summarizes the three most important symptoms of EEC syndrome. Patients suffer from a cleft hand or foot and defects of ectodermal dysplasia.
What is EEC syndrome?
EEC syndrome represents a disorder in the development of affected individuals that is established at birth. EEC syndrome forms as a result of genetic mutations in patients. The three typical symptoms of EEC syndrome consist of ectodermal dysplasia, ectrodactyly, and an oro-facial cleft. Basically, EEC syndrome is extremely rare. While the exact incidence of the disease is not known, only slightly more than 300 cases of the disease are currently found in the medical literature. In 1970, several physicians distinguished EEC syndrome as an independent disease from other diseases with similar symptoms. These were the physicians Passarge, Rüdiger and Haase. EEC syndrome is characterized by an autosomal dominant mode of inheritance. According to conjecture, a first description of the disease took place as early as 1804 by the physicians Martens and Eckoldt.
Causes
In principle, EEC syndrome results from gene mutations on specific gene sequences. In the majority of cases, EEC syndrome forms as a result of so-called missense mutations. These occur on a gene called TP63 at gene locus 3q27. This gene is responsible for encoding a transcription factor that plays an important role in the formation of extremities and ectoderm. Mutations on this gene are associated with the typical EEC syndrome. In this case, the phenotype and genotype usually correlate. In other mutations, patients suffer from malformations of the inner ear as well as the auricles. Inheritance of EEC syndrome is in an autosomal dominant manner. The penetrance of EEC syndrome ranges from 93 to 98 percent and is therefore not complete. The expressivity of the disease is also variable.
Symptoms, complaints, and signs
EEC syndrome varies widely in its symptoms in individual cases. The various genetic mutations are primarily responsible for these variations. Typical signs of EEC syndrome consist of syndactyly, a cleft foot or hand, and a cleft lip and palate on both sides. However, in some cases, only a cleft lip is present. The lacrimal ducts of patients with EEC syndrome are usually affected by atresia, and individuals are also photophobic and suffer from conjunctivitis, chronic blepharitis, and dacryocystitis. The iris of those with the disease usually has a blue tint. The anlagen for the teeth are often absent or too small. The incisors are of below average narrow appearance and resemble pencils in shape. The hair on the head grows sparsely, and the growth of eyelashes and eyebrows is also weak. Patients often have light blond hair that curls slightly. The auricles are usually deformed, and the individuals also suffer from impaired hearing. In addition, choanal atresia, hypohidrosis and hyperkeratosis are present. The nails on fingers and toes are often deformed in EEC syndrome. The kidneys and urinary tract may also be affected by malformations. Patients usually have dry skin that forms few pigments and is therefore very pale. Basically, the typical signs of EEC syndrome vary in severity in individual cases. Also, the main symptoms do not occur together in all sufferers. However, most people affected by EEC syndrome have average intelligence, while physical development is often delayed.
Diagnosis
Various medical specialists participate in the diagnosis of EEC syndrome. During the patient interview, the physician attempts to ascertain the symptoms and medical history as accurately as possible. Visual and X-ray examinations play an important role in the clinical examination. Depending on the localization of the symptoms, the doctor will visualize the jaw or the extremities, for example. He also examines the kidneys using ultrasound technology.The physician takes swabs from the skin and orders a laboratory histological analysis of the samples. A reliable diagnosis of EEC syndrome is usually only possible with the help of a genetic test. In this test, the physician identifies the typical genetic mutations that cause EEC syndrome. In some embryos, EEC syndrome can already be detected during pregnancy. Corresponding prenatal examinations are particularly useful in those families in which corresponding mutations have already occurred. In the differential diagnosis, the treating physician differentiates EEC syndrome from Hay-Wells syndrome and ectodermal dysplasia.
Complications
The complications of EEC syndrome and its expression vary widely in most people. However, most patients suffer from a cleft foot and a cleft hand. The lip may also be affected by a cleft. EEC syndrome causes many patients to experience inferiority complexes and decreased self-esteem due to the altered appearance. The quality of life is significantly reduced by the syndrome. In many cases, the teeth are also affected by malformations. Hair growth is also limited, so that there is almost no formation of hair on the head or eyebrows. Often children suffer from EEC syndrome because they are teased due to the altered appearance. Most often, hearing loss and dry skin occur in patients. Intelligence is usually not affected by EEC syndrome and can develop in the usual way. Unfortunately, there is no treatment available for EEC syndrome. However, surgical procedures can be performed to cosmetically correct the deformities. Physical therapy is also often performed to strengthen the patient’s movement patterns. There are no other complications with the treatment methods. However, the patient must live with the symptoms of EEC syndrome for the rest of his or her life.
When should you see a doctor?
Since EEC syndrome is usually present since birth, this does not require an additional visit to a doctor for diagnosis. However, since those affected suffer from various malformations and deformities, a doctor should always be consulted if this causes limitations and discomfort in everyday life. The teeth and ears can also be affected by this syndrome and should be corrected if necessary. An ENT doctor should be consulted if the patient suddenly suffers from hearing loss. Since EEC syndrome also significantly slows down the child’s mental and physical development, a medical examination and further support is necessary in this case. This can prevent complaints in adulthood. Likewise, a psychologist must also be consulted if the child or parents have psychological complaints. Furthermore, EEC syndrome can also lead to malformations of the kidneys or urinary tract, so that these areas of the body should also be examined regularly. With successful treatment, there is usually no decreased life expectancy for the patient.
Treatment and therapy
There is no causative therapy for EEC syndrome. However, patients usually receive symptomatic treatment tailored to their symptoms by means of surgical cosmetic corrections and orthodontic therapy. Physical therapy is also helpful for most patients. In principle, the prognosis of EEC syndrome is favorable, so that sufferers usually reach a normal age.
Outlook and prognosis
The prognosis for EEC syndrome is usually very favorable. Usually, life expectancy is not reduced. However, in rare cases, complications may occur, which may be fatal. So far, only very few cases of this autosomal dominant mutation have been described. However, since the clinical picture is highly variable, a larger number of unreported cases is assumed. Although the disease is characterized by the three cardinal signs of cleft hands and cleft feet, cleft lip, and abnormalities of various ectodermal structures, all symptoms vary in severity among individuals and do not necessarily occur simultaneously. This variability also determines the individual prognosis of the disease. If hypohidrosis, i.e. reduced ability to sweat, is one of the dominant signs of the disease, there is always a risk of life-threatening complications.Due to reduced sweating, body heat cannot be effectively dissipated when clothing is too thick, the outside temperature is elevated, or physical exertion occurs, so deaths can result from heat accumulation. Therefore, proper treatment of hypohidrosis is one of the most important elements of therapy for EEC syndrome. Some affected individuals also suffer from hearing loss. Furthermore, ongoing ophthalmologic treatment is required to prevent cataracts or corneal scarring. Although life expectancy is almost normal, there is often a reduction in quality of life due to the multiple visible abnormalities. In individual cases, this can lead to psychological problems and social exclusion.
Prevention
EEC syndrome is genetic in nature and thus eludes preventive measures. Only prenatal diagnosis is feasible. However, the disease virtually does not limit patients in their life expectancy.
Follow-up
In EEC syndrome, measures or options for follow-up care are usually very limited. Since it is also a congenital disease, it also cannot be treated completely and therefore only purely symptomatically. A complete cure cannot be achieved. The earlier EEC syndrome is detected, the better the further course of the disease usually is. Should the patient wish to have children in the course of his or her life, genetic counseling can also be performed. This may prevent the syndrome from being passed on. The treatment of EEC syndrome is usually carried out with the help of physiotherapy, so that the mobility of the affected person is increased. Some of the deformities can also be corrected in the process. In many cases, the affected person can perform the exercises at home on his or her own, thus promoting recovery. After an operation, bed rest should be observed in any case, so that the body can recover. Psychological support is also very useful in EEC syndrome to prevent depression and other psychological upsets. In most cases, EEC syndrome does not reduce the life expectancy of the affected person.
Here’s what you can do yourself
In EEC syndrome, patients have no possibility to achieve a change or cure of the physical abnormalities with their own capacities. To date, the hereditary disease is considered incurable. For a correction of certain impairments a medical cooperation must take place. In everyday life, the affected person can take various measures to strengthen his emotional condition. Participation in self-help groups or digital exchange with other sufferers can be found very helpful. In contact, mutual assistance can be given and the challenges in dealing with the disease on a daily basis can be discussed. Relatives should inform the sick child as early as possible about EEC syndrome, their symptoms and the course of the disease. Increasing self-awareness and answering all questions are important to eliminate ambiguity and avoid surprises. Family members who also have EEC syndrome can share their experiences and offer support for the child. Together, obstacles can be overcome in everyday life. Awareness should also be focused on the child’s strengths. Joint activities in which a sense of achievement can be built are a good way to promote self-confidence and improve the quality of life.
