The CHILD syndrome belongs to the group of hereditary skin diseases, which are called genodermatoses. It is a very rare disease that only affects one half of the body, usually the right half. In addition to genodermatosis, malformations of limbs and anomalies of internal organs occur at the same time.
What is CHILD Syndrome?
According to AbbreviationFinder, the acronym stands for CHILD ” C ongenitale H emidysplasie with I chthyosiformen nevi and L IMB D performance effects”, which in a term the skin disease describes and deformities and abnormalities of limbs and internal organs. This congenital disease was first described in 1968 by the human geneticist Arthur Falek.
This term was coined in 1980 by the dermatologist Rudolf Happle. It is a congenital disease that is passed on to the child in a dominant X-linked manner. Fewer than 60 cases have been reported to date. Due to the dominant X chromosome, inheritance to the male sex is associated with fatal malformations.
Causes
Since the right half of the body is usually affected by CHILD syndrome, this disease is also known as half-sided syndrome. The cause is monogenic inheritance through the dominant X chromosome, whereby a mutation is fatal in male patients.
The cause is mutations in the NSDHL gene (Xq28). Enzymes that are involved in cholesterol biosynthesis are affected. This enzyme, which is important for embryonic development, is missing in the cells, resulting in a very broad spectrum of malformations.
Symptoms, ailments & signs
Characteristic of the CHILD syndrome is a unilateral, congenital skin disease that belongs to the group of ichthyosiform erythroderma. The specialist literature describes erythroderma as reddening of the entire skin organ, which in this case only affects the right half of the body.
The skin has ichthyosiform areas in spotted form (nevi) with growing, whitish-yellowish scales, which are differently extensive and sharply delimited. A patchy involvement of the left side is possible, however. The skin manifestations are particularly pronounced in the skin folds, whereby the face is usually not affected.
The skin is reddened, flaky, infiltrated, and inflamed. Ichthyosis is the collective term for skin affected by cornification disorders that is passed on through a genetic defect. The term comes from the Greek language and means “fish”, which is why ichthyoses are colloquially referred to as fish scale disease.
The limbs of the affected half of the body have one or more underdeveloped extremities, which are characterized by shortened metacarpals of the fingers and / or toes or by missing extremities. During the first months of life, the x-rays show localized calcifications (calcification) of the articular cartilage.
Other abnormalities affect the central nervous system, kidneys, heart, and lungs. Other possible abnormalities include missing vertebrae, long bones, and ribs. Most of the children affected show normal mental development, with bilateral defects in the central nervous system and the brain (lissencephaly).
The cerebellum and spinal cord can also be affected. In individual cases, the absence of individual facial muscles, hearing loss, a congenital bilateral hip malposition and a degenerative disease of the optic nerve have been described. The underdevelopment of the thyroid, adrenal glands, fallopian tubes and ovaries is also possible.
Diagnosis & course
A differential diagnosis must be made with regard to diseases that take a similar course, such as Conradi-Hünermann syndrome, Schimmelpenning-Feuerstein-Mims syndrome (nevus sebaceus) and Klippel-Trenaunay syndrome. CHILD syndrome is an exception in the group of congenital anomalies with exclusively unilateral development, which is generally not hereditary.
The general non-inheritance of this one-sided training can, according to doctors, be explained by the fact that a genetic defect that is passed on over several generations does not only affect one half of the body. However, more than two thirds of the CHILD syndromes documented to date are exclusively affected on the right side. Doctors suspect that a left-sided disease with strongly developed heart involvement leads to prenatal death.
The pronounced skin manifestations as well as the anomalies and malformations of limbs and organs are a diagnostic indication, with X-rays making the malformations of the internal organs visible. An echocardiogram, an ultrasound scan of the internal organs, and a whole-brain MRI are used to detect other abnormalities.
Complications
With the CHILD syndrome, the patient suffers from significant malformations and deformities all over the body. In most cases, it mainly affects the internal organs and limbs. This results in severe movement restrictions, so that the patient may have to rely on the help of other people in everyday life. The entire skin of the patient is reddened, which can lead to severe aesthetic discomfort.
In most cases, these are also linked to depression and other mental illnesses. It is not uncommon for spots to form on the skin. Mental development is usually not influenced by CHILD syndrome. However, especially in children, the various malformations can lead to bullying and teasing. These complaints have a negative impact on children’s lives and can lead to behavioral disorders and discomfort in adulthood.
Seeing and hearing are not infrequently restricted by CHILD syndrome. In the worst case, the patient can go blind or completely lose their hearing. Treatment can only be symptomatic and does not lead to any further complications. Since CHILD syndrome is not fatal, the symptoms can be alleviated by surgical interventions.
When should you go to the doctor?
If an accident or fall occurs as a result of the malformations and deformities, those affected by CHILD syndrome should go to a hospital. The pediatrician should be called in if the child increasingly complains of pain, itching, and other discomfort.
The characteristic reddening must be closely monitored by a doctor and treated if necessary. In the event of inflammation or unusually strong dandruff, the child should be taken to a general practitioner or dermatologist immediately.
The same applies if the hip misalignment that often occurs causes a poor posture – in this case, an orthopedic surgeon must be consulted. In the case of left-sided disease, a doctor must be consulted at the first signs of a cardiac arrhythmia. If depression, inferiority complexes and other mental illnesses occur as a result of the illness, psychological advice is required.
Due to the multitude of possible symptoms that CHILD syndrome can cause, children who are affected should always see a specialist on a regular basis. In the event of severe complications, it is advisable to contact the emergency medical service.
Treatment & Therapy
In women affected, the CHILD syndrome is not fundamentally fatal, but there is no cure. Depending on the extent of the malformations and anomalies, there are different long-term prognoses. Cardiac and pulmonary abnormalities are potentially fatal and require immediate surgical intervention.
Kidney malformations can be treated by removing the affected organ or draining it. The affected areas of the skin can be alleviated through appropriate treatment and care measures. Dermatologists prefer to use urea-based preparations, which are also used to treat neurodermatitis.
Topical immunomodulators such as pimecrolimus and tacrolimus have proven themselves in local therapy. The long-term treatment of the affected areas of the skin is carried out with emollients, which are the basis of many cosmetic and medicinal ointments. They are lipophilic substances that act as moisturizers to soften the skin.
Ointments or lotions with simvastatin or Lovastation in combination with cholesterol have also proven their worth. Also cortisone -containing preparations can mitigate the side effects of these skin diseases. The infant’s parents play a central role in therapy.
You must guarantee compliance with the care and treatment measures, whereby the instructions of the doctor treating you must be strictly followed. Depending on the extent of the skin diseases and malformations, autologous skin grafts and corrective surgical interventions may be necessary. Orthopedic braces can help with skeletal malformations.
Outlook & forecast
Since the CHILD syndrome is a complex of genetic malformations, the cause of the syndrome cannot be treated, with only symptomatic treatment available to the person concerned. Complete healing is not achieved.
The further course also depends on the extent of the skin discomfort, so that in some cases skin grafts may also be necessary to completely alleviate the discomfort. Due to the symptoms of the skeleton, those affected are also dependent on help in everyday life.
If the CHILD syndrome also leads to malformations of the heart or lungs, these malformations usually lead to the death of the person concerned or to a significantly reduced life expectancy. These can only be resolved through immediate intervention after the patient is born.
Mild skin complaints can also be alleviated with the help of medication and creams, although lifelong therapy is necessary. Since the patient’s intelligence is not negatively affected by CHILD syndrome, normal mental development usually occurs. Malformations of the cerebellum can lead to hearing problems that can usually no longer be treated. They are only relieved by a hearing aid.
Prevention
Since it is an X-linked dominant hereditary disease, expectant mothers must be screened for minimal symptoms. An investigation is also carried out for an NSDHL mutation. A genetic test from chorionic villus sampling provides information about whether the embryo is infected.
Certain abnormalities can be identified through routine sonograms. There is a 50 percent chance that it will be transmitted from mother to daughter. However, inheritance to live-born male infants is not possible. Because of this initial situation, prevention in the clinical sense is not possible.
Aftercare
In the case of CHILD syndrome, lifelong treatment and monitoring are necessary due to the symptoms of this genetic disease. In this respect, it does not seem entirely correct to speak of follow-up care. This includes a tendency to improve, which cannot be given here.
The symptoms that occur near birth due to CHILD syndrome are usually only developed on one side of the body. The opposite side of the body can, however, also be affected by slight damage. The abnormalities in several organ systems require constant symptomatic treatment. In addition to the symptoms that already exist, further changes can occur in the course of life. These mostly affect the spine or other joints. If necessary, the damaged skeleton must be supported.
Due to the rarity of CHILD syndrome, treatment options are limited. In the case of organic anomalies, surgery often has to be carried out at an early age so that the person concerned does not die. Skin transplants occasionally occur. In both cases, special follow-up care is required as most of the patients are newborns. Otherwise, treatment is symptom-oriented. Long-term monitoring is necessary if corticosteroids or immunomodulators are given. This is one of the aftercare measures.
The people who provide follow-up care for CHILD syndrome should also keep an eye on any potential deterioration or new symptoms. People affected by CHILD syndrome need lifelong support.
You can do that yourself
Everyday life poses challenges for patients with CHILD syndrome. Depending on how pronounced the course of the disease is, different things have to be considered.
The inflammation of the skin must be treated regularly. For this, patients can use ointments or creams that are particularly fatty and contain few fragrances. The lotion soothes the skin and makes it less sensitive. It is also important to keep the skin warm at all times. That is why patients with CHILD syndrome must not wear clothes that are too thin. Otherwise they could cool down quickly.
If there are physical limitations due to deformities of limbs, everyday life becomes even more difficult for the patient. In many cases, however, the other half of the body is normal. The patients can therefore often carry out light activities without assistance. Even driving a car is possible if the car is equipped with an automatic control instead of a gearbox.
Other impairments such as walking or hearing can be compensated for by using walking aids or hearing aids. In special therapies, patients can learn how to use such aids in their everyday life.
