Dorothy FarrarADULT syndrome
The name ADULT Syndrome is an acronym and stands for: Acro (Acres – the outer ends of the organism, i.e. affecting mainly the human hands and feet), Dermato (affecting the skin), Ungual (affecting the nails), Lacrimal (the tear duct concerning), Tooth (English for tooth). So it describes the regions of the body where it can occur. This is an extremely rare hereditary disease.
What is ADULT Syndrome?
This disease is very rare and is inherited in an autosomal dominant manner. This means that even one defective gene is enough to trigger the disease. If one parent carries the genetic defect but the other does not, there is a 50% risk for the child of also getting the disease.
If both parents carry the defect, this risk increases to 75%. The ADULT syndrome was first described in 1933 and is only known to occur in 2 families and 14 individual cases. The probability of contracting it is given as 1:1,000,000.
Causes
ADULT syndrome is caused by a gene mutation , specifically a mutation of the TP63 gene at gene locus 3q28. This is responsible for coding a protein, which in turn plays a key role in the development of limbs and the tissues of hair and nails. If there is a mutation here, those affected will usually suffer from malformations in the corresponding regions.
ADULT syndrome is one of the so-called allelic diseases (alleles are different variants of a gene). This means that this syndrome is only triggered by a mutation at a specific point in the p63 gene. If the mutation is located elsewhere in this gene, this leads to syndromes with other clinical pictures (Hay-Wells syndrome, EEC syndrome, SHFM4 or Rapp-Hodkgin syndrome). Depending on the severity, the symptoms of ADULT syndrome can vary widely. Some sufferers may suffer from a greatly reduced form of the disease, while others may experience multiple or all of the symptoms.
Symptoms and course
Typical symptoms of ADULT syndrome:
- lentigines
The ADULT syndrome has a very complex clinical picture and can be expressed in numerous symptoms. Cleft palate, cleft lip and palate , cleft hand, cleft foot and malformation (dysplasia) of the nails are typical. Hypoplasia (underdevelopment) of the nipples (nipples) can also indicate the ADULT syndrome. Individual lentigines (congenital, benign skin spots) can also be due to the rare hereditary disease.
In some cases, the skin is extensively covered with many brownish spots. This pigment change is called “freckling”. Also characteristic of ADULT syndrome is sparse hair growth (usually blond and frizzy) and hypoplasia of the eyebrows and eyelashes. Anodontia (congenital absence of several teeth up to edentulism) or microdontia (malformations with teeth that are too small) can also be present.
Atresia (congenital blockage) of the tear ducts, photophobia (phobia, sensitivity to light), blepharitis (inflammation of the eyelids) , conjunctivitis (conjunctivitis), dacryocystitis (blockage of the tear ducts) and blepharophimosis (narrowing of the eyelid fissures) are also symptoms of ADULT syndrome. Most of these symptoms are chronic.
Diagnosis
Since ADULT syndrome is a very rare disease, numerous examinations are necessary in order to be able to make a clear diagnosis. In principle, however, a doctor should be consulted immediately if typical symptoms of the disease are noticed in newborns or small children during the first years of life. Of course, the congenital malformations of the extremities or face are the first to be noticed.
If the pediatrician suspects ADULT syndrome, the affected person is referred to a specialist who then carries out further diagnostics. After an anamnesis has been taken, specific information about the symptoms is collected. Special further visual examinations, X -rays and imaging examinations are also used to support the diagnosis . It is then usually possible to rule out other diseases relatively quickly. Furthermore, any malformations of the teeth can be detected even in small children.
Complications
Various malformations and complications occur in ADULT syndrome. In most cases, those affected suffer from a pigment disorder on the skin. This pigment disorder is very similar to freckles. Many patients suffer from reduced self-esteem and inferiority complexes due to the ADULT syndrome. Social relationships and contacts can also be limited due to the changed appearance. In many cases, the hair is very light in color and the eyebrows and eyelashes are deformed. These cosmetic symptoms can lead to depressive moods. In most cases, those affected also suffer from a so-called split foot or a split hand.
Unfortunately, it is not possible to treat or cure ADULT syndrome. However, some of the symptoms can be offset. Surgical or orthopedic interventions are primarily used to correct the deformities. There are no further complications or complaints during the treatments. Life expectancy is not reduced by ADULT syndrome. The pigment disorders themselves do not represent a dangerous condition for the body and do not necessarily have to be treated. However, cosmetic treatments are possible if the patient feels uncomfortable with these disorders.
Treatment and therapy
Due to its rarity, the ADULT syndrome is still very little researched and there are no corresponding studies. Affected patients are usually treated according to their symptoms. Since these are congenital malformations and chronic malfunctions, those affected usually become long-term patients. For example, malformations of the teeth are treated orthodontically. In most cases, a corresponding denture is also fitted at an early stage.
The cleft palate as well as the cleft lip and palate can be operated on. The affected patients will also usually have to undergo numerous operations for the deformities in the limbs. The underdeveloped nipples are also treated surgically. If the tear duct is blocked, this should be operated on in infancy, otherwise inflammation can result. Photophobia can be treated with anti-inflammatory, antibacterial, or pain-relieving medications. Eye drops can relieve chronic conjunctivitis.
The sparse hair growth can be remedied with wigs or hair transplants. Underdeveloped eyebrows and eyelashes can also be corrected. However, in view of the complex overall picture of the disease, these are still the “harmless” interventions. Basically, it can be said that the patients affected by ADULT syndrome have to undergo countless operations and treatments from various specialists. There is no such thing as a complete cure, and so the ADULT syndrome diagnosis is synonymous with a life shaped by hospital stays and visits to the doctor.
Prevention
As already described several times, there are very few people who suffer from this rare hereditary disease. Therefore, no studies are available to date that could provide more detailed information. It is only accepted that ADULT syndrome is caused by a gene mutation. If one partner carries a genetic defect but the other does not, there is a 50% chance that the unborn child will also develop the disease. If both partners carry the same defect, this increases many times over. Couples who wish to have children and who are known to have such a genetic defect should therefore undergo a genetic test. In this way, the probability that the unborn child will contract it can be calculated. This is the only prevention of hereditary diseases.
Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.