Acrogeria is also known as Gottron syndrome and is characterized by a complex of predominantly dermal symptoms including atrophy and telangiectasia. The disease is based on a mutation in gene COL3A1, which interferes with the biosynthesis of type III collagen. Therapy to date has been purely symptomatic.
What is acrogeria?
The disease is apparently one of the hereditary disorders and manifests in infancy. The disease group of endocrine disorders includes various diseases that affect the glands. The group of congenital endocrine disorders also includes acrogeria, which is better known as Gottron syndrome. The leading symptom of this disease is atrophy of the skin and subcutaneous adipose tissue, which gives patients a pre-aged appearance. Acrogeria Gottron was first documented in 1940. German dermatologist Heinrich Gottron is considered the first describer of the disease. Women are more commonly affected by the disease than men. The ratio is approximately three to one. Therefore, in connection with acrogeria Gottron is called gynecotropia. The prevalence of the syndrome is not yet known. According to estimates, it is an extremely rare phenomenon. Apparently, the disease belongs to the hereditary diseases and manifests itself already in infancy. Most often, there is talk of manifestation immediately after birth.
Causes
The cause of Gottron syndrome is genetics. The disorder does not appear to occur sporadically. Familial clusters have been documented in association with the syndrome. Inheritance appears to be based on an autosomal recessive mode of inheritance. However, due to the rarity of the disease, the mode of inheritance is not considered to be undoubted. It is possible that the inheritance may also be autosomal dominant. A genetic mutation is the cause of the symptoms. Meanwhile, the mutation has been localized to a specific gene. Thus, affected individuals usually have a mutation in the COL3A1 gene at locus 2q32.2. The COL3A1 gene codes in DNA for the pro-alpha1 chains of type III collagen. Type III collagen is found in the skin as well as the lungs, blood vessels, and gastrointestinal tract. The mutation appears to cause a defect in the biosynthesis of type III collagen that promotes acrogeria. Other sources suggest the involvement of the LMNA gene at locus 2258301.
Symptoms, complaints, and signs
Patients of acrogeria suffer from a complex of diverse, clinical symptoms that primarily affect the skin. Among the most important criteria of acrogeria is manifestation in infancy or early toddlerhood. Patients suffer from acromicrie or micrognathia with high-grade atrophy of the skin and subcutaneous tissues. The deeper structures are extremely contoured. In most cases, patients are prone to injury and often suffer from telangieectasia. In many affected individuals, these symptoms are associated with facial erythema. The facial skin is usually atrophic and appears withered for this reason. Scarlet-like exanthema is an equally common feature. The nails of patients are often affected by dystrophies. In isolated cases, the symptoms of acrogeria are associated with those of scleroderma. In these cases, sclerosis and fibrosis of the connective tissue may complete the clinical picture. The growths are benign and usually do not tend to degenerate.
Diagnosis and course
In most cases, the diagnosis of acrogeria is made postnatally or in infancy. The pre-aged appearance and general, clinical picture of the patient raises initial suspicion of the condition. Imaging is usually ordered for diagnosis. The patient’s radiograph shows rarefaction of cancellous bone. In many cases, there is also a lack of closure of the epiphyseal joints. Differentially, diseases such as Brugsch syndrome, Hutchinson-Gilford syndrome, aplasia cutis congenita, and Ehlers-Danlos syndrome must be differentiated. Especially the differentiation from the latter syndrome is a challenge for the physician. While the other diseases can be differentiated by molecular genetic analysis, this is not readily possible in the case of Ehlers-Danlos syndrome. Like acrogeria, this syndrome is due to a mutation in the COL3A1 gene. The prognosis for patients with acrogeria is favorable.
favorable.
Complications
Acrogeria causes various complications in its course, mainly affecting the skin. Patients tend to have lesions on the face and all over the body, which often become inflamed and lead to permanent skin changes or secondary diseases. Typical symptoms include scarlet rashes, which can lead to hemorrhages, pigment disorders or sensory disturbances. The skin changes also cause visual changes that can lead to psychological problems such as inferiority complexes or anxiety in those affected. In the area of the nails, acrogeria may be associated with sclerosis or fibrosis. However, corresponding growths are usually benign and lead only temporarily to health restrictions. The lower jaw, which is often reduced in acrogeria, can cause speech disorders and disturbances in tooth development, as well as breathing difficulties and even sleep apnea. During the treatment of acrogeria, the prescribed medication can lead to an increase in the symptoms. If there is an accompanying allergy or intolerance, in severe cases this can lead to organ failure and ultimately to the death of the patient. By early clarification of acrogeria, appropriate therapeutic measures can be initiated and severe complications can usually be avoided.
When should you go to the doctor?
Since acrogeria mainly causes discomfort on the skin and face, it should always be treated by a doctor. They occur in childhood and can therefore be quite easily identified and diagnosed. In general, skin complaints in children should always be examined by a doctor to rule out serious diseases. The doctor should be consulted for acrogeria when there are growths on the face or body. Even though in most cases these are benign and do not pose a health risk in the first place, they should still be treated. It is not uncommon for acrogeria to lead to inferiority complexes or lowered self-esteem. To avoid depression or other psychological upsets later on, a visit to a psychologist is also recommended. Furthermore, hemorrhages or pigmentation disorders can also be a sign of acrogeria. It is not uncommon for the medications used to treat acrogeria to also cause severe side effects and, in the worst case, organ failure. If discomfort or strange feelings occur as a result, a doctor must be consulted in any case. In this case, the drug can either be completely discontinued or replaced by another drug after consulting the doctor.
Treatment and therapy
Causal treatment is not available for patients of acrogeria. Causal therapy will not be possible until gene therapy steps are approved. To date, however, these treatment interventions have not reached the clinical phase. For this reason, acrogeria is so far considered an incurable disease. Therapy is purely symptomatic and thus depends on the symptoms in each individual case. For example, the atrophy must be slowed down or stopped by specific measures. Progressive degradation of tissue is to be prevented by blood-promoting drugs and stimulation of the metabolism. Malformations such as micrognathia can be corrected surgically. The same applies to symptomatic fibrosis. Among the most important therapeutic steps is physiotherapeutic treatment, which both stimulates the metabolism and can attenuate accompanying symptoms such as telangieectasia. In addition to sports activities, dietary measures can mitigate the symptoms of acrogeria. Because of its rarity, little is known to date about the effectiveness of individual treatment steps. Informative case reports or clinical studies on specific treatment options are scarce. However, in the context of atrophy and telangiectasia, a combination of exercise and healthy diet has been shown to be successful in the past.
Outlook and prognosis
Acrogeria usually causes discomfort to the skin. These can occur either on the face or on the rest of the body and thus always lead to unpleasant discomfort. In most cases, there is also psychological discomfort, as acrogeria negatively affects the appearance of the patient. In some cases, inferiority complexes are formed and self-esteem is lowered.Sometimes patients feel ashamed of the complaints and are socially excluded. Patients often feel generally ill and weary and no longer take an active part in life. Sufferers may also suffer from pigmentary disorders, although these do not pose any particular health risk to the patient. In some cases, acrogeria may be exacerbated by the use of certain medications, and in the worst cases it can lead to death if organ failure occurs. Treatment of the disease is currently only symptomatic and can limit many symptoms. However, no general prediction of the course of the disease is possible.
Prevention
Acrogeria is a genetic disease with underlying mutations. To date, the involvement of any external factors remains unclear. Because of these associations, no preventive measures are available.
What you can do yourself
Acrogeria must always be diagnosed and treated by a physician first. Accompanying medical therapy, the individual symptoms of the disease can be alleviated by various measures yourself. For example, physiotherapeutic treatment, which stimulates the metabolism and attenuates possible accompanying symptoms such as telangiectasia, is particularly recommended. In addition, dietary measures can also alleviate the symptoms. Affected persons should pay attention to a balanced diet with all necessary vitamins and minerals. This can be supplemented by sporting activities and the avoidance of stress. Physiotherapy and yoga in particular are suitable for alleviating the typical symptoms while at the same time containing the physical tension associated with the disease. The typical skin changes can also be reduced with the help of care products from the pharmacy and various home remedies. However, visual changes usually remain, which should be worked up as part of a therapeutic consultation. If inferiority complexes or fears have already developed as a result of acrogeria, further psychological measures must be taken. Discussions with family members and friends can help work through the multifaceted symptoms of the disease and improve general well-being in the long term.
