Cutis-laxa syndrome is a complex of skin disorders that can be both hereditary and acquired and are associated with wrinkled and wrinkled skin. The clinical pictures are completely different. Only the hereditary cutis laxa disorders will be described below.
What is cutis laxa syndrome?
Cutis laxa syndrome characterizes a variety of conditions involving wrinkled and puckering skin. Cutis laxa comes from Latin and means sagging skin. Thus, all of the disorders exhibit sagging and wrinkled skin. The acquired forms of these diseases are called dermatochalasis. In the following, the hereditary cutis laxa forms will be described. Although there is a large number of mutations and chromosomal changes, the frequency of these diseases is not very high. One in a million people suffers from the so-called congenital cutis laxa syndrome. So far, only about 200 patients have been described. As already mentioned, it is not a uniform disease. The main feature of this syndrome complex is sagging skin. All other symptoms depend on the particular genetic defect. The individual diseases are classified according to the type of genetic defect or according to the clinical appearance. Thus, there are autosomal recessive diseases with the abbreviation ARCL. ARCL are in turn classified according to the location of the affected gene and according to the clinical presentation. Furthermore, there are autosomal dominant diseases ADCL. There are also x-linked cutis laxa forms. Furthermore, some separate types with complex malformations are also mentioned.
Causes
Congenital cutis laxa syndromes are caused by gene defects on different chromosomes. As mentioned earlier, there are autosomal recessive, autosomal dominant, x-linked inheritances, and disorders with complex inherited defects. In autosomal recessive diseases ASCL there is a further division into ASCL of type 1 and ASCL of type 2. ASCL 1 is the cutis laxa syndrome with the most severe course. ASCL 1 also includes ASCL 1A, ASCL 1B, and ASCL 1C. ASCL 1C is characterized by involvement of the lungs, digestive tract, and urinary tract with severe complications. Type 2 ARCLs often have additional joint instability and developmental delays. The courses are somewhat milder than in type 1 ARCL. The autosomal dominant form of cutis laxa syndrome ADCL usually has a somewhat milder course. However, hernias, valvular defects, emphysema, or diverticula may occur. The x-linked cutis laxa syndromes XRCL are similar in appearance to type 2 ARCL. Furthermore, there are special forms of cutis laxa syndromes with complex malformations such as cutis laxa marfanoid syndrome, MACS syndrome, Sakati-Nyhan syndrome, or Scarf syndrome.
Symptoms, complaints, and signs
The symptoms of scarf syndromes are varied. The main symptom is always sagging and wrinkled skin. The course and prognosis of the disease vary. For example, ARCL 1 always leads to death due to complex malformations of the internal organs. This type is characterized by generalized connective tissue disease with excess and drooping skin, emphysema, vascular anomalies, and intestinal diverticula. Approximately 60 cases have been described with this form of the disease. Other forms of this syndrome often have a much milder course and quite normal life expectancy.
Diagnosis
Accurate diagnosis of the disorders is often very difficult because of the clinical overlap of various symptoms. For examination, an intensive family history is first taken. Furthermore, this includes intensive physical examination, imaging studies, histologic examinations, skeletal examinations, liver function tests, renal examinations, and cardiac examinations. Differential diagnoses include Ehlers-Danlos syndromes, Williams syndrome, pseudoxanthoma elasticum, Hutchinson-Gilford syndrome, Barber-Say syndrome, Costello syndrome, cardiofaciocutaneous syndrome, and Kabuki syndrome. Acquired forms of CL must also be considered. Accurate hereditary diagnosis is also important to provide human genetic counseling to affected families. Direct DNA testing can also be performed. This is useful in families in which cases of cutis laxa disease have already occurred.
When should you see a doctor?
Since cutis laxa syndrome can have a very negative effect on a patient’s appearance, it should definitely be examined by a physician. The complaints and symptoms can vary significantly, but those affected suffer from sagging and especially wrinkled skin. Therefore, if these symptoms suddenly appear, a doctor must be consulted. Furthermore, the cutis laxa syndrome can also be associated with a malformation of the internal organs, so that the affected person can die in the worst case. In this case, examinations of the internal organs are necessary to determine any damage. Excess skin may also indicate cutis laxa syndrome and should be examined. The initial examination and diagnosis is usually made by a dermatologist. Since there is no causal treatment for this condition, treatment is always based on symptoms. Especially the damage of the internal organs can be corrected by different specialists. The skin symptoms can also usually be corrected by surgical procedures.
Treatment and therapy
Treatment of cutis laxa syndrome depends on the nature of the condition. Treatment can only be symptomatic. Causative therapy is not possible for the congenital forms of the disease. Surgical correction of the skin is also not performed in the congenital forms of the disease complex. The reason is that the connective tissue has a defect that cannot be corrected even surgically. The important thing is the symptomatic treatment of the respective accompanying symptoms in order to save life or improve the quality of life. Therapy may involve the joints, bones, heart, liver, kidneys or digestive tract. Each organ is surrounded by connective tissue, so generalized connective tissue weaknesses can cause dysfunction in almost all organs. There are also diseases of this type that require very little treatment. Many cutis laxa syndromes are also associated with bone changes. A relatively mild form is the so-called geroderma osteodysplastica, which can be easily distinguished from the other forms of this disease circle by the generalized osteoporosis. Apart from the skin changes, only the osteoporosis is of greater importance here, but it can be treated well. The life expectancy of this disease is normal.
Outlook and prognosis
As a rule, no general prediction can be made about the further course of the disease in cutis laxa syndrome. However, self-healing does not occur in this disease, so affected individuals are always dependent on medical treatment. In addition to the skin complaints, there is also serious damage to the internal organs, which in the worst case can lead to the death of the patient. The further course of the disease thus also depends very much on the extent of this damage. The skin is wrinkled and drooping due to the cutis laxa syndrome, so that many affected persons also suffer from reduced aesthetics. In most cases, however, the skin conditions are not surgically corrected because it is usually not possible to correct the defective connective tissue. Therefore, affected individuals must live with the skin conditions for the rest of their lives. Damage to the organs or bones must be corrected in order to increase the life expectancy of the affected person. In severe cases, transplants are also necessary. In some cases, the organs are hardly affected by cutis laxa syndrome, so that no treatment is necessary in this case. Possibly the life expectancy of the patient is limited by the Cutis-laxa syndrome. This is especially the case if there are malformations or organs, so that cutis laxa syndrome cannot be completely cured.
Prevention
To prevent cutis laxa disorders, it is important to know the exact genetic cause. On this basis, human genetic counseling can then be performed. However, it is often difficult to find out the exact type of the disease. Family histories can help if corresponding diseases are known within the relatives. By knowing the genetic type, the mode of inheritance can be inferred and competent human genetic counseling can be provided.
Follow-up
In cutis laxa syndrome, very few measures of aftercare are available to affected individuals. Since it is a hereditary disease, it also cannot be completely cured.If the patient wishes to have children, genetic counseling is highly recommended to prevent the syndrome from recurring in the children. Cutis laxa syndrome does not negatively affect the life expectancy of the affected person, but it can significantly reduce the quality of life. With this disease, the affected person is also dependent on regular examinations and check-ups by a doctor in order to monitor the symptoms permanently and properly. In most cases, the symptoms can only be alleviated by the use of creams, so that sufferers are usually dependent on lifelong therapy. Attention should be paid to regular use and also to the correct dosage of these products. Surgical procedures are not usually performed for cutis laxa syndrome. Since the disease can also lead to depression or other psychological upsets, loving and intensive conversations with one’s own family or friends are often very helpful. In this context, contact with other people affected by the syndrome can also have a positive effect on the course of the disease.
What you can do yourself
People who have cutis laxa syndrome can, in many cases, lead a relatively symptom-free life. In the positive-onset form, recovery is very likely, and the most important self-help measure is limited to having regular progress checks. This ensures that the disease does not recur or that therapy can be initiated directly in the event of a relapse. Patients should also maintain a healthy lifestyle. Exercise and a balanced diet improve the skin’s appearance in the long term and thus also contribute to better mental health. Foods such as whole grains, fruits and vegetables have proven to be beneficial, because they not only help the skin, but the entire organism. In addition, cutis laxa syndrome often requires further operations. These are best accompanied by rest and sparing for the sufferer. Due to the high risk of complications, the doctor in charge will usually give specific tips and rules of conduct. These must be strictly adhered to in order to avoid health problems during the treatment. Should complications nevertheless become apparent, the doctor in charge must be informed of this immediately in any case.
