It is a connective tissue disease that is genetically determined. The dominant symptom of the disease is flaccid skin. The essence of this ailment is the abnormal structure of the gene for the protein elastin or type 5 fibulin.
It also happens that the acquired skin laxity is not genetically determined. The disease may appear after penicillin administration or as a result of inflammatory changes in the skin.
Symptoms of congenital skin laxity
The main symptom of the disease is skin thinning and its excessive laxity. Affected people have visible, drooping folds of skin, which give their bodies a senile appearance. The most visible folds of skin are where there is little body fat. This may be the area around the eyelids, earlobes, and neck. But they are also visible on the abdomen and around the neckline. The skin is loose and can be gripped with the fingers. Unfortunately, disturbances in the functioning of connective tissue also affect the condition of internal organs. People with congenital laxity are also often diagnosed with emphysema or bronchiectasis. Both diseases contribute to the impairment of the respiratory system. There are also a number of ailments from the digestive system. These include diverticula and rectal prolapse.
The most serious consequence of congenital skin laxity, however, is the increased risk of developing aneurysms.
Diagnosis
The diagnosis of congenital skin laxity is based mainly on the typical clinical picture, i.e. the presence of symptoms characteristic for this group of patients. Often, a skin section taken from the patient is also examined. The microscopic image shows a shortage of elastic fibers and their disintegration. It is also necessary to check whether skin laxity has developed after the use of drugs or is not a consequence of skin conditions. It should be checked whether the flaccidity is caused by the Ehlers-Danlos syndrome – a genetically determined disease characterized by excessive elasticity of the skin and joints. People suffering from this syndrome can flex their fingers, elbows and shoulder joints in unbelievable ways.
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What treatment?
So far, no method has been developed that allows to eliminate a genetic defect, i.e. the cause of congenital skin laxity. A patient with this syndrome must undergo regular checkups (including chest x-rays, spirometry) so that the doctor can recognize the onset of emphysema or bronchodilation in a timely manner. It is also important to avoid infections, and if they do occur, do not treat them on your own, only under the supervision of a doctor. Congenital skin laxity is an incurable disease, but its course can be controlled. If the patient carries out the so-called hygienic lifestyle, does not smoke, does not stay in smoky rooms, is not overweight, the disease – in itself – does not interfere with normal functioning. Young people can also play sports recreationally.
Tekst: Anna Jarosz