Wrinkly Skin Syndrome

By | June 10, 2022

Wrinkly skin syndrome is thought to be a form of congenital cutis laxa of the Debré type and is associated with wrinkled skin, skeletal abnormalities, and facial malformations. A hereditary mutation was identified as the cause, which is also considered to be the cause of cutis laxa. So far, only symptomatic treatments have been available for therapy.

What is Wrinkly Skin Syndrome?

Various diseases of the connective tissue are summarized as cutis-laxa syndromes, which are associated with different accompanying symptoms and are caused by different mutations. The so-called wrinkly skin syndrome has significant similarities with cutis laxa of the Debré type, which is associated with more severe tissue changes, growth retardation and skeletal abnormalities. For definitions of lymphadenopathy, please visit topbbacolleges.com.

For this reason, the wrinkly skin syndrome is currently suspected to be a special form of cutis laxa. Some scientists even assume that Cutis laxa Debré and Wrinkly Skin Syndrome are two manifestations of the same condition. Only 30 cases have been described by the WSS so far. The symptom complex is assigned to hereditary diseases. Currently, the connection with cutis laxa is one of the main objects of research.


Wrinkly skin syndrome does not appear to occur sporadically. In the 30 cases described so far, a familial cluster could be observed, which is apparently based on an autosomal recessive inheritance. This inheritance is also the form of inheritance for cutis laxa syndrome type Debré. As with the cutis laxa syndromes, mutations are also considered to be the actual trigger for the wrinkly skin syndrome.

The causative genes have not yet been identified in all patients. Mutations in the ATP6V0A2 gene at gene locus 12q24.31 have been identified in some patients with WSS. Cutis laxa Debré is also caused by mutations in the same gene. Other patients showed mutations in the PYCR1 gene at locus 17q25.3 typical of ARCL2, GO or DBS.

Due to the small number of cases documented to date, it has not yet been conclusively clarified which connections the mutation is due to. A mutation can be caused, for example, by exposure to toxins during pregnancy, but also by an unbalanced diet or similar connections.

Symptoms, Ailments & Signs

The clinical symptoms of wrinkly skin syndrome usually manifest themselves in neonatal life. The symptoms reach their full extent at the latest in infancy. Like cutis laxa, wrinkly skin syndrome is primarily characterized by wrinkled skin on the backs of hands and feet, which causes an aged appearance. Affected individuals have a higher than average number of palmar and plantar ridges.

The abdominal skin can also be wrinkled. In addition to the dermal manifestations, there are bony manifestations in the form of multiple skeletal abnormalities. For example, the patient’s joints can be hyperextended. Congenital hip dislocation is common. The anterior fontanelle on the skull closes late, which is often associated with microcephaly. Delayed growth is already present in the prenatal phase.

Postnatally, growth retardation continues and is associated with delayed development. Facial dysmorphism is often associated with the symptoms. These dysmorphisms include a wide bridge of the nose, a downward-pointing palpebral fissure and hypertelorism. The clinical picture of the symptom complex is somewhat milder than in patients with cutis laxa, but nevertheless shows significant overlaps. Clinically, the wrinkly skin syndrome can also show similarities with the symptoms of geroderma osteodysplastica or patients with de Barsy syndrome.

Diagnosis & course of disease

The diagnosis of Wrinkly Skin Syndrome can be made by molecular genetic testing. A suspected diagnosis overtakes the doctor through visual diagnosis. If there is a mutation in the ATP6V0A2 gene at gene locus 12q24.31, the diagnosis is considered proven.

Since WSS is not associated with pathognomonic histological findings such as strong anomalies in the elastic fibers, it is relatively easy to differentiate between ARCL2 and ARCL1. In the case of mutations in the PYCR1 gene at locus 17q25.3, differentiation from other diseases is more difficult. The causative mutation determines the prognosis. The prognosis is best for mutations in the ATP6V0A2 gene.


Those affected by Wrinkly Skin Syndrome suffer from a number of different skin conditions. For this reason, this often leads to reduced self-confidence and sometimes to inferiority complexes. This can promote mental disorders or depression if patients are dissatisfied with their appearance or are ashamed of their bodies.

The quality of life of the affected person is significantly reduced and limited due to the wrinkly skin syndrome. Furthermore, scars can form on the skin, which can only be treated to a limited extent. These scars usually remain on the affected person’s skin for the rest of their lives. Wrinkly skin syndrome can lead to severe depression, bullying and teasing, especially in children.

The skin itself can be damaged very easily, so that those affected may suffer from a reduced life expectancy. The syndrome also significantly increases the likelihood of developing cancer. Since a causal treatment of the syndrome is usually not possible, only the individual symptoms can be treated. There are no complications. However, a complete cure is not possible.

When should you go to the doctor?

The birth of a human normally takes place in the company and support of medical professionals. In a routine process, the obstetricians carry out the initial examinations of the child immediately after delivery. Conspicuous features and irregularities are documented. Subsequently, if there are any peculiarities, medical treatments will be initiated. Parents and relatives therefore often do not have to become active in this phase, since it is a predetermined process. If nothing special about the health of the newborn is noticed immediately after delivery, the first abnormalities will appear within the next few weeks or months at the latest.

A doctor should be consulted if optical discrepancies can be perceived. If the baby’s appearance is unusual or if there are skin abnormalities, a doctor should be consulted. A pre-aged appearance is characteristic of the disease. For this reason, parents should initiate a doctor’s visit as soon as they notice optical abnormalities in their offspring. There is a need for action as soon as the infant shows abnormalities in direct comparison to peers of the same age.

If the growth is delayed, there is also a need for a doctor’s visit. Movement and locomotion disorders must be examined and treated. Since this genetic disease is a lifelong impairment, adequate health care should be initiated as early as possible.

Treatment & Therapy

There is no causal therapy for patients with Wrinkly Skin Syndrome. Although gene therapy approaches are currently the subject of medical research, they are not yet suitable for use on living people. Therefore, patients with the symptom complex currently have to be satisfied with symptomatic treatment of their complaints, which, after a breakthrough in gene therapy, may be replaced by causal therapy in the future.

The symptomatic treatment of the syndrome is similar to the treatment of cutis laxa. Cosmetic surgical interventions are not indicated for the syndrome. However, firming measures such as gymnastics, cold/warm showers or connective tissue massages can improve the complexion. The dysmorphism in the facial area does not necessarily have to be surgically corrected. Theoretically, however, surgical interventions in this area are conceivable.

Physiotherapeutic care and early support are recommended to counteract the developmental delays. Physiotherapeutic measures help to avoid overstretching of the joints through targeted muscle building. In this way, muscles can stabilize the joints under certain circumstances. Skeletal abnormalities may need to be corrected surgically.

This applies, for example, to the dislocation of the hip, which should be corrected in an operation. In this way, complications can be avoided. Without intervention by a surgeon, skeletal anomalies could, for example, promote arthrosis, which is usually caused by incorrect loading and misalignment.


The Wrinkly Skin Syndrome cannot be prevented so far, since many causal relationships have not yet been conclusively clarified, apart from the triggering gene mutation. Above all, the small number of documented cases does not provide sufficient support for research to identify causal factors or even preventive measures.


Since Wrinkly Skin Syndrome is a congenital and therefore genetic disease, it cannot usually heal on its own, so that the affected person is always dependent on examination and treatment by a doctor. The measures and the options for aftercare are usually significantly limited.

First and foremost, a rapid diagnosis should be made in order to prevent the occurrence of further symptoms and complications. If the affected person or parents wish to have children, genetic testing and counseling may be advisable to prevent the disease from recurring. Wrinkly skin syndrome is usually treated by means of physiotherapy or physiotherapy.

Those affected can repeat many of the exercises at home and thus speed up healing. Regular check-ups and examinations by a doctor are also very useful in order to monitor the symptoms permanently. Wrinkly skin syndrome usually does not limit the life expectancy of the person affected. Contact with other people affected by the disease can also be very useful, as it can lead to an exchange of information, which makes everyday life easier for those affected.

You can do that yourself

Those affected can sometimes treat wrinkly skin syndrome themselves. The conspicuous areas of skin on the arms and legs as well as on the face can be reduced with suitable creams and good skin care. Drinking enough fluids is also important to reduce wrinkled skin. The diet should be rich in vitamins and fiber and provide optimal support for the already weakened skin.

The various malformations are treated surgically and with physiotherapy. Physiotherapy can be supported at home with regular training. However, it is important to avoid strenuous physical activity, especially in the case of severe skeletal abnormalities such as the typical hip dislocation. In addition, the sick children need various medications, the intake of which must be closely monitored. Later on, therapeutic support can also be useful.

In children and adolescents, the external abnormalities and restricted mobility represent an increasing emotional burden and the patients need a contact person. This can be the specialist doctor or a self-help group. Early education with the help of child-friendly brochures that treat the wrinkly skin syndrome is important. The rare disease must be treated permanently and the accompanying measures must be planned for the long term.

Wrinkly Skin Syndrome