According to abbreviationfinder, KS stands for Kindler syndrome. Kindler syndrome is a dermatosis and is one of the hereditary photodermatoses. The light-sensitive skin reacts by forming blisters. The patients are treated with sun protection measures and, in acute cases, with the individual blisters being pricked out, whereby the blister roof should be retained to protect against infection.
What is Kindler Syndrome?
The doctor can develop a first suspicion of Kindler syndrome even in newborns. Even in this phase of life, the disease manifests itself in blistering of the skin.
The disease group of bullous dermatoses includes various diseases with a mainly dermal manifestation. One such condition is Kindler syndrome. The disease was first described in 1954. The doctor Theresa Kindler is considered to be the first to describe it. A second discussion of the syndrome comes from P. Weary in 1971. Kindler syndrome is extremely rare in its prevalence.
Since the first description, only a little more than 100 cases have been documented worldwide. One cluster was in a tribe in the province of Bocas del Toro near the Caribbean coast of Panama. The syndrome is one of the hereditary photodermatoses and is therefore associated with a hereditary basis, which explains the familial accumulation. Apparently, the dermatosis is based on an autosomal recessive inheritance.
Causes
The primary cause of Kindler syndrome lies in genetics. A mutation seems to be responsible for the complex of symptoms. The causative mutation is on chromosome 20 in gene locus 20p13 and thus affects the so-called KIND1 gene. This gene takes over the coding for the so-called Kindlin-1 protein in the DNA. Due to the mutation, the affected individuals can no longer express Kindlin-1.
Kindlin-1 consists of 677 amino acids and corresponds to an intracellular cytoskeletal linker protein. Both the basal keratinocytes and the polarization and proliferation of cells depend on the protein. The processes mentioned are subject to considerable disruption in the event of a deficiency or the absolute absence of Kindlin-1 expression. For this reason, a large proportion of cells initiate cell death. All symptoms of the children’s syndrome can be traced back to this connection.
Symptoms, Ailments & Signs
Patients with Kindler syndrome suffer from a complex of dermal symptoms. This complex includes postpartum blistering that primarily affects the patient’s hands and feet. The skin of those affected is dry and looks slightly scaly. In addition, the pigmentation of those affected is disturbed. This disorder can correspond to both hypopigmentation and hyperpigmentation.
In most cases, the symptoms mentioned are associated with atrophy of the skin, which generally reacts abnormally to be photosensitive and thus shows hyperreactivity to UV radiation. In addition, patients with Kindler syndrome often suffer from gingival bleeding or develop periodontal disease in adolescence. In some cases, the disease also manifests itself in mucosal erosions or pathological fissures in the genital and anal intimate area.
In addition, accompanying symptoms such as urethral stenosis or phimosis can often be observed. In addition, because of extreme photosensitivity, patients with Kindler syndrome tend to develop squamous cell carcinoma over the course of their lives. The symptoms of the syndrome are associated with a course that leads to remission with age.
Diagnosis & course of disease
The doctor can develop a first suspicion of Kindler syndrome even in newborns. Even in this phase of life, the disease manifests itself in blistering of the skin. The hyper- or hypopigmented skin of patients is usually dry and scaly. Dermal atrophy and fragility can also occur immediately after birth.
The doctor makes an initial suspected diagnosis of the syndrome more or less by visual diagnosis based on the clinically relevant symptoms. To confirm the suspected diagnosis, he usually consults the electron microscope, which makes basal membrane interruptions and individual branches visible. A molecular genetic analysis is conceivable to confirm the diagnosis.
As a rule, patients with Kindler syndrome have a normal life expectancy. Since the risk of skin cancer and squamous cell carcinoma is increased, the prognosis worsens when they occur. The symptoms of Kindler syndrome often recede over time. However, the risk of cancer remains.
Complications
In most cases, patients with Kindler syndrome suffer from severe symptoms that mainly affect the skin. The skin is covered with many blisters and the aesthetics are reduced. Furthermore, there is also an increased sensitivity to light, which can lead to relatively severe limitations in life. The blisters can often lead to inferiority complexes or reduced self-esteem.
Those affected often no longer feel beautiful and can suffer from depression or other psychological complaints. Furthermore, it is not uncommon for pigment disorders and thus hyperpigmentation to occur. However, this is not dangerous and does not lead to any particular complications. Due to the increased sensitivity to light, the affected person must use various creams and ointments to prevent irreversible consequential damage to the skin.
The risk of skin cancer is significantly increased by Kindler syndrome. Treatment of Kindler syndrome is carried out with the help of drugs and skin care products. The symptoms can be limited, but not completely eliminated. Life expectancy is usually not reduced by Kindler syndrome.
When should you go to the doctor?
In the case of abnormalities in the complexion, a doctor should be consulted to clarify the cause. Blistering of the top layer of skin due to photosensitivity is considered unusual and should be evaluated by a doctor. If the opening of the blisters causes open wounds on the body, a doctor should be consulted. Without sterile wound care, there is a risk of further diseases, which in severe cases can be fatal. Kindler syndrome can occur in infants, children, and adults.
Those affected suffer from severely dry or scaly skin and need medical care. Peculiarities of pigmentation are additional clues that indicate a discrepancy and need to be investigated. Affected males often suffer from a narrowing of the urethra and the foreskin. If you have problems urinating or during sexual activities, it is advisable to consult a doctor. Since patients with Kindler syndrome have an increased risk of skin cancer, they should always have annual skin check-ups.
If existing moles, pigments or other prominent skin conditions change, a doctor should be consulted. Repeated bleeding of the gums or paradontosis also indicate irregularities that should be examined by a doctor. Irregularities in the anal area, pain when sitting or moving and increased sensitivity of the anal body region should be presented to a doctor.
Treatment & Therapy
Treatment of Kindler syndrome is symptomatic. Due to its genetic basis, no causal treatment options are available and the disease has so far been considered incurable. The acute treatment of the syndrome corresponds to the therapy of all light eruptions. Conservative steps such as medication with topical glucocorticoids and antihistamines can be considered.
Patients are advised to use effective sun protection as a preventive measure. UV exposure should be avoided as unnecessary exposure to the sun can promote skin cancer. Clothing offers protection in moderation and is one of the most effective sun protection measures with the fewest side effects. Chemical light protection agents for absorbing UV light hold back the radiation from living cell layers.
Physical light stabilizers are also possible, such as pigments made from iron oxide or zinc oxide. In addition, the therapy emphasizes the activation of the body’s own photoprotection mechanisms. The main measure to be mentioned in this context is phototherapy before the start of the sunny season. Individual symptoms of Kindler syndrome can be treated surgically, such as any adhesions.
However, mechanical stimuli and irritation of the skin must be avoided as far as possible in order to avoid blistering. Secondary infections of the syndrome are mainly monitored and only treated after a certain time. Patients are advised to use antiseptic solutions such as quinolinol solution.
Bladders are punctured and emptied sterilely to prevent expansion and to relieve pressure. The blister roof remains to protect against infection.
Outlook & Forecast
The prognosis of Kindler syndrome is unfavorable. The cause of the disease is a mutation of the genes. Scientists and researchers are not allowed to change these for legal reasons. Therefore, symptomatic treatment of the patient takes place. A freedom from symptoms or recovery is not achieved due to the current requirements. The disease is associated with a number of serious impairments in everyday life. The high sensitivity to light of those affected makes it difficult to participate in social and community life and to fulfill professional obligations. Patients also have an increased risk of developing cancer. Therefore, the syndrome with its symptoms and the resulting consequences represents a heavy burden for those affected.
Depending on their severity, the individual symptoms are treated by the attending physician in long-term therapy. Regular check-ups are also necessary at times when the patient is not experiencing any deterioration in health. In many cases, emotional support is also necessary to ensure that the mental impairment does not result in any subsequent mental illness.
If cancer breaks out, the prognosis worsens considerably. In addition to cancer therapy, the life expectancy of the patient is shortened in most cases due to tumor formation and the spread of cancer cells. The changes in the skeletal system are corrected as best as possible in surgical interventions.
Prevention
So far, Kindler syndrome can only be prevented in the form of genetic counseling during family planning.
Aftercare
In most cases, those affected with Kindler syndrome do not have any special aftercare measures available. For this reason, a doctor should be consulted as soon as the first signs and symptoms of Kindler syndrome appear, so that the symptoms do not worsen further. It is also not possible for this disease to heal on its own, although the symptoms often worsen if no treatment is initiated.
Most patients with this disease are dependent on taking various medications. It is always important to take it regularly and also to pay attention to the right dosage in order to relieve the symptoms properly and permanently. If anything is unclear or you have any questions, you should always consult a doctor first.
If the symptoms of Kindler syndrome are treated by surgery, it is advisable for those affected to rest after the operation and take care of their bodies. Physical exertion or other stressful activities should be avoided. Help and support from the family can also have a positive effect on the further course of Kindler syndrome.
You can do that yourself
Some of the symptoms of Kindler syndrome can be reduced through self-help measures, thereby significantly improving the patient’s quality of life.
Since the affected person’s skin is sensitive to light, it should always be protected from direct sunlight. The patient must therefore always wear protective clothing or sunscreen to protect the skin. If blisters also form as a result of Kindler syndrome, they should be punctured and emptied. Sterile solutions should always be used to wash the wound to avoid infection and inflammation. As a rule, this process can also be carried out by the person concerned or by relatives. After piercing, the application of antiseptic solutions is also recommended. However, the blister roof itself should not be removed, as it often serves to protect against infection.
Furthermore, the Kindler syndrome can also lead to psychological problems or inferiority complexes, so that talking to your partner or to your parents and friends can be very helpful. Contact with other patients can also have a positive effect on the course of the disease, since this often leads to an exchange of information.
