Kindler syndrome is a dermatosis and is one of the hereditary photodermatoses. The light-sensitive skin reacts with blistering. Patients are treated with photoprotective measures and, in acute cases, with pricking of the individual blisters, although the blister canopy should be preserved to protect against infection.
What is Kindler syndrome?
The disease group of bullous dermatoses includes various disorders with a primarily dermal manifestation. One such disorder is Kindler syndrome. In 1954, the disease was described for the first time. The physician Theresa Kindler is considered to be the first describer. A second discussion of the syndrome was made by P. Weary in 1971. Kindler syndrome is extremely rare in its prevalence. Since its initial description, only slightly more than 100 cases have been documented worldwide. One cluster was in an ethnic tribe in the province of Bocas del Toro near the Caribbean coast of Panama. The syndrome belongs to the hereditary photodermatoses and is thus associated with a hereditary basis, which explains the familial clustering. Apparently, an autosomal recessive inheritance underlies the dermatosis.
Causes
The primary cause of Kindler syndrome is genetics. Apparently, a mutation is responsible for the complex of symptoms. The causative mutation is located on chromosome 20 in gene locus 20p13, affecting the so-called KIND1 gene. This gene codes in the DNA for the so-called Kindlin-1 protein. Due to the mutation, affected individuals can no longer express Kindlin-1. Kindlin-1 consists of 677 amino acids and corresponds to an intracellular cytoskeletal linker protein. Basal keratinocytes as well as polarization and proliferation of cells depend on the protein. The aforementioned processes are subject to significant perturbations in the deficiency or absolute absence of Kindlin-1 expression. For this reason, a large percentage of cells initiate cell death. All symptoms of Kindlin syndrome can be traced back to this connection.
Symptoms, complaints, and signs
Patients with Kindler syndrome suffer from a complex of dermal symptoms. This complex includes postpartum blistering that predominantly affects patients’ hands and feet. The skin of affected individuals is dry and looks slightly scaly. In addition, the pigmentation of the affected persons is disturbed. This disorder can correspond to both hypopigmentation and hyperpigmentation. In most cases, the above symptoms are associated with atrophies of the skin, which is basically abnormally photosensitive and thus shows hyperreactivity to UV radiation. In addition, patients of Kindler syndrome often suffer from gingival hemorrhages or develop periodontal disease already in adolescence. In some cases, the disease additionally manifests itself in mucosal erosions or pathological fissures in the genital and anal intimate areas. Furthermore, accompanying symptoms such as urethral stenosis or phimosis can often be observed. Because of extreme photosensitivity, Kindler syndrome patients also tend to develop squamous cell carcinomas during their lifetime. Symptoms of the syndrome are associated with a course that leads to remission with age.
Diagnosis and disease progression
Physicians may develop an initial suspicion of Kindler syndrome in newborns. Even at this stage of life, the disease manifests as blistering of the skin. The hyper- or hypopigmented skin of the patients is usually dry and scaly. Also, dermal atrophy and fragility may occur immediately after birth. Thus, a first tentative diagnosis of the syndrome is made by the physician more or less by eye diagnosis based on the clinically relevant symptoms. To confirm the tentative diagnosis, he or she usually consults the electron microscope, which makes basement membrane interruptions and individual branching visible. Molecular genetic analysis may be used to confirm the diagnosis. In general, 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 these occur. In the course, the symptoms of Kindler syndrome often regress. However, the risk of cancer remains.
Complications
As a result of Kindler syndrome, in most cases, patients suffer from severe discomfort, mainly of the skin.The skin is covered by many vesicles and there is a reduced aesthetic appearance. Furthermore, there is also an increased sensitivity to light, which can lead to relatively severe limitations in life. Due to the blisters, it is not uncommon to experience inferiority complexes or decreased self-esteem. Those affected often no longer feel beautiful and may suffer from depression or other psychological complaints. Furthermore, it is not uncommon for pigmentation disorders to occur, leading to hyperpigmentation. 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. Kindler syndrome is treated with the help of medications and skin care products. Symptoms can be limited, although not completely removed. Life expectancy is usually not reduced by Kindler syndrome.
When should you see a doctor?
If the skin appearance is abnormal, a doctor should be consulted to determine the cause. Blistering on the upper layer of the skin due to photosensitivity, is considered unusual and should be examined by a doctor. If open wounds appear on the body as a result of opening the blisters, a doctor should be consulted. Without sterile wound care, there is a risk of further illness, which in severe cases can be fatal. Kindler syndrome can occur in infants, children and adults. If affected individuals suffer from severely dry or scaly skin, they require medical care. Peculiarities of pigmentation are other clues that indicate an abnormality and need to be investigated. Affected individuals of the male sex often suffer from a narrowing of the urethra as well as the foreskin. Therefore, if discomfort occurs during urination or sexual activity, a visit to the doctor is advisable. Since patients with Kindler syndrome have an increased risk of skin cancer, they should always attend annual check-ups of their skin condition. 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 region, pain when sitting or during locomotion, and increased sensitivity of the anal region of the body, should be presented to a physician.
Treatment and therapy
Treatment of Kindler syndrome is symptomatic. Because of its genetic basis, no causative treatment options are available, and the disease is considered incurable to date. Acute treatment of the syndrome is similar to the therapy of all light dermatoses. Conservative steps such as medication with topical glucocorticoids and antihistamines may be considered. Patients are advised to use effective photoprotection 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 light protection measures with the fewest side effects. Chemical photoprotectants used to absorb UV light keep radiation away from living cell layers. Physical light protection agents are also considered, such as pigments made of iron oxide or zinc oxide. In addition, the therapy emphasizes the activation of the body’s own light protection mechanisms. In this context, phototherapy before the start of the sunny season is particularly worthy of mention. Individual symptoms of Kindler syndrome can be treated surgically, for example, any adhesions. However, mechanical irritation and irritation of the skin must be avoided as far as possible to prevent blistering. Secondary infections of the syndrome are mainly monitored and treated only after a certain period of time. The use of antiseptic solutions such as a quinolinol solution is recommended to patients. Blisters are sterilely lanced and deflated to prevent expansion and to induce pressure relief. The bladder roof is left in place to protect against infection.
Outlook and prognosis
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. Freedom from symptoms or recovery is not achieved due to the current guidelines. The disease is associated with a number of serious impairments in everyday life. The high photosensitivity of the affected person makes it difficult to participate in social and community life and to fulfill professional obligations. In addition, patients are at increased risk of developing cancer. Therefore, the syndrome with its complaints as well as the resulting consequences represents a heavy burden for the affected person. Depending on their severity, the individual symptoms are treated by the attending physician in a long-term therapy. Regular check-ups are necessary even in times when the patient does not experience any deterioration in health. In many cases, additional emotional care is necessary to prevent a psychological secondary disease from developing due to the emotional impairment. If a cancer disease breaks out, the prognosis deteriorates considerably. In addition to cancer therapy, in most cases the patient’s life expectancy is shortened due to the tumor formation as well as the spread of the cancer cells. The changes of the skeletal system are corrected in surgical procedures in the best possible way.
Prevention
To date, the only way to prevent Kindler syndrome is through genetic counseling during family planning.
Follow-up care
In most cases, no special aftercare measures are available to the affected person with Kindler syndrome. For this reason, a physician should be consulted at the first signs and symptoms of Kindler syndrome to prevent further worsening of symptoms. In this disease, there is also no independent cure, and the symptoms often worsen if no treatment is initiated. Most patients are dependent on taking various medications for this disease. Here, it is always important to ensure that the medication is taken regularly and also the correct dosage in order to alleviate the symptoms permanently and correctly. In case of any uncertainties or questions, a doctor should always be consulted first. If the symptoms of Kindler syndrome are treated by surgery, it is advisable for the affected person to rest and take care of his or her body after the procedure. 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.
What you can do yourself
Some complaints of Kindler syndrome can be limited by self-help measures and the patient’s quality of life can be significantly improved as a result. Since the skin of the affected person 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 Kindler’s syndrome also causes blisters to form, they should be popped and deflated. To avoid infection and inflammation in the process, sterile solutions should always be used to wash away the wound. As a rule, this procedure can also be carried out by the affected person himself or by relatives. After lancing, the application of antiseptic solutions is also recommended. However, the bladder roof itself should not be removed, as it often serves as a protection against infection. Furthermore, Kindler’s syndrome can also lead to psychological discomfort or inferiority complexes, so talking to one’s partner or parents and friends can be very helpful in this regard. Contact with other patients can also have a positive effect on the course of the disease, as this often leads to an exchange of information.
