KFSD stands for Keratosis follicularis spinulosa decalvans which is a congenital skin disease. Keratosis follicularis spinulosa decalvans is inherited and extremely rare. The disease is sometimes referred to as Siemens I syndrome or keratosis pilaris decalvans. Keratosis follicularis spinulosa decalvans was first described by Lameris in 1905.
What is keratosis follicularis spinulosa decalvans?
Overall, the complexion worsens in most patients. Due to the visual abnormalities of the disease, many sufferers complain about emotional and psychological stress. See AbbreviationFinder for abbreviations related to KFSD.
Keratosis follicularis spinulosa decalvans generally occurs with a very low frequency. The prevalence of the disease is estimated to be around 1:1,000,000. In the majority of cases, males are affected by keratosis follicularis spinulosa decalvans. The disease is inherited in offspring in both an autosomal dominant and X-linked recessive manner.
In principle, keratosis follicularis spinulosa decalvans is a disease that affects the skin and develops in the affected patients as early as childhood. Lameris was the first to describe the disease of the skin, but Siemens made a significant contribution to the disease’s name, which is common today. In the context of keratosis follicularis spinulosa decalvans, the affected persons suffer from so-called cornification anomalies.
These appear in areas characteristic of the disease, such as the face, scalp and eyebrows. The thorax and the limbs are also affected in numerous cases by the cornifications of the keratosis follicularis spinulosa decalvans. Much less frequently, the disease is accompanied by symptoms such as oligophrenia, corneal dystrophies and so-called palmoplantar keratoses.
Causes
Patients suffer from keratosis follicularis spinulosa decalvans from birth because it is a genetically caused hereditary disease. The causative factor of the disease is a certain type of gene mutation. Keratosis follicularis spinulosa decalvans is passed on to children either on an X-linked or autosomal recessive inheritance path.
In the case of X-linked inheritance, there are either mutations in the SAT1 gene or the so-called MBTPS2 gene. In the case of the autosomal recessive variant of keratosis follicularis spinulosa decalvans, the exact reason or the causative mutation has not yet been researched.
Symptoms, Ailments & Signs
In connection with the keratosis follicularis spinulosa decalvans, the patients show a typical combination of signs and symptoms. Shortly after the birth of the sick person, the first eye problems appear. For example, the cornea is clouded.
In addition, a so-called alopecia develops over time, which is accompanied by scarring. In the context of keratosis follicularis spinulosa decalvans, alopecia primarily affects the eyelashes and eyebrows as well as the hair on the head. In addition, the affected patients suffer from follicular hyperkeratosis, which is of a diffuse character and is particularly evident in the area of the neck, face and backs of the hands.
On the other hand, hyperkeratosis does not spread to the fingernails and toenails or the mucous membrane. In addition, individuals affected by spinulosa decalvanic keratosis follicularis are sometimes photophobic and have facial erythema. Keratosis follicularis spinulosa decalvans usually resolves on its own by the time patients reach adulthood.
Diagnosis & course of disease
The diagnosis of keratosis follicularis spinulosa decalvans is made by considering the typical symptoms of the disease. If a child develops such symptoms, the parents or guardians first consult the treating pediatrician. As a rule, he refers the patient to a specialist doctor, for example a dermatologist.
In an initial consultation with the patient, the doctor first explores the existing signs of the disease as well as their onset and possible factors in their development. In the majority of cases, the patients affected by the keratosis follicularis spinulosa decalvans are small children, so that they make a significant contribution to the anamnesis of those having custody. Since keratosis follicularis spinulosa decalvans is a hereditary disease, the doctor treating you takes a particularly thorough look at the family history.
Various visual examinations follow the clarifying discussion with the patient. Because the symptoms of keratosis follicularis spinulosa decalvans are predominantly concentrated on the patient’s skin, the clinical examination is comparatively easy to carry out. However, since the symptoms of keratosis follicularis spinulosa decalvans also occur in other diseases, the diagnosis is sometimes difficult.
Certainty about the keratosis follicularis spinulosa decalvans is ultimately a genetic onetest, which identifies the gene mutations at the known gene loci. In addition, a differential diagnosis is required, whereby the doctor primarily differentiates the keratosis follicularis spinulosa decalvans from the ulerythema ophryogenes and the keratosis follicularis acneiformis, type Siemens. Besides, that is dermotrichie syndrome, also called IFAP syndrome, must be ruled out.
Complications
In the case of keratosis follicularis spinulosa decalvans, the patient experiences relatively severe limitations and complications immediately after birth. In most cases, this causes problems in the eyes. Those affected cannot see clearly and suffer from clouding of the cornea, which occurs immediately after birth. In the worst case, the keratosis follicularis spinulosa decalvans can also lead directly to the blindness of the patient.
Damage to the scalp and eyelashes also occurs. Skin complaints also occur on the face and the aesthetics of the patent are significantly restricted. This often leads to reduced self-esteem or inferiority complexes. In many cases, the parents are also affected by mental disorders or depression.
In many cases, keratosis follicularis spinulosa decalvans self-heals in adulthood. However, this cannot be guaranteed, so that no general prediction of the course of the disease is possible. The discomfort and symptoms can be treated with the help of medication. The discomfort in the eyes can also be corrected. Other complications usually do not arise.
When should you go to the doctor?
Since keratosis follicularis spinulosa decalvans is a congenital disease, it does not have to be additionally diagnosed by a doctor, since the diagnosis usually takes place immediately after birth. Medical treatment is necessary when the patient develops various eye problems.
The cornea can be clouded and vision can be negatively affected. In the worst case, it can even lead to complete blindness. Furthermore, a doctor should also be consulted for keratosis follicularis spinulosa decalvans if the disease causes problems on the scalp.
In many cases, those affected suffer from photophobia and various facial disorders. The treatment of keratosis follicularis spinulosa decalvans is usually carried out by different specialists. For the time being, a visit to a general practitioner or a dermatologist is necessary. Life expectancy is not negatively affected by keratosis follicularis spinulosa decalvans.
Treatment & Therapy
Keratosis follicularis spinulosa decalvans is mainly treated with external agents, which alleviate some of the symptoms of the disease. For example, the active ingredient acitretin is used. In principle, the prognosis for keratosis follicularis spinulosa decalvans is comparatively positive.
Because in the majority of cases, keratosis follicularis spinulosa decalvans is a so-called self-limiting disease. Between the ages of 20 and 30, the keratosis follicularis spinulosa decalvans usually disappears by itself.
Outlook & Forecast
The prognosis of keratosis follicularis spinulosa decalvans is unfavorable. The disease is based on a chromosomal defect. The current legal requirements do not allow scientists and medical professionals to make changes to a person’s DNA. For this reason, the cause of the disorder cannot be treated.
In medical treatment, the documented symptoms are treated. Improving the quality of life and alleviating the existing symptoms are the focus of the attending physician. Medication is intended to improve the appearance of the skin. Nevertheless, medicines are associated with risks and side effects that must be taken into account during treatment. If an initiated therapy is interrupted or ended independently, a recurrence of the existing symptoms is to be expected.
Overall, the complexion worsens in most patients. Due to the visual abnormalities of the disease, many sufferers complain about emotional and psychological stress. Discomfort and reduced quality of life are the consequences. In severe cases, there are psychological sequelae that further worsen the overall situation. If a mental disorder is diagnosed in addition to the keratosis follicularis spinulosa decalvans, long-term therapies are required. It is possible to alleviate the symptoms, but this can only be achieved with sufficient cooperation from the patient.
Prevention
Keratosis follicularis spinulosa decalvans is genetically determined, so no options for effective prevention are known.
Aftercare
In the follow-up care of the genetically caused keratosis follicularis spinulosa decalvans, among other things, a better quality of life and increased self-confidence are in the foreground. In addition, patients want relief from their symptoms and hope for complete healing, which can actually take place. That is why it is essential to take the medication prescribed by the doctor correctly.
In order to keep any side effects and risks of these drugs as low as possible, regular health checks are necessary. Furthermore, those affected should not forget that an interruption or independent termination of therapy leads to a high probability of a relapse. The patients feel emotionally burdened by the visible abnormalities.
Depending on the sensitivity of those affected and their personal situation, psychotherapeutic care may be advisable. If a mental disorder is diagnosed, long-term therapy is required. In order to alleviate skin discomfort and improve quality of life, patients must cooperate and always follow medical advice. In the best case, the skin disease will go away on its own by the age of 30 at the latest, without side effects such as thinning hair or eye problems occurring. However, young patients sometimes have to reckon with the fact that self-healing will not occur.
You can do that yourself
Patients with keratosis follicularis spinulosa decalvans have various options to help themselves and to improve their personal quality of life. In principle, regular examinations by various medical specialists are important in order to adequately treat the various symptoms of keratosis follicularis spinulosa decalvans.
The patient visits the ophthalmologist and optician regularly in order to diagnose changes in the corneal opacity in good time and to counteract blindness. Some sufferers suffer from photophobia and adjust their activities according to their sensitivity to light. Depending on the degree of photophobia, the right protective clothing plays an important role.
The alopecia associated with the disease is mainly a cosmetic problem for the patient, which often leads to inferiority complexes. If desired by the patient, high-quality wigs can help to conceal the lack of hair on the head. Keratosis follicularis spinulosa decalvans resolves on its own in some cases by the time patients reach adulthood. However, such self-healing is not guaranteed, so that children and young people with the disease are prepared to suffer from the disease later on. In the case of depression or psychological problems, a psychotherapist looks after the patients. This kind of help is sometimes useful for parents too.
