Keratosis follicularis spinulosa decalvans is a congenital disease of the skin. Keratosis follicularis spinulosa decalvans is inherited and occurs extremely rarely. Sometimes the disease is 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?
Keratosis follicularis spinulosa decalvans basically occurs with a very low frequency. In this regard, the prevalence of the disease is estimated to be approximately 1:1,000,000. In the majority of cases, keratosis follicularis spinulosa decalvans affects males. The disease is inherited both autosomal-dominantly and X-linked recessively to offspring. In principle, keratosis follicularis spinulosa decalvans is a disease that affects the skin and develops in childhood in affected patients. Lameris described the disease of the skin for the first time, however, Siemens contributed significantly to the common name of the disease today. In the context of keratosis follicularis spinulosa decalvans, the affected individuals suffer from so-called keratinization abnormalities. These show up in areas characteristic for the disease, for example the face, the capillitium as well as the eyebrows. The thorax as well as the limbs are also affected by keratosis follicularis spinulosa decalvans in numerous cases. Far more rarely, the disease is associated with symptoms such as oligophrenia, dystrophies of the cornea, and so-called palmoplantar keratoses.
Causes
Patients suffer from keratosis follicularis spinulosa decalvans from birth, as it is a genetically caused inherited disease. The triggering factor of the disease is a specific type of gene mutation. Keratosis follicularis spinulosa decalvans is passed on to children either by X-linked or autosomal recessive inheritance. In the case of X-linked inheritance, mutations are present either on the SAT1 gene or the so-called MBTPS2 gene. In the case of the autosomal recessive inherited variant of keratosis follicularis spinulosa decalvans, the exact cause or causative mutation has not yet been investigated.
Symptoms, complaints, and signs
In association with keratosis follicularis spinulosa decalvans, patients present with a typical combination of disease complaints and symptoms. Shortly after the birth of the diseased individuals, the first eye complaints already appear. For example, the cornea is clouded. Furthermore, in the course of time, a so-called alopecia develops, which is accompanied by scarring. In 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 diffuse character and appears mainly in the area of the neck, the face as well as the backs of the hands. In contrast, hyperkeratosis does not spread to the fingernails, toenails or mucosa. In addition, individuals affected by keratosis follicularis spinulosa decalvans are photophobic in some cases and have facial erythema. In most cases, keratosis follicularis spinulosa decalvans resolves on its own when patients reach adulthood.
Diagnosis and course of the disease
The diagnosis of keratosis follicularis spinulosa decalvans is made by considering the typical symptoms of the disease. If a child develops corresponding symptoms, the parents or guardians first consult the attending pediatrician. As a rule, the pediatrician refers the patient to a specialist, such as a dermatologist. In an initial consultation with the patient, the doctor first investigates the signs of the disease, their onset and possible factors in their development. In the majority of cases, patients affected by keratosis follicularis spinulosa decalvans are young children, so that they contribute significantly to the medical history. Since keratosis follicularis spinulosa decalvans is a hereditary disease, the treating physician takes a particularly thorough family history. The clarifying patient interview is followed by various visual examinations.Because the symptoms of keratosis follicularis spinulosa decalvans are predominantly concentrated on the skin of the patient, the clinical examination is comparatively easy to perform. However, because the symptoms of keratosis follicularis spinulosa decalvans also occur in other diseases, diagnosis is still sometimes difficult. A genetic test, which identifies the gene mutations at the known gene loci, ultimately provides certainty about keratosis follicularis spinulosa decalvans. In addition, a differential diagnosis is required, with the physician primarily differentiating keratosis follicularis spinulosa decalvans from ulerythema ophryogenes and keratosis follicularis akneiformis, type Siemens. In addition, dermotrichia syndrome, also called IFAP syndrome, should be excluded.
Complications
In keratosis follicularis spinulosa decalvans, relatively severe limitations and complications of the patient occur immediately after birth. In most cases, this involves discomfort in the eyes. The affected persons cannot see sharply and suffer from a clouding of the cornea, which already occurs directly after birth. In the worst case, keratosis follicularis spinulosa decalvans can lead directly to blindness of the patient. Damage to the scalp and eyelashes also occurs. Skin complaints also occur in the face and the aesthetics of the patient are significantly reduced. As a result, it is not uncommon for the patient to experience reduced self-esteem or even inferiority complexes. In many cases, the parents are also affected by psychological upsets or depression. In many cases, keratosis follicularis spinulosa decalvans heals itself in adulthood. However, this cannot be guaranteed, so that no general prediction of the course of the disease is possible. The complaints and symptoms can be treated with the help of medication. Likewise, the discomfort of the eyes can be corrected. Further complications usually do not occur.
When should you see a doctor?
Since keratosis follicularis spinulosa decalvans is a condition that is already congenital, it does not need to be additionally diagnosed by a doctor, as the diagnosis usually takes place right after birth. Medical treatment is necessary when the patient develops various complaints of the eyes. The cornea can be clouded and the vision can be negatively affected. In the worst case, complete blindness may occur. Furthermore, in the case of keratosis follicularis spinulosa decalvans, a doctor should also be consulted if the disease leads to complaints on the scalp. In many cases, affected individuals suffer from photophobia and various facial complaints. Treatment of keratosis follicularis spinulosa decalvans is usually performed by different specialists. First of all, it is necessary to visit a general practitioner or a dermatologist. Life expectancy is not negatively affected by keratosis follicularis spinulosa decalvans.
Treatment and therapy
Keratosis follicularis spinulosa decalvans is mainly treated with external agents, alleviating some of the symptoms of the disease. For example, the active ingredient acitretin is used. In principle, the prognosis of keratosis follicularis spinulosa decalvans is comparatively positive. In the majority of cases, keratosis follicularis spinulosa decalvans is a self-limiting disease. Thus, between the ages of 20 and 30, keratosis follicularis spinulosa decalvans usually disappears on its own.
Outlook and prognosis
The prognosis of keratosis follicularis spinulosa decalvans is unfavorable. The disease is based on a chromosomal defect. Scientists and physicians are not allowed by current legal guidelines to make changes to a person’s DNA. For this reason, the cause of the disorder cannot be treated. In a medical treatment the care of the documented symptoms takes place. An improvement of the quality of life as well as a relief of the existing complaints are in the focus of the treating physician. Through the administration of medication, an improvement in the skin’s appearance is to be achieved.Nevertheless, drugs are associated with risks and side effects that must be considered within a treatment. If an initiated therapy is interrupted or stopped independently, a relapse of the existing complaints is to be expected. Overall, the skin condition worsens in most patients. Due to the visual conspicuousness of the disease, many affected persons complain about emotional and mental states of stress. Discomfort and a reduced quality of life are the consequences. In severe cases, psychological sequelae occur, which cause a further deterioration of the overall situation. If a psychological disorder is diagnosed in addition to keratosis follicularis spinulosa decalvans, long-term therapies are required. Alleviation of symptoms is possible, but can only be achieved with sufficient cooperation from the patient.
Prevention
Keratosis follicularis spinulosa decalvans is genetic, so no options for effective prevention are yet known.
Follow-up
Aftercare for genetic keratosis follicularis spinulosa decalvans focuses on, among other things, a better quality of life and increased self-confidence. In addition, patients desire relief from their symptoms and hope for a complete cure, which may actually occur. Therefore, the correct intake of the medication prescribed by the doctor is essential. In order to keep possible side effects and risks of these drugs as low as possible, regular control of the state of health is necessary. Furthermore, those affected should not forget that an interruption or independent termination of the therapy will most likely lead to a relapse. Patients feel emotionally burdened by the visible abnormalities. Depending on the sensitivity of those affected and on their personal situation, psychotherapeutic care may be advisable. If a psychological disorder is diagnosed, long-term therapy is due. In order to alleviate the skin complaints and optimize the quality of life, patients must cooperate and always adhere to the medical advice. In the best case scenario, the skin disorder will resolve itself by the age of 30 at the latest, without accompanying symptoms such as light hair or eye problems. However, young patients must sometimes expect that self-healing will not occur.
This is what you can do yourself
Patients with keratosis follicularis spinulosa decalvans have various options to help themselves and improve their personal quality of life. Basically, regular examinations with various medical specialists are significant to appropriately treat the various symptoms of keratosis follicularis spinulosa decalvans. The patient regularly visits the ophthalmologist and optometrist to diagnose changes in corneal opacity in time to prevent blindness. Some affected individuals suffer from photophobia and direct their activities according to their sensitivity to light. Depending on the degree of photophobia, proper protective clothing plays an important role. The alopecia associated with the disease is mainly a cosmetic problem for patients, often leading to inferiority complexes. If desired by the sufferer, high-quality wigs provide a remedy to conceal the deficient scalp hair. Keratosis follicularis spinulosa decalvans disappears on its own in some cases when patients reach adulthood. However, such self-healing is not guaranteed, so childhood and adolescent sufferers are prepared to continue to suffer from the disease later. In the case of depression or mental abnormalities, a psychotherapist looks after the patients. Such help is also sometimes useful for parents.
