This congenital skin disorder is known by the medical term Netherton syndrome. However, the correct name is Comèl Netherton syndrome. This name is attributed to the first describers, Marcell Comèl and Weldon Netherton. Colloquially, this hereditary disease is also called bamboo hair syndrome. Characteristic features include allergic hypersensitivity, bamboo hair as a result of an abnormality of the hair shaft, and skin features typical of psoriasis.
What is Netherton syndrome?
This hereditary skin disorder Netherton syndrome is also known as bamboo hair syndrome. The main feature is trichorrhexis invaginata, an abnormality of the hair shaft that makes the hair look like bamboo cane. Other characteristic features are atopic symptoms, which are manifested by a specific form of allergic hypersensitivity and include various associated symptoms. Another clinical symptom of Netherton syndrome is congenital ichthyosiform erythroderma in the form of scaled, red, and pruritic skin that appears at birth. Accompanying symptoms are often allergic reactions in the form of asthma.
Causes
Netherton syndrome is an autosomal recessive skin disorder that occurs at birth. This means that both parents carry altered genetic material that they pass on to their child. However, they themselves do not have to be affected, it is sufficient that they are carriers of the genetic defect, which consequently does not occur in every generation. SPINK5 mutations have been identified as the cause of this hereditary disease, which leads to a severely disturbed barrier function of the skin. The natural protective function of the skin is disabled. This hereditary disease occurs extremely rarely and has been described only 2,000 times so far. For this reason, a conclusive diagnosis is often difficult.
Symptoms, complaints, and signs
Characteristic symptoms are red, itchy, and inflamed skin areas that can appear all over the body in the form of skin eczema and atopic dermatitis. Clinical features of this disease are knotty, blunt, spiky as well as brittle hair on the head. Eyelashes and eyebrows often fall out and do not grow back correctly. Many infants and young children with Netherton syndrome develop associated allergic symptoms such as asthma, hay fever, food intolerances, and conjunctivitis. Affected children show delayed growth, short stature and developmental delay. In some cases, an intellectual deficit is added. Another clinical symptom is impaired amino acid metabolism with increased urinary excretion. Complications can occur in the form of severe infections, diarrhea, and decreased nutrient utilization.
Diagnosis and course of the disease
The final diagnosis is an immunohistochemical finding accompanied by various physical examinations. With these findings, the causative SPINK5 mutations are reliably established on the basis of LEKTI detection. If Netherton’s snydrome is detected only neonatally, immediate action is indicated. If the initial suspicion is confirmed, the dermatologist obtains information on the family history of the disease. Genetic counseling is offered to the parents. In order to establish Netherton syndrome beyond doubt, both parents are subjected to DNA testing. If the findings are confirmed before the child is born, the attending physician performs a prenatal diagnosis. Blood analyses and other laboratory values can also provide information. Prior to final findings, a differential diagnosis must be made to rule out other infantile erythroderma and similar dermatitis disorders. Netherton syndrome accompanies affected patients throughout their lives, but the hair and skin changes lose their severity over time. In many cases, the growth disorders and developmental delays begin to recede after the second year of life. However, symptoms remain that require regular treatment and care. Newborns with life-threatening complications have an unfavorable prognosis, usually confirmed by a high mortality rate.
Complications
Because of Netherton syndrome, patients suffer from various skin conditions.In many cases, these have a very negative effect on the psyche of those affected, so that most patients also suffer from inferiority complexes or significantly reduced self-esteem. The skin is reddened and can also be affected by an unpleasant itching. Furthermore, the hair of the affected person is also very brittle, so that hair loss may occur. As a rule, most patients also suffer from various intolerances due to Netherton syndrome. Conjunctivitis can also occur more easily due to the syndrome, while continuing to complicate the daily life of the affected person. The child’s growth is delayed and mental underdevelopment also occurs. As a rule, the children then require special care and are dependent on the help of other people in their lives. However, the life expectancy of the affected person is not affected by Netherton syndrome. A causal treatment of this disease is usually not possible. For this reason, therapy is aimed primarily at reducing the individual symptoms. In this process, no complications usually occur.
When should one go to the doctor?
If family members have already been diagnosed with Netherton syndrome, a genetic test can be performed on the offspring. This provides information about the presence of the disease and allows early intervention and the timely preparation of a treatment plan. Changes in the appearance of the skin are a characteristic feature of the disease. If there is itching, redness of the skin or inflamed areas, a doctor is needed. Care should be taken with open wounds. The child’s parents should ensure that the wound is sterile, otherwise sepsis may occur. Since this is a potentially life-threatening condition, a doctor should be consulted as soon as there are any changes or abnormalities in the wound. If various food intolerances become apparent, or if there is hay fever, a runny nose, reddened eyes or breathing problems, a visit to the doctor is necessary. In the event of acute respiratory distress, an ambulance must be alerted and first aid measures taken. Otherwise, there is a risk of premature death of the affected person. Diarrhea, a noisy digestion or a general feeling of illness are further signs of a health impairment and should therefore be investigated. If there is increased urination, a doctor should be consulted. If a growing child shows developmental delays, these should be discussed with a physician. If there are learning deficits, poor physical growth or behavioral problems, clarification is indicated.
Treatment and therapy
An adequate understanding of the disease and close cooperation between the treating dermatologist and the parents of the affected child help to reduce complaints and symptoms. It is essential to follow the instructions of the treating physician. For symptomatic treatment, dermatologists prefer to use urea for topical application to treat the red, inflamed and itchy skin areas. Urea is a component of many medical ointments for the treatment of atopic dermatitis as well as the well-known wound and healing ointment. Topical immunomodulators such as tacrolimus and pimecrolimusaus have proven helpful in local therapy. However, they are not suitable for long-term therapy because they are systematically absorbed due to the defective protective function of the skin. In the long term, the diseased skin areas are treated with emollients, which are contained in cosmetic and medical ointments as refatting agents. These are lipophilic (fat-soluble) substances that soften the skin. Lactic acid and ammonium lactate can be equally effective in combating skin complaints. An important part of the therapy is the observance of certain care measures by the parents, who must provide the main care for their infant or young child on a regular basis. This includes certain medical care products such as soaps, shampoos, and moisturizers, as normal care products can aggravate the allergic skin conditions. Furthermore, ointments and tinctures should be applied regularly to the affected skin areas. In addition to urea, these medicines often contain cortisone as one of the most successful drugs for treating inflamed skin areas, neurodermatitis and other forms of psoriasis.Since the symptoms and discomfort diminish over time but never disappear completely, patients can self-treat if they are old enough. Certain factors that aggravate this condition, for example a food allergy, should be eliminated immediately. It is sufficient to eliminate the allergy-causing foods from the menu.
Outlook and prognosis
The prognosis and course of Netherton syndrome are variable and are based on the symptom pattern of the first episode of the disease. Some patients suffer symptoms only in infancy; in others, chronic skin diseases such as ichthyosis linearis circumflexa develop during the first months of life and can take a severe course. Children who suffer from life-threatening complications shortly after birth have an unfavorable prognosis. Many newborns die from the disease in the first months of life. The earlier Netherton syndrome is detected and treated, the better the chance of recovery. The typical skin and skin lesions become less severe as the child ages. The failure to thrive also largely recedes. If the course of the disease is positively influenced by means of symptomatic treatment, the patients can lead a largely symptom-free life. Provided the acute episode of Netherton’s syndrome is overcome, the symptoms recede between the second and third year of life. From then on, the children develop normally. In a positive course, life expectancy is not limited. The quality of life is also not noticeably reduced. However, the skin changes remain permanent and can cause psychological problems in adolescence and adulthood, which must be treated.
Prevention
Because this condition is a direct result of a gene mutation, prevention in the classic sense is not possible.
Follow-up care
Because Netherton syndrome is a genetic disease, it usually cannot be completely cured. Affected individuals are therefore dependent on medical evaluation and treatment to prevent further complications or other medical conditions from developing. An early diagnosis usually always has a very positive effect on the further course of the disease. However, in the case of Netherton syndrome, if the parents wish to have children again, genetic testing and counseling should be performed to prevent the recurrence of the syndrome. The treatment itself is carried out by using various creams and ointments. Attention should be paid to correct dosage and regular use of the creams. In case of any uncertainties or side effects, a doctor should be consulted first. Furthermore, affected persons should take part in regular examinations by a doctor in order to detect skin complaints at an early stage. It is not uncommon for those affected to need psychological support in order to prevent depression and other psychological complaints. Netherton syndrome does not usually reduce or limit the life expectancy of the affected person.
Here’s what you can do yourself
Once Netherton syndrome has been diagnosed, parents must first follow the doctor’s instructions. Since the condition can cause many symptoms and complaints, a comprehensive clarification of the clinical picture is essential for treatment and any accompanying measures. In principle, strict personal hygiene applies to the treatment of Netherton syndrome. Affected children can be treated with medical care products as well as with a number of effective natural remedies from specialized shops. Effective alternative remedies include preparations containing aloe vera, sage and other soothing medicinal plants. The affected child must also undergo behavioral therapy, which is best supported by the parents through constant monitoring. If complications such as dehydration or superinfection occur, the physician must be called in. Parents should talk to the medical professional about therapeutic counseling to help them cope with the emotional pressure that comes with raising an affected child. Last, support from friends and relatives is also important. Parents can do a lot themselves to help their child and themselves, but should always discuss this with the medical professional first.
