Hypotrichosis with juvenile macular dystrophy is an inherited disease that is present from birth. The condition is usually referred to by the abbreviation HJMD. Hypotrichosis with juvenile macular dystrophy is relatively rare. Its main symptoms are weak hair growth (medical term hypotrichosis), which is noticeable even in small children. In addition, there is a so-called macular dystrophy, which develops progressively.
What is hypotrichosis with juvenile macular dystrophy?
According to abbreviationfinder, the hair on the patient’s head is relatively weak. This symptom shows up either in newborn babies or a few months after birth.
Hypotrichosis with juvenile macular dystrophy only occurs with a very low frequency. The hair of the affected patients only grows sparsely and remains comparatively short because it falls out quickly. This symptom appears in the context of hypotrichosis with juvenile macular dystrophy together with macular degeneration. The disease leads to blindness in those affected.
The exact frequency of hypotrichosis with juvenile macular dystrophy is not yet known. The disease was first described in 1935, and since then about 50 people have been identified. However, estimates put the frequency at approximately 1 in 1,000,000.
Causes
Hypotrichosis with juvenile macular dystrophy is caused by a genetic defect. More precisely, it is a special mutation at a specific gene location. The corresponding gene is responsible for coding the substance P-cadherin. This substance is also found in the epithelium within the follicles of the hair.
In addition, the substance is also part of the epithelium of pigments on the retina of the eye. Basically, hypotrichosis with juvenile macular dystrophy is inherited in an autosomal recessive manner. The substance P-cadherin binds calcium. This plays an important role in the production of cell contacts in various organic tissues. The disease is also associated with a specific form of heterozygosity.
Symptoms, Ailments & Signs
Hypotrichosis with juvenile macular dystrophy shows various typical symptoms. The first characteristic is the sparse growth of hair. The hair on the patient’s head is relatively weak. This symptom shows up either in newborn babies or a few months after birth.
Even with increasing age of the affected patients, the hair on the head does not increase. In addition, there is an impairment of vision. This usually occurs between the first and third decade of life. The patient’s visual acuity is progressively reduced. The reason for this lies in macular degeneration, which progresses with age.
In numerous cases, this leads to the blindness of persons suffering from hypotrichosis with juvenile macular dystrophy. Blindness usually occurs between the second and fourth decades of life. Under certain circumstances, hypotrichosis with juvenile macular dystrophy is also associated with various deformities of the extremities. In such cases, the disease is also referred to by the abbreviation EEM.
Another characteristic of hypotrichosis with juvenile macular dystrophy is that the hair of the affected patients is relatively poor in pigment. The hair on other body regions is comparatively normal. Declining eyesight is also associated with a deterioration in the ability to read. Apart from these symptoms, patients develop normally. Their life expectancy is also average.
Diagnosis & course of disease
If the typical signs of hypotrichosis with juvenile macular dystrophy appear in a child, it is urgent to consult a doctor. An anamnesis is carried out together with the patient and, if necessary, their parents. The family history plays a particularly important role here, since hypotrichosis with juvenile macular dystrophy is a hereditary disease.
After the patient consultation, various clinical examination methods are used. The focus here is initially on the visible symptoms, for example the sparse hair on the head. In this way, a suspected diagnosis is already possible in many cases. In addition, the background of the eyes is examined, which degenerates in the context of hypotrichosis with juvenile macular dystrophy and shows abnormal pigmentation.
Special examinations serve as proof of the disruptions in functionality that show up at the so-called rear pole. In addition, examinations of the scalp and hair are possible, which indicate hypotrichosis with juvenile macular dystrophy. The differential diagnosis also plays an important role.
It is particularly important here to differentiate hypotrichosis with juvenile macular dystrophy from EEM syndrome. Because this disease is caused by a similar mutation. Hypotrichosis with juvenile macular dystrophy can usually be diagnosed before birth. Prenatal diagnosis is feasible if the triggering mutations are clear.
Complications
Hypotrichosis with juvenile macular dystrophy primarily leads to reduced hair growth. This has a negative effect on the patient’s appearance, which leads to feelings of shame and reduced self-confidence. It can also lead to inferiority complexes and depression.
Children often suffer from teasing and bullying because of their appearance. The hair on the head does not increase over the course of life. Hypotrichosis with juvenile macular dystrophy also leads to a reduction in vision, so that in the worst case the patient can become completely blind.
It is not uncommon for various deformations to occur on the patient’s extremities, which can lead to limitations in everyday life or restricted movement. The quality of life is severely limited by the symptoms of this disease. However, life expectancy is not reduced by the disease in most cases.
A causal treatment is not possible in this case. Only the symptoms of hypotrichosis with juvenile macular dystrophy can be treated and restricted, although a positive course of the disease cannot be guaranteed. It is not uncommon for parents or relatives to be affected by mental health problems and require appropriate treatment.
When should you go to the doctor?
If the hair loss persists for several weeks and more than 100 hairs fall out per day, a doctor should be consulted. The doctor can clarify the symptoms and determine whether hypotrichosis with juvenile macular dystrophy is actually the underlying cause. If this is the case, further treatment with medication is usually initiated immediately. A stay in hospital is usually not necessary. People should also see a doctor if they experience other symptoms such as skin irritation or scarring in the scalp area.
If bleeding, severe dandruff or pain on the scalp become noticeable, it is best to consult a doctor on the same day. Furthermore, medical advice is required if the symptoms increase despite drug treatment or the prescribed drugs cause strong side effects and interactions. Hair restorers in particular can cause various complaints, which is why the medication must be carefully adjusted in each case. If psychological problems develop as a result of the hypotrichosis, it is best to consult a therapist.
Treatment & Therapy
Hypotrichosis with juvenile macular dystrophy cannot be cured causally. The focus is on treating the symptoms in order to maintain the quality of life of the affected person as high as possible and to prevent damage as much as possible. Due to the impaired vision, the sick children usually attend special schools.
In the future, an improvement in the symptoms of hypotrichosis with juvenile macular dystrophy may be possible through genetic therapy approaches. In this way, the blindness of the patients could possibly be prevented.
Prevention
Hypotrichosis with juvenile macular dystrophy is a hereditary disease that is present from birth. For this reason, no options for preventing the disease have been researched and known at this time.
Aftercare
There is no causal cure for hypotrichosis with juvenile macular dystrophy, but those affected can make their lives more comfortable with follow-up care. It is important to prevent physical injuries. The eyesight of the sick children is often impaired.
Early treatment can slow down and perhaps even prevent the deterioration or blindness. The attending physician often involves the patient in the active therapy and aftercare. The children feel motivated by the doctor’s recommendations to consistently keep to the treatment appointments. In order to accept the restrictions in everyday life, psychotherapeutic support is advisable.
This type of aftercare is particularly important for patients with deformed limbs. Long-term support from psychological caregivers is just as helpful as targeted physiotherapy. Physiotherapy exercises maintain the patient’s mobility.
Comprehensive measures related to aftercare also help to participate in social life. This is an important point for the affected children as well as for the whole family. Self-help groups and special care facilities provide the necessary support and offer patients good opportunities to lead a relatively independent life.
You can do that yourself
First, patients with hypotrichosis with juvenile macular dystrophy realize that their life expectancy is not limited by the disease. The people affected achieve a quality of life that corresponds to the symptoms of the disease if they come to terms with the limitations of the disease. Certain visually striking features, such as sparse hair growth, can be concealed with wigs if the patients wish.
In order to prevent people from going blind or at least delay it, the patients are actively involved in the treatment of their eyesight. Timely medical intervention can slow down macular degeneration to a certain extent if the patients follow the ophthalmologist ‘s instructions and attend all treatment appointments.
Some of the patients have limb deformities that limit mobility. It is therefore recommended that those affected take part in physiotherapy with physiotherapy. Some exercises can also be performed at home by hypotrichosis patients with juvenile macular dystrophy. Due to the physical disabilities, the patients often attend special schools and appropriate care facilities, so that the affected persons are able to work with social care despite being unable to work. If the patient nevertheless suffers from an inferiority complex, psychological therapy is usually essential.
