Hypotrichosis with juvenile macular dystrophy is an inherited condition 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 a weak hair growth (medical term hypotrichosis), which is already noticeable in young children. In addition, there is a so-called macular dystrophy, which develops progressively.
What is hypotrichosis with juvenile macular dystrophy?
Hypotrichosis with juvenile macular dystrophy occurs with only a very low frequency. The hair of affected patients grows sparsely and remains comparatively short as it falls out rapidly. This symptom appears in the context of hypotrichosis with juvenile macular dystrophy together with macular degeneration. The disease results in blindness of the affected individuals. The exact incidence of hypotrichosis with juvenile macular dystrophy is not yet known. The disease was first described in 1935, with approximately 50 affected individuals identified since that time. However, estimates are an approximate incidence of 1:1,000,000.
Causes
The cause of hypotrichosis with juvenile macular dystrophy is due to a genetic defect. More specifically, it is a specific mutation at a specific gene locus. The corresponding gene is responsible for the coding of the substance P-cadherin. This substance is also found in the epithelium within the follicles of the hair. In addition, the substance is also a component of the epithelium of pigments on the retina of the eye. Basically, hypotrichosis with juvenile macular dystrophy has an autosomal recessive mode of inheritance. The substance P-cadherin binds calcium. This plays an important role in the establishment of cell contacts in various organic tissues. The disease is also associated with a specific form of heterozygosity.
Symptoms, complaints, and signs
Hypotrichosis with juvenile macular dystrophy presents with several typical symptoms. First, the sparse hair growth is characteristic. The patients’ scalp hair is relatively sparse. This symptom appears either already in newborn babies or a few months after birth. Even with increasing age of the affected patients, the head hair does not increase. In addition, there is an impairment of vision. This usually appears between the first and third decade of life. The patients’ visual acuity is increasingly reduced. The cause of this is macular degeneration, which progresses with increasing age. In numerous cases, this leads to blindness in those suffering from hypotrichosis with juvenile macular dystrophy. Blindness usually occurs between the second and fourth decades of life. Hypotrichosis with juvenile macular dystrophy may also be 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 affected patients is relatively poor in pigment. The hair on other parts of the body is comparatively normal. Decreasing vision 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 and disease progression
If a child shows the typical signs of hypotrichosis with juvenile macular dystrophy, a physician should be consulted urgently. A medical history is taken together with the patient and, if necessary, his or her parents. Especially the family history plays an important role, because hypotrichosis with juvenile macular dystrophy is a hereditary disease. After the patient interview, various clinical examination methods are used. Here, the focus is initially on the visible symptoms, for example the sparse hair on the head. In this way, a tentative diagnosis is already possible in numerous 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 are used as evidence of the functional disorders that appear at the so-called posterior pole.In addition, scalp and hair examinations are possible, indicating hypotrichosis with juvenile macular dystrophy. Furthermore, differential diagnosis plays an important role. It is particularly important to distinguish hypotrichosis with juvenile macular dystrophy from EEM syndrome. This is 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 causative mutations are unique.
Complications
Hypotrichosis with juvenile macular dystrophy primarily results in decreased hair growth. This has a negative effect on the patient’s appearance, resulting in feelings of shame and decreased self-esteem. Furthermore, inferiority complexes and depression may result. It is not uncommon for children to suffer teasing and bullying because of their appearance. The hair on the head does not increase in the course of life. Hypotrichosis with juvenile macular dystrophy also causes a decrease in vision, so that in the worst case complete blindness of the patient can occur. It is also not uncommon for various deformities to occur in 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 limited, but no positive course of the disease can be guaranteed. It is not uncommon that the parents or relatives are also affected by psychological complaints and require appropriate treatment.
When should one go to the doctor?
If 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. Hospitalization is usually not necessary for this. The affected person should also consult a physician if other symptoms occur, such as skin irritation or scarring in the area of the scalp. If bleeding, severe dandruff or pain is noticeable on the scalp, it is best to consult a doctor on the same day. Furthermore, medical advice is required if the complaints increase despite drug treatment or if the prescribed drugs cause strong side effects and interactions. Hair growth medications in particular can cause various complaints, which is why the medications must be well adjusted in any case. If psychological complaints arise as a result of hypotrichosis, it is best to consult a therapist.
Treatment and therapy
Hypotrichosis with juvenile macular dystrophy cannot be cured causally. Thus, therapy of the symptoms is the main focus in order to maintain the quality of life of affected individuals as high as possible and to prevent damage as much as possible. Due to the impaired vision, the affected children usually attend special schools. In the future, it may be possible to improve the symptoms of hypotrichosis with juvenile macular dystrophy by genetic therapy approaches. In this way, blindness of the patients could possibly be prevented.
Prevention
Hypotrichosis with juvenile macular dystrophy is a hereditary disease that exists from birth. For this reason, no options for prevention of the disease have been researched or known at this time.
Follow-up
There is no causative cure for hypotrichosis with juvenile macular dystrophy, but as part of follow-up care, affected individuals can make their lives more comfortable. Prevention of the physical damage is important. Frequently, vision is impaired in children with the disease. An early therapeutic approach can slow down the deterioration or blindness and perhaps even prevent it. The treating physician often involves the patients in active therapy and aftercare.The medical recommendations motivate the children to keep the treatment appointments consistently. In order to accept the restrictions in everyday life, psychotherapeutic support is advisable. This type of aftercare plays a relevant role especially for patients with malformed limbs. The long-term support of psychological caregivers is just as helpful as targeted physiotherapy. Physiotherapy exercises help patients maintain their mobility. Comprehensive measures in connection with follow-up treatment 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.
Here’s what you can do yourself
First, patients with hypotrichosis with juvenile macular dystrophy realize that their life expectancy is not limited by the disease. Affected individuals achieve a quality of life commensurate with the symptoms of the disease by coming to terms with its limitations. Certain visually striking features, such as sparse hair growth, can be concealed by means of wigs if the patients so desire. In order to avoid or at least delay blindness, the patients actively participate in the treatment of their vision. With timely medical interventions, macular degeneration can be slowed down to a certain extent if the patients comply with the ophthalmologists’ instructions and attend all treatment appointments. Some of the patients have deformities of the limbs, which are associated with limitations in mobility. Therefore, it is recommended that the patients attend physical therapy with physiotherapy. Some exercises can also be performed at home by the patients with hypotrichosis with juvenile macular dystrophy. Due to the physical disabilities, the patients often attend special schools and appropriate care facilities, so that employment with social care is possible for the affected persons despite their inability to work. If patients nevertheless suffer from inferiority complexes, psychological therapy is usually essential.