Congenital Hypotrichosis- Symptoms, Causes, Complications, And Treatment

In general, hypotrichosis refers to the illness of congenital hair loss. Depending upon its time, it can be multifocal or regional, or general. The term is famous in the world of dermatology.

Unlike other hair problems like alopecia ( which is an illness of hair fall at initial stages and never growing back), hypotrichosis is a situation in which there is no hair growth since birth. Hypotrichosis stays until the entity.

A majority of scientists believe that the root cause of hypertrichosis is genetic defects or embryo aberration. Genetic hypotrichosis can be found in hundreds of different patterns, which not only concentrates genetic defects to hair but also hinders an individual's life via physical and mental illnesses.

Conditions such as Jeanselme and Rime hypotrichosis, Ofuji syndrome, Marie Unna hypotrichosis, cartilage-hair hypoplasia, Graham-Little syndrome, and metaphyseal chondrodysplasia and many other diseases also possess symptoms of hypotrichosis.

Genetic patterns can be complicated to understand and more complex to comprehend the reasons how hair loss or other diseases are connected to genetic aberration. Furthermore, it is the same reason why there is no specific treatment known to treat hypotrichosis.

Here are some of the types of Congenital hypotrichosis that are rare but quite common among other patterns:

1. Congenital Aplasia or Aplasia cutis congenita:

   It is a genetic defect where the fetus is not able to develop a part of the skin. The infant may be born with a patch of skin with the resemblance of an open wound or an ulcer.

   Usually, it infects the back of the scalp which is known as a whorl pattern of hair growth. The skin will scab over time and leave a small scar. This can also happen in the fetal stage and at the time of birth, a visible patch of the scalp will appear with no hair follicles.

   On the other hand, if an infant is born with a large patch, it usually requires surgery to detach the affected area and close up the wound in the scalp. It is better to treat and cure the wound as soon as possible as it can be a potential hemorrhage or an infection.

   This happens because:

   The hair follicles mechanism works on a chemical reaction between two cell types named:

   • Modified keratinocytes:

     Which are responsible for the formation of outer skin epithelium.

   • Modified fibroblasts:

     Also known as dermal papilla cells.

   Now to have a normal hair growth cycle, these two cell groups must communicate to each other via biochemical signals. The chemical reaction ensures natural hair growth in an individual. But to do so, cells must stay close enough to build and maintain constant contact with each other, and a single cell population is not compatible to grow hair without receiving signals from the other cells.

   Although the theory of hair follicle mechanism needs more research, scientists till now believe that it can be the only possible reason for unusual genetic hair loss.

   In the case of congenital hypotrichosis, the hairless infected patch has a broken communication of Modified keratinocytes and Modified fibroblasts, which leads to a patch at the back of the child’s head.

2. Triangular Alopecia or alopecia triangularis:

   The condition is quite identical to the first one, it usually occurs in a triangular patch of skin over the temple since childbirth. In a few cases, skin fails to grow hair follicles in that triangular patch.

   Unlike aplasia cutis congenital, the patch does not show any signs of open ulcers. The affected area can be surgically implanted with the donor's hair follicles.

3. Congenital Atrichia or Papular Atrichia:

   A unique condition of the hair loss where the baby was not born with a patch, yet somehow lost all the hairs at the early stages of childhood and never grew back again.

   Surprisingly, It was the first human hair loss that was discovered in the world of congenital hair loss. Researchers examine that it was caused by only a single gene defect.

   This is because the hair follicle's mechanism enters in a state of telogen or at rest in the early stages of childhood. The two cell types mainly Modified keratinocytes and Modified fibroblasts get separated somehow.

   While the disease is historically running in the families, it is a gene defect that can develop in a fetus without any genetic footprint.

4. Causes and Symptoms associated with the disease:

   Since the root cause of the disorder is a genetic aberration, it can be detected with some self-diagnosis and medical examinations:

   • The root cause of the hair fall is genetic, so there's a probability that your offspring might develop the same.
   • From the time of delivery to the later stages of life, the child will not show any sign of hair growth of the head, eyebrows, and skin. Or in the case of Triangular Alopecia the unusual hair fall of the child within one year of birth.
   • The disease can also be detected during the time of pregnancy where ultrasounds and blood tests determine the growth of a child with or without healthy skin.
   • In the case of Congenital Aplasia or Aplasia cutis congenital, one can diagnose a patch on the fetus head with abnormal growth of skin ulcers and wounds.
   • In other cases like Triangular Alopecia and Congenital Atrichia, your general pediatrician or gynecologist can detect abnormal hair growth by detecting the hair follicles mechanism through MRI scans.

Since the root cause of the disorder is a genetic aberration, it can be detected with some self-diagnosis and medical examinations:

• The root cause of the hair fall is genetic, so there's a probability that your offspring might develop the same.
• From the time of delivery to the later stages of life, the child will not show any sign of hair growth of the head, eyebrows, and skin. Or in the case of Triangular Alopecia the unusual hair fall of the child within one year of birth.
• The disease can also be detected during the time of pregnancy where ultrasounds and blood tests determine the growth of a child with or without healthy skin.
• In the case of Congenital Aplasia or Aplasia cutis congenital, one can diagnose a patch on the fetus head with abnormal growth of skin ulcers and wounds.
• In other cases like Triangular Alopecia and Congenital Atrichia, your general pediatrician or gynecologist can detect abnormal hair growth by detecting the hair follicles mechanism through MRI scans.

If we talk in terms of individual families without any medical history or family history related to the same, the worldwide probability of receiving this genetic abnormality is estimated at 1 in 10,000 individuals.

Since the genetic defaults start from the fetal stage of life, Congenital hypotrichosis has the potential to stay throughout your life.

Surprisingly, the human species are not the only ones suffering from this genetic aberration, animal species like dogs and cats or even horses also possess the same.

It can be shown as a patch of skin or a fully hairless body. In the case of horses, Congenital hypotrichosis is extremely rare, anecdotal, and sketchy.

Yes, not only hair loss affects an individual on a psychological level but also on physical and neurological levels as well. Since Congenital hypotrichosis is related to an individual genetic modulation, loss of hair growth can also affect their neurological senses.

Since the key role of body hair is to protect your skin from external bacteria and threats, in case of permanent hair loss the skin is exposed to a variety of skin diseases. It not only makes it more vulnerable but also sensitive and high maintenance.

Also, all the hair follicles of the body are surrounded by sensory nerves which help the nervous system to collect information from different parts of the body.

Permanent loss of hair can decay the sensory nerves of the body making it difficult for an individual to feel a low-frequency sensation of their surroundings.

Physical aspects of hair loss are more than the neurological ones! Body hair is also responsible for protecting an individual from different threats like:

1. Sunburn:

   Without normal hair, the skin gets exposed to the UV rays of the sun making the skin burn and lead to different illnesses like skin cancer.

2. External bacteria and infection:

   Before a bacteria could reach an individual skin, hair collects it all by creating a protective barrier. The absence of hair can make the skin more susceptible to catch bacterial and fungal infections.

3. Temperature imbalance:

   Hair is responsible to keep our temperature in check. During winters it traps the body head to make an individual warm. On the other hand during high temperatures, the pores of the hair produce sweat which cools the skin and protects it from burns.

4. Psychological effects:

   Hair and be a crucial part of an individual personally. The patient might feel insecure not because of the hair fall but also due to the stereotypical measures of a perfect human being.

   It can also alter their personality, depending upon their overall upbringing and social life, the effect of permanent baldness and hairless body can be taken in both negative and positive ways.

   Most patients prefer to cover the baldness with either artificial hair or hair transplant which creates an illusion like normal hair. Although, it does not stop an individual from any life experience the sense of baldness will keep making them feel hindered.

Congenital hypotrichosis is a genetic default and researchers and scientists are still looking for a solution for the unfortunate hair loss that doesn't have a cure.

Even if the illness doesn’t have a cure, the diseases associated with it can be cured easily with precautions and early detection. In case of any skin-related disease, a patient is advised to cover their head beforehand to prevent it from external bacteria and UV rays.

Psychological factors associated with baldness may resolve with counseling or connecting to a support group. Support groups are small gatherings of individuals sharing the same or different psychological problems.

Also, friends and family of the patient need to make them comfortable and wanted, in most cases, hair loss may make an individual aloof and socially impaired.

No, none of the lifestyle changes may cure the genetic default of an individual, however, it is not a bad idea to keep a healthy and balanced lifestyle. It will help the patient to build an immune system against the side effects caused by permanent hair loss.

Scalp massage and daily exercise can help the skin to have a regular blood flow in the hairless area making it immune against skin infection and burns. It also keeps you fit and keeps you away from any obesity-related disease. A healthy diet might also keep the blood healthy making it more healthy and strong.

One can seek advice from a physicist to keep the hormone level at an optimal balance as per your requirements.

Yes, all types of hypotrichosis are born through faulty genes. It is one of the rarest diseases in which body hair will not be present within one year. Depending upon the genetic pattern, the hair loss can be restricted to permanent patches and goes up to full body hair loss.

Since scientists are not able to discover any medication or procedure to alter genetic defaults. Congenital hypotrichosis is considered to be chronic, as it affects an individual throughout their life.

At the same time, the diseases that are caused by an absence of hair can be cured with available medical treatments. Diseases associated with hair loss can be treated very effectively with early detection and diagnosis.