Pachyonychia Congenita: Causes, Symptoms, Complications, And Treatment

Pachyonychia congenita (PC) can be described as a genetic disorder that affects the growth of your hair, nails, and skin. It is a rare inherited condition that can only be transferred through parents or any close blood relative.

Mutation in any or all of the gene which is PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17 can lead to pachyonychia congenita. Affected individuals started to have abnormal fingernails and toenails may be thickened and oddly shaped.

Summary: Pachyonychia congenita is a condition that hampers the growth of hair, nails, and skin. A person starts witnessing the signs and symptoms of this disease in the first few years of its occurrence. The disease is still incurable as no specific treatment is available.

Here is the list of symbols that may help an individual to diagnose Pachyonychia Congenita:

• Thickened nails
• Plantar hyperkeratosis with underlying blisters
• Plantar pain
• Sores at the corner of the mouth
• Steatocystoma and pilosebaceous cysts
• Follicular hyperkeratosis
• Leukokeratosis
• Palmar hyperkeratosis
• Natal teeth
• Intense pain while eating or swallowing

Symptoms: The symptoms start appearing in the initial years of their occurrence. It primarily affects the growth of nails, hair, and skin.

Mutation in KRT6A, KRT6B, KRT6C, KRT16, and KRT17 genes is the root cause of the Pachyonychia Congenita. These are the genes responsible for the management of keratin which can be found in nails, hair, and some parts of the skin.

This mutation can happen through genetics. This disease is known as an autoimmune disease ( a medical condition where an individual’s immune system attacks the healthy human cells). So the mutation in any of the genes can hamper the growth and distribution of keratin leading to an abnormality in skin, nails, and hair.

Summary: The main cause behind Pachyonychia Congenita is the rapid mutation of genes that are responsible for the management of keratin which is usually found in nails, hair, and some part of the skin.

The nature of Pachyonychia Congenita is quite expressive. One can see the symptoms on the surface without any medical diagnoses. Your medical professional will start with the same by physical examination, followed by your medical history and family background.

The second section of the diagnosis includes a genetic testing registry which helps the doctor to detect the presence of a mutation in PC-K6a, PC-K6b, PC-K6c, PC-K16, or/and PC-K17 gene.

Summary: The disease is diagnosed by carefully examining the medical history of a person along with the family background. For this, one needs to consult an expert who can detect the disease on time.

Genetic disorders of this sort are not only hard to prevent but currently impossible to cure. However, one can have a thoro diagnosis before making any decision associated with family planning, or pregnancy in general.

Summary: Pachyonychia Congenita is incurable due to the unavailability of treatment. The genetic nature of the disease is the main reason behind this.

Consult your doctor in case you see one or more symptoms that are associated with Pachyonychia Congenita. Even though there is no specific treatment plan designed to treat this medical condition. Many treatments focusing on each problem are generally recommended. The treatment may include medication, therapy, and other treatments to decrease the discomfort and pain.

Summary: Contact your medical professional immediately when you notice the first few signs and symptoms of Pachyonychia Congenita.

Diseases like Pachyonychia Congenita do not go away on their own. It can cause a critical life situation if not treated on time.

There is no method to treat genetic mutation in a human body. However, many methods of treatment can ease out the damage caused by the genetic mutation. In the case of Pachyonychia Congenita trimming of excess nails, and hair is recommended under the supervision of a medical professional.

Summary: The disease can’t be cured or treated because it is a genetic disorder. However, trimming of nails is generally recommended to avoid discomfort.

None of the foods can cure the genetic mutation, however, keeping a healthy diet with all the vital nutrients is important for a happy and healthy lifestyle.

Food items that include any form of keratin should be avoided in order to decrease any chance of a flare-up.

There is no specific list of side effects that can be mentioned. This is because medications that are prescribed for genetic mutations are given to control or manage the damage of the disease. These can vary like elements that may or may not create any side effects in a person.

Summary: The side effects of the treatment may depend on the type of medication your doctor prescribed you alongside the treatment that your doctor is using to treat the medical condition.

Yes, if the surface symptoms match, it is advised to seek medical help as soon as possible for early detection and treatment. If not controlled or managed on time, it can cause a critical life situation which can also lead to permanent damage to the body or even death.

Summary: One needs to consult the medical professional if Pachyonychia Congenita signs and symptoms start appearing. This will help in the early detection of the disease.

Since it is a rare medical condition, determining the actual cost of treatment purely depends upon the current condition of the patient. However, one can take the consultation from the medical expert that would cost around INR 1000 (depending upon the expertise and experience of the doctor).

Summary: The cost of treatment and procedure involved in Pachyonychia Congenita is quite difficult to determine. The reason behind this is the rarity of the disease and the actual condition of the patient.

Pachyonychia Congenita is a genetic disorder that is inherited by an individual at the time of birth. This clearly suggests there is no permanent treatment to cure this disease. Neither medicines nor physical exercises can help in treating the pachyonychia Congenita. But there are treatments available that can actually reduce the intensity or severity of this disease.

Summary: Genetic disorders can’t be cured or treated with the help of physical exercises. However, treatments may help in lowering the severity of the disease to a great extent. Physical exercise, on the other hand, can keep you mentally and physically fit.

Medication available for Pachyonychia Congenita is not associated with the cure but focuses on symptom control. Your doctor may give your medications that are suitable to control the levels of keratin.

Summary: Unfortunately, there is no specific medication available for treating Pachyonychia Congenita. But you can consult an expert who can prescribe certain medicines that are ideal in preventing the developing symptoms of the disease.

Since the nature of the disease is genetic, the results of the treatment cannot be permanent. It may relapse in case the treatment stops or pauses for a while.

Summary: Since the disease is caused by genetic factors, so results can’t be permanent. It may re-appear if you stop the treatment in between.

In the case of Pachyonychia Congenita, your doctor may give your medications that are suitable to control the levels of keratin.

Summary: Only the levels of keratin can be controlled via medication. There is no other way to prevent this disease.

People who are suffering from Pachyonychia Congenita are eligible for the treatment. Also, people with the same set of symptoms mentioned above can consult a doctor for diagnosis and treatment plans.

People who are not suffering from Pachyonychia Congenita are not eligible for the treatment.

Since there is no cure for the disease the treatment of Pachyonychia Congenita will go as long as the person survives.

Summary: Pachyonychia congenita (PC) can be described as a genetic disorder that affects the growth of your hair, nails, and skin. Mutation in any or all of the genes like PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17 can lead to pachyonychia congenita. Symptoms like abnormal fingernails, thick toenails, oddly shaped nail patterns can be seen in the affected individual. The treatment plan for such disorders has not been found yet, however, there are certain treatments available that one can take in order to get rid of the permanent nail, skin, or hair damage.