Pachyonychia Congenita: Know the Causes of this Skin Disease

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Pachyonychia congenita (PC) is an extremely uncommon form of pachyonychiosis. A genetic illness that manifests on the skin and nails. Persons of both sexes, as well as people of all racial and ethnic groups. It can be affected by this disorder. And the symptoms typically appear early in life or shortly after birth.

PC is caused by mutations that alter keratins. Which are proteins that offer structural support to cells. PC is divided into five subtypes according to the keratin gene that is mutated. In which determines which keratin is affected. Symptoms might differ from person to person and depend on the type of infection. Nevertheless, thicker nails and calluses on the soles of the feet are virtually always present in cases with this condition. Calluses on the soles of the feet can be extremely painful and make it difficult to walk. This is the most severe symptom. Some people find that using a cane, crutches. Or even a wheelchair is the most effective way to manage the pain associated with walking.

There is currently no cure for PC, but there are methods that the symptoms. Particularly the pain, can be managed.

Nails can become dystrophic and thickened, and painful palmoplantar keratoderma can be a symptom of this condition. In the year 1904, Müller made what is regarded as one of the earliest reported observations of pachyonychia congenita. Wilson issued the next report in 1905. And Jadassohn and Lewandowsky published theirs the following year in 1906.

Who Gets This Disease?

Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene.

Those who are born with the condition pachyonychia congenita have a mutation in one of the five keratin genes. More than 115 different mutations in these genes. They have been identified by researchers as being associated with the illness. PC can be passed down from a parent in some families. Whereas in others there is no known family history of the condition. And it is believed to be the result of a spontaneous mutation.

Because the ailment is caused by a single mutant gene copy. It has a dominant inheritance pattern, which implies that it can be passed on from parent to child. PC is extremely uncommon. It does not discriminate based on race or ethnicity and affects persons of both sexes.

The Causes

Pachyonychia congenita can be caused by mutations in a number of genes. The most common of which are KRT6A, KRT6B, KRT6C, KRT16, and KRT17. All of these genes supply the information needed to make a class of proteins known as keratins. Which are tough and fibrous. The formation of these protein networks provides the tissues that make up the skin. Also, hair, and nails with the strength and resilience they need to function properly.

The condition known as pachyonychia congenita is referred to as PC-K6a. When it is brought on by mutations in the KRT6A gene. In a similar vein, PC-K6b is caused by mutations in the KRT6B gene. PC-K6c is caused by mutations in the KRT6C gene, PC-K16 is caused by mutations. In the KRT16 gene, and PC-K17 is caused by mutations in the KRT17 gene.

The structure of keratin proteins is altered when mutations occur in the genes that code for keratin. Which inhibits these proteins from creating networks within cells that are robust and stable. Without this network, the cells that make up the skin become fragile. And are more prone to being destroyed, which makes the skin less resistant to damage. Caused by friction and other minor abrasions. 

Its breakdown of skin cells, which can be caused by seemingly innocuous activities like walking. This can lead to the development of blisters and calluses that are excruciatingly painful. The other characteristics of pachyonychia congenita are brought about as a result of defective keratins. Whose interfere with the normal growth and function of cells in the hair follicles and nails.

Symptoms of Pachyonychia Congenita

Even among persons who have the same type of PC or who are members of the same family. There can be a vast range of symptoms and degrees of severity. The majority of symptoms will likely present themselves. Within the first few months or years of a person’s life.

The following are some of the most prevalent features of PCs:

The bottoms of the feet were covered with painful calluses and blisters. In some people’s experiences, the calluses are itchy. Both palms of your hands may also develop calluses and blisters as a result of the condition.

Nails that are more robust. Patients with PC may or may not have thickening nails on all of their nails. And some persons may not have any thickened nails at all. However, the vast majority of patients have at least one nail that is damaged.

The most common ages for symptoms of a disease to begin is called age of onset.

Bumps around the hairs in areas where there is a lot of friction, such as the waist, the hips. Also, the knees, and the elbows. They are more prevalent in younger children. And become much less common in adolescents and adults.

A coating of white on the tongue as well as the inside of the cheeks.

Extreme discomfort with the first bite (also known as “first bite syndrome”). The discomfort can be felt in the area of the jaw or the ears. And it can last anywhere from 15 to 25 seconds once someone starts eating or swallowing. This condition is more prevalent in younger children. But has the potential to make it difficult for some infants to consume food. In most cases, it disappears after the child reaches their teenage years.


Every individual receives two copies of the majority of their genes. The manner in which a disease is passed on from parent to child. It is influenced by the number of copies of a gene that must have a disease-causing variant. The following pattern(s) of inheritance are associated with this disease:

When a gene is said to be autosomal, it signifies that it can be found on any chromosome. Other than the X or Y chromosomes (sex chromosomes). Similar to chromosomes, genes almost always occur in pairs. The term “dominant” refers to the fact that only one copy of the causative gene. (Also known as the causal gene) needs to have a disease-causing modification. (It is also known as a pathogenic variant) for a person to be affected by the condition. Even today, the word “pathogenic variation” can occasionally be interchanged. With the earlier term “mutation.”

It is possible for a person to inherit the variation that causes the genetic disease. From a parent who already has the condition. In other circumstances, the disease is caused by a novel pathogenic mutation (de novo). In the gene that is responsible for the condition. And there is no history of the sickness in the patient’s family.

Each child born to a parent who has an autosomal dominant disease. Has a probability of inheriting both the variation and the disease that is equal to one in two, or fifty percent. Children who inherit a dominant variety will almost always have the disease. However, the severity of the condition that they experience may vary greatly from that of their parent’s.

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