Congenital Pachyonychia
- Article
- 2021-01-30
Pachyonychia congenita is a very rare genetic condition that mainly affects the skin and nails. The disorder is usually seen from birth or early in life, and affects people of both sexes and all racial and ethnic groups.
What happens with pachyonychia congenita?
Pachyonychia congenita causes overgrowth of the nails and thick, painful calluses on the bottoms of the feet.
Types
There are five types of pachyonychia congenita, based on the gene that has been changed. These genes include: KRT6A, KRT6B, KRT6C, KRT16 and KRT17 . Thickened nails and calluses are common to all forms of the condition. The severity of the symptoms largely depends on the specific genetic mutation.
Symptoms
Common symptoms of pachyonychia congenita are:
- Thickened nails on the fingers and toes.
- Painful blisters and thick calluses on the soles of the feet when a child starts to walk. In some cases, blisters and calluses may form on the palms of the hands.
Other symptoms depend on the specific type of pachyonychia congenita and can include:
- Thick white patches on the tongue and cheeks.
- Bumps around the hair follicles on the elbows, knees and waist.
- Cysts all over the body.
- Babies born with teeth that crumble and fall out soon after birth.
Some symptoms persist over time. Others can change depending on a person's weight, activity level, and exposure to environmental stressors. Cysts can worsen during puberty, but bumps around the hair follicle can improve with age.
Therapy
There is no cure or drug to treat pachyonychia congenita. Over-the-counter medications are often used to treat pain associated with symptoms.
Find tips to help you cope with the condition in the Living With section .
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