What is the definition of Punctate Palmoplantar Keratoderma Type 1?

Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma. Signs and symptoms typically begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps can cause pain in some people. The condition is usually inherited in an autosomal dominant manner and can be caused by a mutation in the AAGAB gene. Treatment options may include removal of the thickened skin by a doctor or using a cream on the affected area. Some people have used surgical approaches consisting of excision and skin grafting.

What are the alternative names for Punctate Palmoplantar Keratoderma Type 1?

  • Brauer-Buschke-Fischer syndrome
  • Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
  • Type I punctate palmoplantar keratoderma
  • Keratoderma, palmoplantar punctate type 1
  • Keratosis palmoplantaris papulosa
  • Punctate palmoplantar keratoderma type 1

What are the causes for Punctate Palmoplantar Keratoderma Type 1?

In most families, punctate palmoplantar keratoderma type 1 is caused by a mutation in the AAGAB gene.  The gene is thought to play an important role in skin integrity. When the gene is not working properly, the skin clumps together, forming the bumps on the skin that are characteristic of the condition. 

What are the symptoms for Punctate Palmoplantar Keratoderma Type 1?

Signs and symptoms of punctate palmoplantar keratoderma type 1 tend to become evident between the ages of 10 to 30 years. Symptoms include multiple tiny, hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps may join to form calluses on pressure points, which may cause pain. They may also make walking difficult, or impair hand or finger movement. Symptoms tend to worsen with time and may be aggravated by manual work or injury. In some families, punctate palmoplantar keratoderma type 1 appears to be associated with an increased risk for several types of cancer. The types of cancer that may be associated with punctate palmoplantar keratoderma type I include Hodgkin disease, squamous cell carcinoma, and kidney, breast, pancreatic, and colon cancers. 

What are the current treatments for Punctate Palmoplantar Keratoderma Type 1?

Treatment options for punctate palmoplantar keratoderma type I generally include topical creams and removal of the lesions by a doctor. In some cases, oral medications may be prescribed to try to ease symptoms. These therapies can lead to temporary softening of the skin and a decrease in skin thickness. Unfortunately, in many cases, treatment does not provide consistent or long-lasting results. There has been some reported success using creams that break up the keratin deposits on the skin, such as corticosteroids, urea, salicylic acid, lactic acid, or vitamin A. Systemic therapy using vitamin D analogues, aromatic retinoids, and 5-fluorouracil has also been used. However, people on these medications often require chronic, low-dose therapy. These topical and systemic treatments carry a variety of side effects. Surgery, including excision of affected areas of the skin and replacement with unaffected skin, has been used on lesions resistant to other forms of treatment. However, healing after surgery can be difficult. Treatment with a CO2 laser may be possible for limited affected areas on the palms.

What is the outlook (prognosis) for Punctate Palmoplantar Keratoderma Type 1?

Punctate palmoplantar keratoderma type I, per se, does not affect a person’s lifespan. However, many people with this condition do find that they develop more skin lesions with age. Additionally, the symptoms of punctate palmoplantar keratoderma type I and some of the treatments for the condition may have side effects that impact a person's quality of life. The long-term outlook may differ depending on each person’s individual symptoms and pain tolerance. Because there have been reports in which PPK type 1 was associated with other diseases or with the risk of developing some types of cancer, some researchers have suggested screening for these diseases in people affected with PPK1. In these cases, the prognosis depend on the associated condition.

Is Punctate Palmoplantar Keratoderma Type 1 an inherited disorder?

Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is necessary for a person to be affected. An autosomal dominant condition may occur for the first time in an affected individual due to a new mutation, or may be inherited from an affected parent. A person with punctate keratoderma has a 50% chance of passing on the condition to each of his or her children. Punctate palmoplantar keratoderma type I also shows reduced penetrance. This means that not everyone who inherits the gene mutation that causes the condition will develop symptoms of the condition. However, this person would still be at risk of passing the disease-causing mutation to their offspring.

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