Punctate palmoplantar keratoderma type I

Alternate names

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

Definition

Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma.

Cause

• 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.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

• 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.

Onset

Signs and symptoms of punctate palmoplantar keratoderma type 1 tend to become evident between the ages of 10 to 30 years.

Signs and symptoms

• 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.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 100% of people have these symptoms

• Punctate palmoplantar hyperkeratosis

80%-99% of people have these symptoms

• Palmoplantar keratoderma(Thickening of palms and soles)

30%-79% of people have these symptoms

• Breast carcinoma(Breast cancer)
• Colon cancer
• Hodgkin lymphoma
• Neoplasm of the pancreas(Cancer of the pancreas)
• Renal cell carcinoma(Cancer starting in small tubes in kidneys)
• Transitional cell carcinoma of the bladder

5%-29% of people have these symptoms

• Abnormality of the nail

Diagnosis

• Diagnosis of punctate palmoplantar keratoderma type I may be established based on a positive family history (i.e., other affected family members), the presence of the signs associated with the condition, and certain cell histology (i.e., appearance of skin samples when viewed under a microscope).
• The diagnosis of the condition may be confirmed with genetic testing.

Treatment

• 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.

Prognosis

• Punctate palmoplantar keratoderma type I does not affect a person’s lifespan.
• 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.

NIH genetic and rare disease info

• NIH info on Punctate palmoplantar keratoderma type I

Punctate palmoplantar keratoderma type I is a rare disease.