Punctate palmoplantar keratoderma type I
Alternate names[edit | edit source]
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[edit | edit source]
Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma.
Cause[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
Signs and symptoms of punctate palmoplantar keratoderma type 1 tend to become evident between the ages of 10 to 30 years.
Signs and symptoms[edit | edit source]
- 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[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
- 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[edit source]
Punctate palmoplantar keratoderma type I is a rare disease.
Punctate palmoplantar keratoderma type I Resources | ||
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