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Keratosis palmoplantaris papulosa


Other Names for this Disease
  • Buschke fischer brauer syndrome
  • Keratoderma, palmoplantar punctate type 1
  • Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
  • Type I punctate palmoplantar keratoderma
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Your Question

My father has Buschke Fischer keratoderma palmo-plantaris. Is there any treatment for this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is keratosis palmoplantaris papulosa?

Keratosis palmoplantaris papulosa (KPPP) is a rare condition that affects the skin. It is a type of punctate palmoplantar keratoderma.[1][2][3] Signs and symptoms 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.[1][2][4][3][5] KPPP is usually inherited in an autosomal dominant manner and can be caused by mutations in the AAGAB gene.[5] Treatment options may include chemical or mechanical keratolysis as well as systemic acitretin. Some affected individuals have used surgical approaches consisting of excision and skin grafting.[6]
Last updated: 11/12/2012

What are the signs and symptoms of keratosis palmoplantaris papulosa?

Signs and symptoms of keratosis palmoplantaris papulosa tend to become evident between the ages of 10 to 30 years. Symptoms include multiple, tiny, hard rounded bumps of thickened skin on the palms of the hands and soles of the feet. The bumps may join to form calluses on pressure points. The legions may cause pain, making walking difficult and impairing hand/finger movement.[2][4][3] Symptoms tend to worsen with time and may be aggravated by manual work or injury.[2]

In some families, keratosis palmoplantaris papulosa appears to be associated with an increased risk for cancer.[2][4][3][7]
Last updated: 11/9/2012

What causes keratosis palmoplantaris papulosa?

Keratosis palmoplantaris papulosa (KPPP) is a condition that is usually inherited in an autosomal dominant manner. It has recently been shown to be caused by mutations in the AAGAB gene in several families.[5] Although the exact function of the AAGAB gene is currently unknown, the gene is thought to play an important role in skin integrity.[8]

It is known that some forms of palmoplantar keratoderma (PPK) are acquired as opposed to inherited, but we are unaware of reports of specific cases of KPPP (one type of PPK) being described as acquired cases.[9]
Last updated: 11/13/2012

How is keratosis palmoplantaris papulosa inherited?

Keratosis palmoplantaris papulosa is usually inherited in an autosomal dominant manner.[1][2][4][3][7]

Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient 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. When a person with an autosomal dominant disorder has a child, there is a 50% chance that his/her child will inherit the condition.[10]

Keratosis palmoplantaris papulosa shows “age dependent penetrance” and possibly “variable penetrance” as well. Age dependant penetrance means that the older the person is, the more likely they are to develop symptoms if they have inherited the disease causing gene mutation.

Variable penetrance means that not everyone who inherits the gene mutation that causes keratosis palmoplantaris papulosa develops the signs and symptoms of the condition. However this person would still be at risk of passing the disease-causing mutation to their offspring.

Last updated: 11/13/2012

How is keratosis palmoplantaris papulosa diagnosed?

Features that support the diagnosis of keratosis palmoplantaris papulosa include a positive family history (i.e., other affected family members), the presence of multiple tiny hard rounded bumps of thickened skin on the hands and feet, and certain cell histology (i.e., appearance of skin samples when viewed under a microscope).[3]
Last updated: 3/10/2010

How might keratosis palmoplantaris papulosa (KPPP) be treated?

Treatment options for this condition generally include topical salicylic acid, mechanical debridement, excision, and systemic retinoids. These therapies can lead to a temporary decrease in skin thickness and softening of the skin.[2] Unfortunately, it has been said that medical and surgical treatment for punctate keratodermas typically do not provide consistent or long-lasting results.[11]

With regard to punctate keratodermas in general, there has been some reported success using keratolytics 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, individuals with successful resolution of lesions often relapse unless they are maintained on chronic low-dose therapy. These topical and systemic treatments carry a variety of side effects.[11]

Surgery (including excision and skin grafting) for punctate keratodermas has been used on lesions resistant to medical treatment, but healing after surgical treatment can be difficult. CO2 laser ablation has also been attempted and reportedly produces good results for limited areas of hyperkeratosis of the palms.[11]
Last updated: 11/13/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

References
  • Martinez-Mir A et al. Identification of a locus for type I punctuate palmoplantar keratoderma on chromosome 15q22-q24. J Med Genet. 2003;
  • Oztas P et al.,. Punctate palmoplantar keratoderma (Brauer-Buschke-Fisher Syndrome). Am J Clin Dermatol. 2007;
  • Asadi AK. Type I hereditary punctuate keratoderma. Dermatology Online Journal. 2003;
  • Erkek E et al.,. Type I Hereditary punctuate keratoderma associated with widespread lentigo simplex and successfully treated with low-dose oral acitretin. Arch Dermatology. 2006 Aug;
  • KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; PPKP1. OMIM. November 6, 2012; http://omim.org/entry/148600. Accessed 11/9/2012.
  • Rapprich S, Hagedorn M. Surgical treatment of severe palmoplantar keratoderma. J Dtsch Dermatol Ges. March 2011; 9(3):252-255.
  • Keratoderma, palmoplantar, punctuate type I. Online Mendelian Inheritance in Man. 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148600. Accessed 3/10/2010.
  • Giehl KA, et al. Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer. Am J Hum Genet. October 5, 2012; 91(4):754-759.
  • Patel S, Zirwas M, English JC 3rd. Acquired palmoplantar keratoderma. Am J Clin Dermatol. 2007; 8(1):1-11.
  • What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. September 23, 2013; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns. Accessed 9/24/2013.
  • O'connor EA, Dzwierzynski WW. Palmoplantar keratoderma: treatment with CO2 laser case report and review of the literature. Ann Plast Surg. October 2011; 67(4):439-441.
  • Palmoplantar keratoderma. DermNet NZ. 2005; http://www.dermnetnz.org/scaly/palmoplantar-keratoderma.html. Accessed 3/10/2010.
  • Punctate-type palmoplantar keratoderma. DermNet NZ. 2005; http://www.dermnetnz.org/scaly/punctate-keratoderma.html. Accessed 3/10/2010.