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
What are the signs and symptoms of keratosis palmoplantaris papulosa?
What causes keratosis palmoplantaris papulosa?
How is keratosis palmoplantaris papulosa inherited?
How is keratosis palmoplantaris papulosa diagnosed?
How might keratosis palmoplantaris papulosa (KPPP) be treated?
In some families, keratosis palmoplantaris papulosa appears to be associated with an increased risk for cancer.
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.
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.
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.
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.
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.
- 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.