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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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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Inheritance

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How is keratosis palmoplantaris papulosa inherited?

Keratosis palmoplantaris papulosa is usually inherited in an autosomal dominant manner.[1][2][3][4][5]

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.[6]

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

References
  1. Martinez-Mir A et al. Identification of a locus for type I punctuate palmoplantar keratoderma on chromosome 15q22-q24. J Med Genet. 2003;
  2. Oztas P et al.,. Punctate palmoplantar keratoderma (Brauer-Buschke-Fisher Syndrome). Am J Clin Dermatol. 2007;
  3. 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;
  4. Asadi AK. Type I hereditary punctuate keratoderma. Dermatology Online Journal. 2003;
  5. 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.
  6. 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.


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.