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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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Cause


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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.[1] Although the exact function of the AAGAB gene is currently unknown, the gene is thought to play an important role in skin integrity.[2]

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.[3]
Last updated: 11/13/2012

References
  1. KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; PPKP1. OMIM. November 6, 2012; http://omim.org/entry/148600. Accessed 11/9/2012.
  2. 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.
  3. Patel S, Zirwas M, English JC 3rd. Acquired palmoplantar keratoderma. Am J Clin Dermatol. 2007; 8(1):1-11.