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Diseases

Genetic and Rare Diseases Information Center (GARD)

Punctate palmoplantar keratoderma type I


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

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What causes palmoplantar keratoderma type 1?

Punctate palmoplantar keratoderma type 1 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]
Last updated: 11/13/2012

References
  1. KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; PPKP1. OMIM. November, 2014; http://omim.org/entry/148600. Accessed 1/1/2016.
  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.


Other Names for this Disease
  • Buschke fischer brauer syndrome
  • Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
  • Type I punctate palmoplantar keratoderma
  • Keratoderma, palmoplantar punctate type 1
  • Buschke-Fischer-Brauer syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.