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
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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. Although the exact function of the AAGAB gene is currently unknown, the gene is thought to play an important role in skin integrity.
Last updated: 11/13/2012
- KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; PPKP1. OMIM. November, 2014; http://omim.org/entry/148600. Accessed 1/1/2016.
- 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.