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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
  • Keratosis palmoplantaris papulosa
Related Diseases
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Overview

Punctate palmoplantar keratoderma type I, also known as keratosis palmoplantaris papulosa (KPPP) or Brauer-Buschke-Fisher Syndrome is is a rare condition that affects the skin. It is a type of punctate palmoplantar keratoderma.[1][2][3] Signs and symptoms begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet.[1][2][4][3][5] It is is usually inherited in an autosomal dominant manner and can be caused by mutations in the AAGAB gene.[5] Treatment options may include chemical or mechanical keratolysis as well as systemic acitretin. Some affected individuals have used surgical approaches consisting of excision and skin grafting.[6]
Last updated: 1/1/2016

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. Asadi AK. Type I hereditary punctuate keratoderma. Dermatology Online Journal. 2003;
  4. 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;
  5. KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; PPKP1. OMIM. November, 2014; http://omim.org/entry/148600. Accessed 1/1/2016.
  6. Rapprich S, Hagedorn M. Surgical treatment of severe palmoplantar keratoderma. J Dtsch Dermatol Ges. March 2011; 9(3):252-255.
  7. Palmoplantar keratoderma. DermNet NZ. 2015; http://www.dermnetnz.org/scaly/palmoplantar-keratoderma.html. Accessed 1/1/2016.
  8. Punctate-type palmoplantar keratoderma. DermNet NZ. September, 2015; http://www.dermnetnz.org/scaly/punctate-keratoderma.html. Accessed 1/1/2016.
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Basic Information

  • MedlinePlus provides more information on skin conditions in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Punctate palmoplantar keratoderma type I. Click on the link to view a sample search on this topic.
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
  • Keratosis palmoplantaris papulosa
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.