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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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Symptoms

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What are the signs and symptoms of keratosis palmoplantaris papulosa?

Signs and symptoms of keratosis palmoplantaris papulosa tend to become evident between the ages of 10 to 30 years. Symptoms include multiple, tiny, hard rounded bumps of thickened skin on the palms of the hands and soles of the feet. The bumps may join to form calluses on pressure points. The legions may cause pain, making walking difficult and impairing hand/finger movement.[1][2][3] Symptoms tend to worsen with time and may be aggravated by manual work or injury.[1]

In some families, keratosis palmoplantaris papulosa appears to be associated with an increased risk for cancer.[1][2][3][4]
Last updated: 11/9/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris papulosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Palmoplantar keratoderma 90%
Lymphoma 50%
Neoplasm of the breast 50%
Neoplasm of the colon 50%
Neoplasm of the pancreas 50%
Renal neoplasm 50%
Abnormality of the nail 7.5%
Abnormality of the skin -
Autosomal dominant inheritance -
Heterogeneous -
Late onset -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Oztas P et al.,. Punctate palmoplantar keratoderma (Brauer-Buschke-Fisher Syndrome). Am J Clin Dermatol. 2007;
  2. 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;
  3. Asadi AK. Type I hereditary punctuate keratoderma. Dermatology Online Journal. 2003;
  4. 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.


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.