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Disease Profile

Punctate palmoplantar keratoderma type I

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

US Estimated

Europe Estimated

Age of onset

Adolescent

ICD-10

Q82.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Brauer-Buschke-Fischer syndrome; Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Type I punctate palmoplantar keratoderma;

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma.[1][2][3] Signs and symptoms typically 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. These bumps can cause pain in some people.[1][2][4][3] The condition is usually inherited in an autosomal dominant manner and can be caused by a mutation in the AAGAB gene.[5] Treatment options may include removal of the thickened skin by a doctor or using a cream on the affected area. Some people have used surgical approaches consisting of excision and skin grafting.[6]

Symptoms

Signs and symptoms of punctate palmoplantar keratoderma type 1 tend to become evident between the ages of 10 to 30 years. Symptoms include multiple tiny, hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps may join to form calluses on pressure points, which may cause pain. They may also make walking difficult, or impair hand or finger movement.[4] Symptoms tend to worsen with time and may be aggravated by manual work or injury.[2]

In some families, punctate palmoplantar keratoderma type 1 appears to be associated with an increased risk for several types of cancer.[2][4][3][7] The types of cancer that may be associated with punctate palmoplantar keratoderma type I include Hodgkin disease, squamous cell carcinoma, and kidney, breast, pancreatic, and colon cancers.[3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Punctate palmoplantar hyperkeratosis
0007530
80%-99% of people have these symptoms
Palmoplantar keratoderma
Thickening of palms and soles
0000982
30%-79% of people have these symptoms
Breast carcinoma
Breast cancer
0003002
Colon cancer
0003003
Hodgkin lymphoma
0012189
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor

[ more ]

 0002894
Renal cell carcinoma
Cancer starting in small tubes in kidneys
0005584
Transitional cell carcinoma of the bladder
0006740
5%-29% of people have these symptoms
Abnormality of the nail
0001597
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Epidermal acanthosis
Thickening of upper layer of skin
0025092
Hypergranulosis
0025114
Late onset
0003584
Orthokeratosis
0040162
Do you have updated information on this disease? We want to hear from you.

Cause

In most families, punctate palmoplantar keratoderma type 1 is caused by a mutation in the AAGAB gene. The gene is thought to play an important role in skin integrity.[8] When the gene is not working properly, the skin clumps together, forming the bumps on the skin that are characteristic of the condition.[8] 

Diagnosis

Diagnosis of punctate palmoplantar keratoderma type I may be established based on a positive family history (i.e., other affected family members), the presence of the signs associated with the condition, and certain cell histology (i.e., appearance of skin samples when viewed under a microscope).[3] The diagnosis of the condition may be confirmed with genetic testing.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    Treatment options for punctate palmoplantar keratoderma type I generally include topical creams and removal of the lesions by a doctor. In some cases, oral medications may be prescribed to try to ease symptoms. These therapies can lead to temporary softening of the skin and a decrease in skin thickness.[11] Unfortunately, in many cases, treatment does not provide consistent or long-lasting results.[12]

    There has been some reported success using creams that break up the keratin deposits on the skin, such as corticosteroids, urea, salicylic acid, lactic acid, or vitamin A. Systemic therapy using vitamin D analogues, aromatic retinoids, and 5-fluorouracil has also been used. However, people on these medications often require chronic, low-dose therapy. These topical and systemic treatments carry a variety of side effects.[12]

    Surgery, including excision of affected areas of the skin and replacement with unaffected skin, has been used on lesions resistant to other forms of treatment. However, healing after surgery can be difficult. Treatment with a CO2 laser may be possible for limited affected areas on the palms.[12]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNet New Zealand is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

        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.

          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; https://omim.org/entry/148600.
          6. Rapprich S, Hagedorn M. Surgical treatment of severe palmoplantar keratoderma. J Dtsch Dermatol Ges. March 2011; 9(3):252-255.
          7. Keratoderma, palmoplantar, punctuate type I. Online Mendelian Inheritance in Man. June 8, 2016; https://omim.org/entry/148600. Accessed 1/1/2016.
          8. 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.
          9. What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. January 25, 2016; https://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns.
          10. Leung KC and Barankin B. Punctate Palmoplantar Keratoderma (Brauer-Buschke-Fisher Syndrome) Report of a Case and Review of the Literature. SM Journal of Case Reports. 2015; 1(1):1003.
          11. Charny JW and James WD. Keratosis Palmaris et Plantaris. Medscape Reference. June 10, 2016; https://emedicine.medscape.com/article/1108406-overview#a1.
          12. O'connor EA, Dzwierzynski WW. Palmoplantar keratoderma: treatment with CO2 laser case report and review of the literature. Ann Plast Surg. October 2011; 67(4):439-441. https://www.ncbi.nlm.nih.gov/pubmed/21540729.
          13. Giehl K. Punctate palmoplantar keratoderma type I. Orphanet. January 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79501.
          14. Patel S, Zirwas M, English JC 3rd. Acquired palmoplantar keratoderma. Am J Clin Dermatol. 2007; 8(1):1-11.

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