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Genetics Home Reference: your guide to understanding genetic conditions
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Focal palmoplantar keratoderma

Reviewed August 2012

What is focal palmoplantar keratoderma?

Focal palmoplantar keratoderma is a skin condition characterized by the development of painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. The skin abnormalities usually begin in childhood, and they primarily affect areas that experience trauma or friction. Severe blisters and calluses on the feet can cause pain and difficulty walking.

Some people with focal palmoplantar keratoderma also have very mild abnormalities of the fingernails and toenails.

How common is focal palmoplantar keratoderma?

Focal palmoplantar keratoderma appears to be a rare condition, although its prevalence is unknown.

What genes are related to focal palmoplantar keratoderma?

Focal palmoplantar keratoderma can result from mutations in the KRT6C gene or the KRT16 gene. These genes provide instructions for making proteins called keratin 6c and keratin 16. Keratins are tough, fibrous proteins that work together to provide strength and resilience to the tissues that make up the skin, hair, and nails.

Mutations in the KRT6C or KRT16 gene alter the structure of keratin 6c or keratin 16, preventing these proteins from interacting with other keratins to form strong, stable networks within cells. Without this network, skin cells become fragile and are easily damaged, making the skin less resistant to friction and minor trauma. The soles of the feet experience a significant amount of friction compared with many other parts of the body and must bear the body's weight, which may help explain why blisters and calluses primarily occur in this area in people with focal palmoplantar keratoderma.

Focal palmoplantar keratoderma is a major feature of a related skin disorder called pachyonychia congenita, which also results from mutations in keratin genes. In addition to blisters and calluses on the feet and hands, pachyonychia congenita is associated with severe nail abnormalities and skin problems affecting other parts of the body. Many researchers believe that focal palmoplantar keratoderma without these additional features represents a mild form of pachyonychia congenita.

Some people with focal palmoplantar keratoderma do not have an identified mutation in the KRT6C or KRT16 gene. The cause of the condition in these individuals is unknown.

Related Gene(s)

Changes in these genes are associated with focal palmoplantar keratoderma.

  • KRT16
  • KRT6C

How do people inherit focal palmoplantar keratoderma?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other affected individuals have no family history of the condition.

Where can I find information about diagnosis or management of focal palmoplantar keratoderma?

These resources address the diagnosis or management of focal palmoplantar keratoderma and may include treatment providers.

  • Genetic Testing Registry: Palmoplantar keratoderma, nonepidermolytic, focal (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2751804)

You might also find information on the diagnosis or management of focal palmoplantar keratoderma in Educational resources (http://www.ghr.nlm.nih.gov/condition/focal-palmoplantar-keratoderma/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/focal-palmoplantar-keratoderma/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about focal palmoplantar keratoderma?

You may find the following resources about focal palmoplantar keratoderma helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    Health Topic: Skin Conditions (http://www.nlm.nih.gov/medlineplus/skinconditions.html)

  • Educational resources - Information pages

    • Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas (http://www.firstskinfoundation.org/userAssets/file/PPKs.pdf)
    • Ichthyosis Support Group (UK): Palmoplantar Keratoderma (http://www.ichthyosis.org.uk/wp-content/uploads/2011/03/PPK-Leaflet.pdf)

  • Patient support - For patients and families

    • Foundation for Ichthyosis and Related Skin Types (FIRST) (http://www.firstskinfoundation.org/)
    • Ichthyosis Support Group (UK) (http://www.ichthyosis.org.uk/)
    • Pachyonychia Congenita Project (http://www.pachyonychia.org/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Palmoplantar keratoderma, nonepidermolytic, focal (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2751804)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22focal%20non-epidermolytic%20palmoplantar%20keratoderma%22%20OR%20%22Keratoderma%2C%20Palmoplantar%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((focal%5BTIAB%5D)%20AND%20(palmoplantar%20keratoderma%5BTIAB%5D))%20OR%20((focal%5BTIAB%5D)%20AND%20(palmoplantar%20keratoderma%5BTIAB%5D)%20AND%20(nonepidermolytic%20OR%20non-epidermolytic))%20OR%20(fneppk)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/613000)

What other names do people use for focal palmoplantar keratoderma?

  • FNEPPK
  • focal non-epidermolytic palmoplantar keratoderma
  • FPPK

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about focal palmoplantar keratoderma?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding focal palmoplantar keratoderma?

autosomal ; autosomal dominant ; cell ; family history ; gene ; keratin ; keratoderma ; mutation ; pachyonychia ; palmoplantar keratoderma ; prevalence ; resilience ; trauma

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D. Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. Br J Dermatol. 2011 Dec;165(6):1290-2. doi: 10.1111/j.1365-2133.2011.10552.x. (http://www.ncbi.nlm.nih.gov/pubmed/21801157?dopt=Abstract)
  • Bowden PE. Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. J Invest Dermatol. 2010 Feb;130(2):336-8. doi: 10.1038/jid.2009.395. (http://www.ncbi.nlm.nih.gov/pubmed/20081885?dopt=Abstract)
  • Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. 2007 Dec;48(3):199-205. Epub 2007 Aug 24. (http://www.ncbi.nlm.nih.gov/pubmed/17719747?dopt=Abstract)
  • Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet. 1995 Oct;4(10):1875-81. (http://www.ncbi.nlm.nih.gov/pubmed/8595410?dopt=Abstract)
  • Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH Jr, Tan EM, Uitto J, McLean WH. Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. Exp Dermatol. 2000 Jun;9(3):170-7. (http://www.ncbi.nlm.nih.gov/pubmed/10839714?dopt=Abstract)
  • Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ. Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol. 2010 Feb;130(2):425-9. doi: 10.1038/jid.2009.215. Epub 2009 Jul 16. (http://www.ncbi.nlm.nih.gov/pubmed/19609311?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2012
Published: May 13, 2013