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Genetics Home Reference: your guide to understanding genetic conditions
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Steatocystoma multiplex

Reviewed August 2012

What is steatocystoma multiplex?

Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.

In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. In most people with steatocystoma multiplex, these cysts are the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.

How common is steatocystoma multiplex?

Although the prevalence of steatocystoma multiplex is unknown, it appears to be rare.

What genes are related to steatocystoma multiplex?

Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions for making a protein called keratin 17, which is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands. Keratin 17 partners with a similar protein called keratin 6b to form networks that provide strength and resilience to the skin, nails, and other tissues.

The KRT17 gene mutations that cause steatocystoma multiplex alter the structure of keratin 17, preventing it from forming strong, stable networks within cells. The defective keratin network disrupts the growth and function of cells in the skin and nails, including cells that make up the sebaceous glands. These abnormalities lead to the growth of sebum-containing cysts in people with steatocystoma multiplex. However, it is unclear why steatocystomas are typically the only feature of this disorder.

Many researchers believe that steatocystoma multiplex is a variant form of a disorder called pachyonychia congenita, which can also result from mutations in the KRT17 gene. Like steatocystoma multiplex, pachyonychia congenita involves the growth of steatocystomas. Pachyonychia congenita is also associated with more severe skin and nail abnormalities not usually found in people with steatocystoma multiplex.

In some cases, people with steatocystoma multiplex do not have an identified mutation in the KRT17 gene. The cause of the condition in these individuals is unknown.

Related Gene(s)

Changes in this gene are associated with steatocystoma multiplex.

  • KRT17

How do people inherit steatocystoma multiplex?

When steatocystoma multiplex is caused by mutations in the KRT17 gene, it is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent.

In people with steatocystoma multiplex who do not have identified KRT17 gene mutations, there is usually no family history of the disorder.

Where can I find information about diagnosis or management of steatocystoma multiplex?

These resources address the diagnosis or management of steatocystoma multiplex and may include treatment providers.

  • Genetic Testing Registry: Steatocystoma multiplex (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0259771)

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

You may find the following resources about steatocystoma multiplex helpful. These materials are written for the general public.

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

What other names do people use for steatocystoma multiplex?

  • multiple sebaceous cysts
  • multiplex steatocystoma
  • sebocystomatosis

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 steatocystoma multiplex?

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

What glossary definitions help with understanding steatocystoma multiplex?

autosomal ; autosomal dominant ; benign ; cell ; cysts ; family history ; gene ; inheritance ; inherited ; keratin ; mutation ; pachyonychia ; prevalence ; protein ; resilience ; sign

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

References

  • Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998 Sep;139(3):475-80. (http://www.ncbi.nlm.nih.gov/pubmed/9767294?dopt=Abstract)
  • Gass JK, Wilson NJ, Smith FJ, Lane EB, McLean WH, Rytina E, Salvary I, Burrows NP. Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation. Br J Dermatol. 2009 Dec;161(6):1396-8. doi: 10.1111/j.1365-2133.2009.09383.x. Epub 2009 Jul 31. (http://www.ncbi.nlm.nih.gov/pubmed/19659471?dopt=Abstract)
  • Gass JK, Wilson NJ, Smith FJ, Lane EB, McLean WH, Rytina E, Salvary I, Burrows NP. Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation. Br J Dermatol. 2009 Dec;161(6):1396-8. doi: 10.1111/j.1365-2133.2009.09383.x. Epub 2009 Jul 31. (http://www.ncbi.nlm.nih.gov/pubmed/19659471?dopt=Abstract)
  • Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol. 1997 Feb;108(2):220-3. (http://www.ncbi.nlm.nih.gov/pubmed/9008238?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: August 25, 2014