Rare Pulmonology News

Disease Profile

Steatocystoma multiplex

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

Age of onset

#N/A

ICD-10

#N/A

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.

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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)

Multiple sebaceous cysts; Sebocystomatosis; Multiplex steatocystoma

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition can be caused by mutations in the KRT17 gene and is inherited in an autosomal dominant manner. Some cases are sporadic (where there are no other cases in the family).[1][2] Some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2.[3] Treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation.[1]

Symptoms

Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as well.[1][4][5] The cysts are typically filled with a yellowish to white, oily fluid, and occasionally have hair within them. The cysts can become infected and may cause pain and scarring.[6] The age of onset and severity of the condition is variable, and typically worsens during puberty.[7]

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
80%-99% of people have these symptoms
Adenoma sebaceum
0009720
Steatocystoma multiplex
0012035
5%-29% of people have these symptoms
Nephrolithiasis
Kidney stones
0000787
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006

Cause

Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion.[8][9][10]

In other cases the condition occurs sporadically. This may mean that it is due to a gene mutation that was not inherited, but occurred for the first time in the affected individual. A sporadic condition may also be non-genetic and occur by chance, in which case it is not likely to recur in a family. In many sporadic cases of steatocystoma multiplex, mutations in the KRT17 gene have not been identified.[8]

Cases of steatocystoma multiplex have also been reported in association with pachyonychia congenita, acrokeratosis verruciformis, hypertrophic lichen planus, hypohidrosis, hidradenitis suppurativa, and natal teeth.[4]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected individuals often have multiple cysts.[11] In many cases, small incisions (cuts into the skin) allow the cyst and its contents to be removed through the opening.[1] Other treatment options include medications such as oral isotretinoin to temporarily shrink the cysts and reduce inflammation or oral antibiotics (tetracycline and derivatives) to reduce redness and swelling. Other procedures may include draining cysts through a procedure called aspirationliquid nitrogen cryotherapydermabrasion, and carbon dioxide laser therapy.[1][6][11][12]

    Laser treatments may be useful for patients with numerous cysts in whom removal and drainage is not a realistic choice and for whom other treatments have failed to improve the condition.[11]

    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

      Organizations Providing General Support

        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 NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
        • Genetics Home Reference (GHR) contains information on Steatocystoma multiplex. This website is maintained by the National Library of Medicine.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • 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 Steatocystoma multiplex. Click on the link to view a sample search on this topic.

            Resources for Kids

              References

              1. Oakley A. Steatocystoma multiplex. DermNet NZ. February 22, 2014; https://www.dermnetnz.org/lesions/steatocystoma-multiplex.html.
              2. Steatocystoma Multiplex. OMIM. 1997; https://omim.org/entry/184500.
              3. KRT17. Genetics Home Reference. 2015; https://ghr.nlm.nih.gov/gene/KRT17.
              4. Naik NS. Steatocystoma multiplex. Dermatol Online J. 2000 Sep;
              5. Steatocystoma-Multiplex. New Zealand Dermatologic Society, Inc. 2014; https://www.dermnetnz.org/lesions/steatocystoma-multiplex.html.
              6. Lee KK, Mehrany K, Swanson NA. Recognition and Treatment of Skin Lesions. In: Cummings. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, PA: Mosby, Inc; 2005;
              7. Liu Q, Wu W, Lu J, Wang P & Qiao F. Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. Molecular Medicine Reports. 2015; 12(4):5072-5076.
              8. Chu DH. Steatocystoma multiplex. Dermatol Online J. 2003 Oct;
              9. Pamoukian VN, Westreich M. Five generations with steatocystoma multiplex congenita: a treatment regimen. Plast Reconst Surg. 1997;
              10. Steatocystoma multiplex. Online Mendialian Inheritance in Man. 1997; https://omim.org/entry/184500.
              11. Moody MN, Landau JM, Goldberg LH, Friedman PM. 1,450-nm Diode Laser in Combination with the 1550-nm Fractionated Erbium-Doped Fiber Laser for the Treatment of Steatocystoma Multiplex: A Case Report. Dermatol Surg. April 2012; Epub:
              12. Davey MA. Steatocystoma Multiplex Treatment & Management. Medscape Reference. 2016; https://emedicine.medscape.com/article/1059725-treatment.

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