Rare Gastroenterology News

Disease Profile

Syringoma

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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Summary

Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes, but may also appear elsewhere on the face, in the armpits, umbilicus, upper chest, and genitalia.[1] They arise from the sweat ducts and may occur suddenly in crops or multiples.[2][3] There are 4 types of syringoma: a localized form, a form associated with Down syndrome, a generalized form that encompases multiple and eruptive syringomas, and a familial form. Syringomas are usually asymptomatic; However, rarely, individuals can experience extreme itching (pruritus), especially while sweating.[4] They are found more commonly in Caucasians, and in females at puberty or near middle-age.[2][3] Syringomas may be treated surgically using different methods such as high frequency electric current (electrosurgery) or laser.[1]

Symptoms

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
Percent of people who have these symptoms is not available through HPO
Abnormality of the skin
0000951
Autosomal dominant inheritance
0000006

Treatment

People with syringomas have a variety of surgical treatment options, including high frequency electric current (electrosurgery) and laser surgery. As individuals with syringoma usually do not have symptoms, treatment is typically considered cosmetic. The goal of treatment is to destroy the tumor with little to no scarring or recurrence; however, syringomas may be located deep within the skin (dermis), therefore complete removal is often difficult and recurrence is common.[1][4]

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.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
        • 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. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Syringoma. Click on the link to view a sample search on this topic.

          Resources for Kids

            Diagrams/Images

            • An image of syringoma is available on the Visual Dx Health Web site. Click on Visual Dx Health to view the image.

              References

              1. Oakley, Amanda. Syringoma. DermNet New Zealand. https://www.dermnetnz.org/topics/syringoma/. Accessed 11/14/2016.
              2. Guldbakke KK. Woman with translucent to yellow papules. J Am Acad Dermatol. 2006 Jul;
              3. 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;
              4. Shea, CR. Syringoma. Medscape. Jun 06, 2016; https://emedicine.medscape.com/article/1059871. Accessed 11/14/2016.

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