Familial cylindromatosis

Title

Other Names:

Cylindromatosis, familial; CYLD; Turban tumors; Cylindromatosis, familial; CYLD; Turban tumors; Turban tumor syndrome See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Rare Cancers; Congenital and Genetic Diseases; Eye diseases; Rare Cancers; Skin Diseases See More

This disease is grouped under:

Brooke-Spiegler syndrome; Cylindroma

Summary Summary

Familial cylindromatosis is a condition that causes multiple non-cancerous (benign) tumors called cylindromas to develop from the skin on the head and neck.^[1] These tumors rarely become cancerous (malignant). Many, rounded nodules of various size begin to develop shortly after puberty. They tend to grow very slowly and increase in number over time, and may be significantly affect appearance or cause vision difficulties.^[1] Individuals with this condition also have an increased chance to develop other skin tumors and tumors in the salivary gland.^[1]

Familial cylindromatosis is inherited in an autosomal dominant manner and is associated with mutations in the CYLD gene.^[1]^[2]

Last updated: 2/18/2015

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Subcutaneous nodule	Firm lump under the skin Growth of abnormal tissue under the skin [ more ]	0001482
Telangiectasia of the skin		0100585
Percent of people who have these symptoms is not available through HPO
Adult onset	Symptoms begin in adulthood	0003581
Autosomal dominant inheritance		0000006
Neoplasm of the skin	Skin tumors Tumor of the skin [ more ]	0008069

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Familial cylindromatosis is inherited in an autosomal dominantmanner and is associated with mutations in the CYLD gene.^[1]^[2] Each child of an individual with familial cylindromatosis has a 50% chance of inheriting a CYLD mutation and a 50% chance of not inheriting the mutation. Individuals with a CYLD mutation have an increased chance of developing multiple cylindromas; this is called a susceptibility or predisposition. Another mutation in the CYLD gene must occur by chance during a person's lifetime in order for tumors to develop. The number and type of tumors that develop in individuals with familial cylindromatosis varies, even among members of the same family.^[1]

Last updated: 2/18/2015

Treatment Treatment

Treatment of familial cylindromatosis depends on the number, size, and location of tumors. Single cylindromas may be treated with surgery, cryotherapy, or laser therapy.^[1] Multiple cylindromas may require multiple surgeries to remove all the tumors. In the most serious cases, significant reconstructive surgery may be the only treatment option.^[1]

Unfortunately, there is currently no way to cure or prevent familial cylindromatosis.

Last updated: 2/18/2015

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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

Genetics Home Reference (GHR) contains information on Familial cylindromatosis. This website is maintained by the National Library of Medicine.

In-Depth Information

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 Familial cylindromatosis. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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My husband has this condition and it seems no one knows what to really do to treat it. Can it be prevented? I am worried about other relatives developing this condition as well. See answer

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