CYLD cutaneous syndrome

Title

How can we make GARD better? We want to hear from you.
Provide Feedback

Other Names:

BRSS; Spiegler-Brooke syndrome; SBS; BRSS; Spiegler-Brooke syndrome; SBS; Ancell-Spiegler cylindromas; Brooke-Spiegler syndrome; Familial cylindromatosis; Multiple familial trichoepitheliomas See More

Summary Summary

CYLD cutaneous syndrome causes the growth of several types of non-cancerous (benign) skin tumors. Tumors mainly grow on the scalp and face, but can also grow on the torso, genitals and armpits. Tumors usually first appear in the teens or early adulthood. The types of tumors that occur in CYLD cutaneous syndrome may include cylindromas, spiradenomas, and trichoepitheliomas. The number of tumors increases over time, and in severe cases, tumors can cover most of the scalp. Rarely, a tumor will become cancerous. Other complications may include an increased risk to develop basal cell cancer of the salivary gland or deafness due to the growth of a tumor in the ear canal. CYLD cutaneous syndrome is caused by genetic variants in the CYLD gene and is inherited in an autosomal dominant pattern. Diagnosis of CYLD cutaneous syndrome is based on the symptoms, clinical exam, and microscopic exam of the tumor tissue. Results of genetic testing may help confirm the diagnosis. Treatment is focused on managing the symptoms, and typically involves many surgeries to remove the tumors.^[1]^[2]^[3]^[4]

The conditions known as Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma are now recognized to be part of CYLD cutaneous syndrome.

Last updated: 10/21/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with CYLD cutaneous syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms of CYLD cutaneous syndrome may include:^[1]^[2]

Multiple non-cancerous skin tumors
- Cylindromas (smooth, pale pink growths)
- Spiradenomas (painful sweat gland tumor)
- Trichoepitheliomas (small skin-colored growths)
Salivary gland cancer
Hearing loss due to tumors in the ear canal

Tumors usually first appear in adolescence, but may appear later in life. The face and scalp are most often affected, but tumors can also grow on the torso, armpits, groin, and genitals. In severe cases, tumors may cover the entire scalp. The number of tumors increases with age. People with CYLD cutaneous syndrome are at increased risk for cancer. In addition, they may have psychological and social issues due to multiple facial and scalp tumors.^[2]^[3]

Last updated: 10/22/2020

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.

Showing of 21 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Cylindroma		0031024
30%-79% of people have these symptoms
Abnormal scalp morphology	Abnormality of the scalp	0001965
Abnormality of the neck		0000464
Trichoepithelioma		0025367
5%-29% of people have these symptoms
Abnormal bleeding	Bleeding tendency	0001892
Basal cell carcinoma		0002671
Multiple cutaneous malignancies		0007606
Nodular changes affecting the eyelids	Eyelid nodules	0010732
Skin ulcer	Open skin sore	0200042
Skin-colored papule		0025512
1%-4% of people have these symptoms
Abnormality of the auditory canal		0000372
Abnormality of the sublingual glands		0010288
Abnormality of the submandibular glands		0010287
Facial palsy	Bell's palsy	0010628
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Salivary gland neoplasm		0100684
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Percent of people who have these symptoms is not available through HPO
Adult onset	Symptoms begin in adulthood	0003581
Autosomal dominant inheritance		0000006
Milia	Milk spot	0001056
Neoplasm		0002664

Showing of 21 |

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

Last updated: 2/1/2021

Cause Cause

CYLD cutaneous syndrome is caused by the CYLD gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[1]

Last updated: 10/22/2020

Inheritance Inheritance

CYLD cutaneous syndrome is inherited in an autosomal dominant pattern.^[1]^[2] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one copy of a gene variant is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo) and there is no history of this condition in the family.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the gene variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition.

Last updated: 10/22/2020

Diagnosis Diagnosis

CYLD cutaneous syndrome is diagnosed based on the types of tumors, a clinical exam, and may be confirmed by the results of genetic testing. Additional testing may include a microscopic examination of a piece of tumor tissue (biopsy). The types of tumors found in CYLD cutaneous syndrome include cylindromas, spiradenomas, and trichoepitheliomas.^[1]^[2]^[3]

Last updated: 10/22/2020

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

Treatment for CYLD cutaneous syndrome is focused on managing the symptoms. Multiple surgeries may be needed to remove the tumors.^[1]^[2]

Specialists involved in the care of someone with CYLD cutaneous syndrome may include:

Dermatologist
Plastic surgeon
Oncologist
Psychologist/Psychiatrist

Last updated: 10/22/2020

Statistics Statistics

The exact number of people with CYLD cutaneous syndrome is unknown. It has been estimated that about one in 100,000 people may have this condition.^[1]^[2]

Last updated: 10/22/2020

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

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 MedlinePlus Genetics.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes pilar cysts and neurofibromatosis type 1. Facial papules in MFT can mimic papules seen in other conditions such as Birt-Hogg-Dubé syndrome and tuberous sclerosis complex (see these terms). Visit the Orphanet disease page for more information.

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

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
MedlinePlus Genetics contains information on CYLD cutaneous syndrome. This website is maintained by the National Library of Medicine.
The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

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 CYLD cutaneous syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Dubois A, Rajan N. CYLD Cutaneous Syndrome. GeneReviews. Apr. 16, 2020; https://pubmed.ncbi.nlm.nih.gov/32298062.
Arruda AP, Cardoso-Dos-Santos AC, Mariath LM, Feira MF, Kowalski TW, Bezerra KRF, da Silva LACT, Ribeiro EM, Schuler-Faccini L. A large family with CYLD cutaneous syndrome: medical genetics at the community level. J Community Genet. Jul 2020; 11(3):279-284. https://pubmed.ncbi.nlm.nih.gov/31792733.
Carton de Tournai D, Vandernoot I, Marangoni M, Faverly D, Diaz M, Casagranda A, Berlingin E, Van Maldergem L. CYLD-related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families. J Eur Acad Dermatol Venereol. Jul. 17, 2020; Epub ahead of print. https://pubmed.ncbi.nlm.nih.gov/32678957.
Zhu R, Xu J, Shen J, Li W, Tan F, Li C, Wei Z, Liu Y, Bai Y. A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family. Mol Genet Genomic Med. Aug 11, 2020; 8(10):e1441. https://pubmed.ncbi.nlm.nih.gov/32783365.