Rare Rheumatology News

Disease Profile

CYLD cutaneous syndrome

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

-

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.

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)

BRSS; Spiegler-Brooke syndrome; SBS;

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.

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]

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
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

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]

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]

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 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

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.

References

  1. Dubois A, Rajan N. CYLD Cutaneous Syndrome. GeneReviews. Apr. 16, 2020; https://pubmed.ncbi.nlm.nih.gov/32298062.
  2. 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.
  3. 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.
  4. 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.

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