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Cylindroma Clinical Presentation

  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Feb 08, 2016
 

History

The solitary form usually begins in middle age or later as a slow-growing, rubbery nodule exhibiting no symptoms.

The dominantly inherited, multiple variety appears shortly after puberty as numerous, rounded nodules of various sizes ranging from several millimeters to larger than 6 cm. Lesions grow slowly, and additional lesions develop over time.

Loss of CYLD can be linked with development of salivary gland cancers.[13]

Brooke-Spiegler syndrome (BSS) associated with unilateral hearing loss has been reported.[14] BSS manifesting with pegged teeth has been reported.[15]

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Physical

Except for BSS, pertinent findings are largely limited to the skin. Histologically similar tumors have been found in the breast, parotid glands, salivary glands, lacrimal gland of the eye, Bartholin glands, the brain, lungs, and kidneys. An interesting case of cylindroma was reported on the breast in 2013.[16]

Skin lesions associated with cylindromas

Solitary lesions are firm, rubbery nodules with pink, red, or sometimes blue coloring that range in size from a few millimeters to several centimeters.

The multiple form has numerous masses of pink, red, or blue nodules, sometimes resembling bunches of grapes or small tomatoes (sometimes called a tomato tumor).

Dermal cylindromas are noted, some which can be in the deep dermis.[17]

Skin distribution of cylindromas

The solitary form is typically found on the head and neck. The multiple form most commonly occurs on the head and neck but can also be seen on the trunk and the extremities.

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Causes

The cause of sporadic, solitary cylindromas is largely unknown; however, genetic studies of sporadic cylindromas show loss of heterozygosity at and around the CYLD locus in a substantial number of cases, suggesting that this gene also plays a role in the development of sporadic tumors.

The tyrosine kinase pathway might be a treatment target in tumors with defective CYLD.[18]

Familial cylindromatosis is inherited in an autosomal dominant fashion, and the responsible gene, CYLD, is located on band 16q12-13. Tumors exhibit loss of heterozygosity, implicating the gene as a tumor suppressor gene. The precise biological function of the CYLD gene is yet to be elucidated. It has 4 functional motifs: CAP-GLY domains, proline-rich domains, metal-binding fingerlike domains, and regions with homology to UCH-catalytic domains. The CYLD gene consists of 20 exons; the first 3 are untranslated and the latter 17 are coding exons. Various mutations have been observed, such as frameshift, nonsense, or splice site mutations. Most mutations occur in 3'2/3rds of the C-terminal coding portion of the gene, in exons 9-20.

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Contributor Information and Disclosures
Author

Noah S Scheinfeld, JD, MD, FAAD Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

Noah S Scheinfeld, JD, MD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie<br/>Received income in an amount equal to or greater than $250 from: Optigenex<br/>Received salary from Optigenex for employment.

Coauthor(s)

Anusuya Mokashi, MD, MS Resident Physician, Department of Radiology, Staten Island University Hospital

Disclosure: Nothing to disclose.

Julide Tok Celebi, MD Assistant Professor of Dermatology, Columbia University, College of Physicians and Surgeons; Consulting Staff, Department of Dermatology, New York Presbyterian Medical Center

Julide Tok Celebi, MD is a member of the following medical societies: American Academy of Dermatology, American Association for Cancer Research, Society for Investigative Dermatology, Society for Melanoma Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Christen M Mowad, MD Professor, Department of Dermatology, Geisinger Medical Center

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, Noah Worcester Dermatological Society, Pennsylvania Academy of Dermatology, American Academy of Dermatology, Phi Beta Kappa

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Abby S Van Voorhees, MD Assistant Professor, Director of Psoriasis Services and Phototherapy Units, Department of Dermatology, University of Pennsylvania School of Medicine, Hospital of the University of Pennsylvania

Abby S Van Voorhees, MD is a member of the following medical societies: American Academy of Dermatology, Women's Dermatologic Society, National Psoriasis Foundation, American Medical Association, Phi Beta Kappa, Sigma Xi

Disclosure: Received honoraria from Amgen for consulting; Received honoraria from Abbott for consulting; Partner received salary from Merck for management position; Received honoraria from Abbott for speaking and teaching; Received honoraria from Amgen for review panel membership; Received honoraria from Centocor for consulting; Received honoraria from Leo for consulting; Received none from Merck for other.

Acknowledgements

Arnold R Oppenheim, MD Assistant Professor, Department of Internal Medicine, Division of Dermatology, Eastern Virginia School of Medicine

Arnold R Oppenheim, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Clinical Pathology

Disclosure: Nothing to disclose.

References
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