Cylindroma Clinical Presentation
- Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD more...
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.
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.
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.
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.
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.
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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