<\/span><\/h2>\nBrooke-Spiegler syndrome (BRSS or BSS) is rare genetic<\/span> condition that results in a variety of tumors arising from the skin appendices<\/span> (hair<\/span> follicle<\/span> tumors and sweat gland tumors). The syndrome includes limited variants, family<\/span> cylindromatosis and multiple familial trichoepitheliomas (MFT1).<\/p>\n<\/span>What causes Brooke-Spiegler syndrome?<\/span><\/h2>\nBrooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepitheliomas are due to germ line<\/span> mutations<\/span> in cylindromatosis (CYLD) gene<\/span> in chromosome<\/span> 16q12. These disorders have a autosomal<\/span> dominant inheritance, meaning that half of an affected person's children will also have the condition.<\/p>\nCYLD works as a tumor<\/span> suppressor gene and has regulatory functions in development, immunity and inflammation<\/span>. To date, a total of 51 germline CYLD mutations have been found. A wide range of ethnic and racial backgrounds have been reported in affected patients and families.<\/p>\n\n
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<\/span>What are the characteristics of Brooke-Spiegler syndrome?<\/span><\/h2>\nBrooke-Spiegler syndrome causes predisposition<\/span> to three types of benign<\/span> skin appendix tumor.<\/p>\n\n- Cylindromas: solitary or multiple tumors on the scalp<\/li>\n
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Trichoepitheliomas \u2013 skin color papules<\/span> on the central face<\/li>\n- Spiradenomas \u2013 painful nodules<\/span> in head, neck and trunk<\/li>\n<\/ul>\n
Brooke-Spiegler syndrome is also infrequently associated with saliva and parotid gland<\/span> tumors<\/p>\nThe limited forms of the disease are:<\/p>\n
\n- Familial cylindromatosis: characterized by cylindromas alone; and;<\/li>\n
- Multiple familial trichoepitheliomas: characterized by single trichoepitheliomas.<\/li>\n<\/ul>\n
Affected individuals typically present from late childhood to early adulthood with multiple papules and nodules on the scalp, face, and neck. They develop an increasing number of injuries over time. However, there is wide variability of presentation within and between families with Brooke-Spiegler syndrome.<\/p>\n
Although the tumors are generally considered harmless, there are reports of evil one<\/span> transformation.<\/p>\n\n- Spiradenoma can transform into spiradenocarcinoma.<\/li>\n
- Cylindroma can transform into cylindrocarcinoma.<\/li>\n
- Trichoepithelioma can transform into basal<\/span> cell carcinoma<\/span>.<\/li>\n<\/ul>\n
<\/span>How was the diagnosis made?<\/span><\/h2>\nBrooke-Spiegler syndrome may be suspected if there is a family history of multiple benign skin tumors.<\/p>\n
Cylindromas, trichoepitheliomas, and spiradenomas are difficult to distinguish clinically. Therefore the skin biopsy<\/span> It is required to confirm the diagnosis.<\/p>\n<\/span>What treatment is available for Brooke-Spiegler syndrome?<\/span><\/h2>\nBrooke-Spiegler syndrome is not curable. Possible treatment options for individual tumors include:<\/p>\n
\n- Excision<\/span><\/li>\n
- Electrosurgery<\/li>\n
- Dermabrasion<\/li>\n
- Erbium: yttrium-aluminum-garnet (Er: YAG) To be<\/span><\/li>\n
- Carbon dioxide laser resurfacing\n<\/li>\n
- Cryotherapy<\/span><\/li>\n
- \nRadiotherapy<\/span>.<\/li>\n<\/ul>\n<\/section>","protected":false},"excerpt":{"rendered":"
\u00bfQu\u00e9 es Brooke-Spiegler? s\u00edndrome? El s\u00edndrome de Brooke-Spiegler (BRSS o BSS) es raro gen\u00e9tico condici\u00f3n que resulta en una variedad de tumores derivados de la piel ap\u00e9ndices (cabello fol\u00edculo tumores…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-7432","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/7432","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=7432"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/7432\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=7432"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=7432"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=7432"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}