HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
You might also be interested in
EtiopathogenesisThis section has been translated automatically.
Autosomal-dominantly inherited mutation of the Cylindroma gene(CYLD), which is located on gene locus 16q12-q13. The CYLD gene functions, among other things, as a tumour suppressor gene.
Clinical featuresThis section has been translated automatically.
In addition to the turbantumors(cylindromas) which characterize the clinical picture, trichoepitheliomas, spiradenomas as well as combination tumors such as spiradenozylindromas may be found. Subtypes of the clinical picture may predominantly express trichoepitheliomas. This autosomal dominantly inherited clinical picture is referred to as Brooke syndrome (OMIM 601606, OMIM 612099). In these cases, the distinction from multiple familial trichoepithelioma syndrome becomes difficult (if there is a distinction at all).
Complication(s)This section has been translated automatically.
LiteratureThis section has been translated automatically.
- Bignell GR et al (2000) Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 25: 160-165
- Brooke HAG (1892) Epithelioma adenoides cysticum. British Journal of Dermatology (Oxford) 4: 269-287
- Choi HR et al (2002) Molecular analysis of chromosome 16q regions in dermal analogue tumors of salivary glands: a genetic link to dermal cylindroma? Am J Surg Pathol 26: 778-783
- Clarke J et al (2002) Multiple familial trichoepitheliomas: a folliculosebaceous-apocrine genodermatosis. At J Dermatopathol 24: 402-405
- Ferrandiz C et al (1985) Dermal cylindromas (turban tumour) and eccrine spiradenomas in a patient with membranous basal cell adenoma of the parotid gland.J Cutan Pathol 12: 72-79
- Garat H et al (1999) Brooke-Spiegler syndrome. Ann Dermatol Venereol 126: 513-517
- Hu G et al (2003) a novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. J Invest Dermatol 121: 732-734
- Kumar P et al (2014) Linear milia en plaque on the forearm. Skinmed 12:250-251
- Miescher G (1957) Eruptive milia and Brooke's epithelioma adenoides cysticum]. Dermatologica 115:712-716
- Muñoz-Martínez R et al (2013) Milia en plaque. Actas Dermosifiliogr 104:638-640
- Poblete Gutierrez P et al (2002) Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. J Invest Dermatol 119: 527-531
- Spiegler E (1899) On endotheliomas of the skin. Arch Dermatol Syphilis (Berlin) 50: 163-176
Incoming links (5)Adenoma sebaceum; Cylindrocarcinoma; Cylindrome; Multiple Trichoepithelioma ; Spiradenoma;
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.