Indian Journal of Dermatology
  Publication of IADVL, WB
  Official organ of AADV
Indexed with Science Citation Index (E) , Web of Science and PubMed
Users online: 8599  
Home About  Editorial Board  Current Issue Archives Online Early Coming Soon Guidelines Subscriptions  e-Alerts    Login  
    Small font sizeDefault font sizeIncrease font size Print this page Email this page
Year : 2016  |  Volume : 61  |  Issue : 5  |  Page : 580

Heterozygous cylindromatosis gene mutation c.1628_1629delCT in a family with brook-spiegler syndrome

1 Department of Dermatology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain
2 Department of Immunology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain

Correspondence Address:
Cintia Arjona Aguilera
University Hospital Puerta del Mar, Andalusian Heath Service, Avd. Ana de Viya nº21, 11009, Cadiz
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.190127

Rights and Permissions

Brooke–Spiegler Syndrome (BSS) is a rare genodermatosis characterized by the progressive formation of adnexal skin tumors in the scalp and face, mainly trichoepitheliomas, cylindromas, and spiradenomas. It has also been associated with salivary glands neoplasms. It is due to mutations in the tumor suppressor gene cylindromatosis (CYLD gene) localized on chromosome 16q12−q13. Around 93 mutations have been described. The study of CYLD gene in patients and their relatives is of vital importance to establish the molecular diagnosis and offer appropriate genetic counseling. There is a low risk of malignancy and patients require long-term follow-up. A case of BSS in a family is described. The existence of the genetic mutation at the CYLD gene c. 1628_1629delCT in three of the women affected was demonstrated. This mutation has only been described once in a previous study.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded42    
    Comments [Add]    
    Cited by others 2    

Recommend this journal