Display options
Cite
Aguilera CA, De la Varga Martínez R, García LO, et al. Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome. Indian J Dermatol. 2016;61(5):580doi: 10.4103/0019-5154.190127.
Aguilera, C. A., De la Varga Martínez, R., García, L. O., Jiménez-Gallo, D., Planelles, C. A., & Barrios, M. L. (2016). Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome. Indian journal of dermatology, 61(5), 580. https://doi.org/10.4103/0019-5154.190127
Aguilera, Cintia Arjona, et al. "Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome." Indian journal of dermatology vol. 61,5 (2016): 580. doi: https://doi.org/10.4103/0019-5154.190127
Aguilera CA, De la Varga Martínez R, García LO, Jiménez-Gallo D, Planelles CA, Barrios ML. Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome. Indian J Dermatol. 2016 Sep-Oct;61(5):580. doi: 10.4103/0019-5154.190127. PMID: 27688459; PMCID: PMC5029256.
Copy Download .nbib Format: NLM
Share it on

Indian J Dermatol. 2016 Sep-Oct;61(5):580. doi: 10.4103/0019-5154.190127.

Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome.

Indian journal of dermatology

Cintia Arjona Aguilera, Raquel De la Varga Martínez, Lidia Ossorio García, David Jiménez-Gallo, Cristina Albarrán Planelles, Mario Linares Barrios

Affiliations

  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.

PMID: 27688459 PMCID: PMC5029256 DOI: 10.4103/0019-5154.190127

Abstract

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.

Keywords: Brooke–Spiegler syndrome; cylindromatosis protein; familial cylindromatosis; genodermatosis; trichoepithelioma multiple familial

References

  1. J Cutan Pathol. 2015 Feb;42(2):90-101 - PubMed
  2. Am J Dermatopathol. 1995 Jun;17(3):271-80 - PubMed
  3. Exp Ther Med. 2014 Oct;8(4):1097-1101 - PubMed
  4. Actas Dermosifiliogr. 2009 Sep;100(7):619-20 - PubMed
  5. Am J Dermatopathol. 2013 Feb;35(1):34-44 - PubMed
  6. AMA Arch Derm. 1956 Mar;73(3):199-227 - PubMed
  7. J Eur Acad Dermatol Venereol. 2015 Mar;29(3):457-62 - PubMed
  8. Am J Dermatopathol. 2014 Nov;36(11):868-74 - PubMed
  9. Dermatol Surg. 2003 Apr;29(4):411-4 - PubMed

Publication Types