Literature DB >> 29808590

Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects.

Manahel M AlSabbagh1, Mariam A Baqi2.   

Abstract

Bazex-Dupré-Christol syndrome is a rare genodermatosis that manifests with the classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis; yet it may be accompanied by milia, ichthyosis, neurological symptoms, and visceral malignancies. Symptom onset is nonsimultaneous, and hence the diagnosis is often made late and the opportunity of counseling and following up is missed. This article aims toward providing a comprehensive review of the clinical perspective of Bazex-Dupré-Christol syndrome, highlighting the major clinical variants to facilitate reaching a prompt diagnosis. In addition, the molecular aspects are discussed. Though the gene responsible for this syndrome is yet nonspecified, it is confirmed to be localized to the long arm of chromosome X.
© 2018 The International Society of Dermatology.

Entities:  

Keywords:  Basal cell carcinoma; follicular atrophoderma; hypotrichosis

Mesh:

Year:  2018        PMID: 29808590     DOI: 10.1111/ijd.14065

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN: 0011-9059            Impact factor:   2.736


  1 in total

Review 1.  Cutaneous Expression of Familial Cancer Syndromes.

Authors:  Anne-Johanne Andersen; Juliane Schierbeck; Anette Bygum; Nieves Puente-Pablo
Journal:  Acta Derm Venereol       Date:  2021-07-30       Impact factor: 3.875

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.