1. Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects
- Author
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Manahel Mahmood AlSabbagh and Mariam A. Baqi
- Subjects
medicine.medical_specialty ,Skin Neoplasms ,Follicular atrophoderma ,business.industry ,Ichthyosis ,Genodermatosis ,Keratosis ,Dermatology ,Hypotrichosis ,medicine.disease ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Milia ,Carcinoma, Basal Cell ,030220 oncology & carcinogenesis ,medicine ,Bazex–Dupré–Christol syndrome ,Humans ,Basal cell carcinoma ,Symptom onset ,Nervous System Diseases ,business - 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.
- Published
- 2018
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