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Bazex‐Dupré‐Christol syndrome: review of clinical and molecular aspects
Author(s) -
AlSabbagh Manahel M.,
Baqi Mariam A.
Publication year - 2018
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.14065
Subject(s) - genodermatosis , medicine , hypotrichosis , milia , dermatology , ichthyosis , basal cell carcinoma , vismodegib , pathology , basal cell , genetics , gene , biology
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.

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