Bazex-Dupré-Christol Syndrome: Comprehensive Imaging Guide and Clinical Overview
Bazex-Dupré-Christol Syndrome is a rare genodermatosis characterized by a triad of clinical features: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinomas. The syndrome is named after the physicians who first described it, Bazex, Dupré, and Christol. It is inherited in an X-linked dominant pattern, which means that 50% of children of an affected female and all daughters of an affected male will inherit the condition.
## Overview
The etymology of Bazex-Dupré-Christol Syndrome stems from its initial description by the physicians Bazex, Dupré, and Christol. Clinically, the syndrome presents with early manifestations that may not be recognized at birth but become apparent during early childhood. Key clinical findings include congenital hypotrichosis, follicular atrophoderma, and the development of basal cell carcinomas, which are more severe in males than in females.
## Key Imaging Features
The following are the top radiological findings for Bazex-Dupré-Christol Syndrome:
- Follicular atrophoderma may be visualized as small depressions or pits in the skin, although detailed imaging is typically not necessary for this feature.
- Basal cell carcinomas are often located in sun-exposed areas like the face and are best visualized using imaging modalities such as dermoscopy or ultrasound for superficial evaluation.
- Imaging of the basal cell carcinomas involves looking for typical features like a well-defined margin and a hypodense or hypoechoic appearance on CT or ultrasound scans, respectively.
## Pathophysiology
The pathophysiology of Bazex-Dupré-Christol Syndrome involves mutations in the ACTRT1 gene, which affects the assembly of cilia and is linked to the development of clinical manifestations. The syndrome results in poorly developed hair follicles, leading to hypotrichosis and follicular atrophoderma. The development of basal cell carcinomas is a hallmark of this condition, likely due to underlying genetic predispositions affecting skin cells.
## Differential Diagnosis
When diagnosing Bazex-Dupré-Christol Syndrome, it’s essential to consider other conditions that present with similar skin manifestations. Basal cell nevus syndrome, for instance, shares some features like basal cell carcinomas but differs in the presence of jaw keratocysts and other distinctive abnormalities. Acrokeratosis paraneoplastica (Bazex syndrome) is another condition that presents with skin lesions but is associated with internal malignancies, unlike Bazex-Dupré-Christol Syndrome.
## Imaging Protocols and Techniques
For the imaging of Bazex-Dupré-Christol Syndrome, the following approaches are recommended:
- Ultrasound can be useful for superficial evaluation of basal cell carcinomas and assessing depth.
- CT scans may be employed to evaluate the extent of deeper lesions or if there is suspicion of rare internal involvement, although this is not typical.
- Dermoscopy is valuable for detailed examination of skin lesions, helping to differentiate between benign and malignant features.
It is crucial to adopt a multidisciplinary approach, combining clinical evaluation with imaging techniques to accurately diagnose and manage Bazex-Dupré-Christol Syndrome.
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