Brooke–Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma

Summary

Brooke–Spiegler syndrome (BSS) is a rare, autosomal dominant disorder characterized by multiple adnexal tumours, especially trichoepitheliomas, cylindromas and occasionally spiradenomas. These lesions usually begin to appear in the second or third decade of life. Malignant transformation of pre-existing tumours may occur. In vivo reflectance-mode confocal microscopy (RCM) is a noninvasive method that can be used to visualize the epidermis and the upper dermis at almost histological resolution. It has been used to evaluate several skin conditions, especially malignant lesions, and has been reported to be useful for differentiating between malignant and benign skin tumours. Only a few studies have reported on the use of confocal microscopy to characterize the features of benign adnexal neoplasms. We present a patient with BSS who presented to our clinic with multiple skin tumours. The possible utility of RCM for identifying adnexal neoplasms is emphasized in this report, which also describes the observed microscopic features.

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