The Role of RCM and LC-OCT in Genodermatoses Associated with Skin Cancer: A Narrative Review.

Abstract

Patients with genodermatoses, such as nevoid basal cell carcinoma syndrome, recessive dystrophic epidermolysis bullosa, familial atypical multiple mole and melanoma syndrome, xeroderma pigmentosum and ichthyosis with confetti, face a high risk of skin malignancies. While dermoscopy significantly improves diagnostic accuracy compared to clinical examination, its specificity remains limited when evaluating ambiguous lesions in these complex patients. This narrative review examines the role of reflectance confocal microscopy and line-field confocal optical coherence tomography in high-risk populations. By enabling the in vivo visualization of histologic-like features at cellular resolution, these noninvasive imaging technologies overcome the limitations of dermoscopy. The analysis of illustrative cases demonstrates that integrating these tools enhances both sensitivity and specificity, allowing for a precise differentiation between true malignancies and benign mimics. While reflectance confocal microscopy remains the standard for melanocytic criteria, line-field confocal optical coherence tomography complements it by overcoming depth limitations. Consequently, the use of combined noninvasive imaging supports a more conservative management strategy, potentially reducing the number of unnecessary excisions while ensuring the timely detection of skin cancer in patients with rare genetic syndromes.