(1) Background: Genodermatoses are a clinically and genetically heterogenous group
of inherited skin disorders. Diagnosing inherited skin diseases is a challenging task
due to their rarity and diversity. Dermoscopy is a non-invasive, easily accessible,
and rapid tool used in dermatology not only for diagnostic processes but also for
monitoring therapeutic responses. Standardized terminologies have been published for
its proper use, reproducibility, and comparability of dermoscopic terms. (2) Methods:
Here, we aimed to investigate dermoscopic features in various genodermatoses by conducting
a systematic review and comparing its results to our own findings, data of patients
diagnosed with genodermatoses at the Department of Dermatology, Venereology and Dermatooncology,
Semmelweis University. (3) Results: Our systematic search provided a total of 471
articles, of which 83 reported both descriptive and metaphoric dermoscopic terminologies
of 14 genodermatoses. The literature data were then compared to the data of 119 patients
with 14 genodermatoses diagnosed in our department. (4) Conclusion: Dermoscopy is
a valuable tool in the diagnosis of genodermatoses, especially when symptoms are mild.
To enable the use of dermoscopy as an auxiliary diagnostic method, existing standardized
terminologies should be extended to more genodermatoses.
