DOI: 10.1553/skindeep.2025.151578

Authors: Nikoletta Nagy, Marta Szell

Abstract: In the last two decades, the elucidation of the genetic background of monogenic dental diseases has been significantly enhanced. In the Online Mendelian Inheritance in Man (OMIM) database there are 144 isolated or syndromic ones. Out of this 55 rare monogenic dental diseases (38%) are accompanied by cutaneous manifestations. In this study, we review the group of rare monogenic diseases with dental and cutaneous manifestations and observed the most frequent skin findings (hypohidrosis, hyperkeratosis, dry skin and skin fragility), nail symptoms (dysplastic nails and hypoplastic nails) and hair abnormalities (sparse hair, alopecia and hypertrichosis) and highlighted the genes associated with these frequent clinical features. We also summarized the frequent dental anomalies (missing teeth, abnormal shape of teeth, enamel abnormalities and delayed eruption or uneruption of teeth). Among the additional non-dental and non-cutaneous manifestations ophthalmological, skeletal and otorhinolaryngological abnormalities are the most frequently developing ones. Regarding the genetic background, there are 42 disease-causing genes associated with the 55 entities. Here, we also highlighted the WNT10A, CTSC and EDA1 associated diseases in order to demonstrate how different variants of these genes can lead to the development of different phenotypes. Reviewing rare monogenic dental-cutaneous diseases, the association of the identified special clinical features may raise the attention of the specialist in everyday clinical parctice and help in the identification of the underlying genetic background.

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