Genetic Information for Patients with Mosaic Disorders

Mosaic disorders, which include epidermal nevus syndromes (ENS) such as nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, and Becker’s nevus, have varied genetic factors that contribute to their development. These genomic discoveries are expanding rapidly and a recent review looked at advances in the genetic knowledge about these disorders and highlighted promising findings.

The review looked in-depth at nine ENS to outline the genetics of each syndrome plus the ways in which the genetic foundation may be related to clinical features of each disorder. The authors also noted other considerations such as risk of transmission to offspring, risk of future malignancies, and possible skeletal anomalies that may arise.

They state that in the past, further evaluation of an ENS may have been overlooked. However, now we might consider diagnostic and screening laboratory investigations if abnormalities are suspected. Such factors as location of the EN can affect the way further evaluation may proceed. For example, a large EN on the head or neck may signal an underlying brain abnormality.

Overall, the authors suggest that given the pace of genetic discovery, it is worth the effort to review literature frequently when caring for patients with mosaic disorders.