SNP Shot: Genomic Insights

Steatocystoma multiplex is a skin condition marked by numerous benign cysts called steatocystomas. These cysts originate in the sebaceous glands, which are responsible for producing sebum, an oily substance that keeps skin and hair moisturized. The cysts themselves are filled with sebum.

This condition usually manifests during the teenage years, with steatocystomas appearing most commonly on the trunk, neck, upper arms, and upper thighs. Typically, these cysts are the only symptom. However, some individuals may also experience minor dental or nail abnormalities.

Inheritance:

Steatocystoma multiplex caused by mutations in the KRT17 gene follows an autosomal dominant inheritance pattern. This means only one copy of the mutated gene is needed to cause the condition. In the majority of cases, the disorder is passed down from a parent who also has steatocystoma multiplex. When KRT17 gene mutations aren't identified as the cause of steatocystoma multiplex, a family history of the condition is generally absent.