Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

The document describes a study on a genetic condition in two siblings from a consanguineous family, who exhibited palmoplantar keratoderma, leukonychia, and unusually curly scalp hair. Researchers identified a homozygous mutation in the FAM83G gene, which led to a protein structure change and is believed to affect Wnt signaling—a pathway important for hair and skin development. The mutation was associated with abnormal hair shafts and altered skin cell proliferation. The study suggests that FAM83G is important for skin and hair homeostasis and could have implications for understanding hair loss conditions. However, the study's sample size is limited to the two siblings, which may affect the generalizability of the findings.