SNP Shot: Genomic Insights

Cole disease is a skin condition characterized by areas of lighter-than-normal skin (hypopigmentation), primarily on the limbs, and the presence of small, thickened skin spots on the palms and soles (punctate palmoplantar keratoderma). These skin changes are typically apparent at birth or develop during infancy.

Some individuals with Cole disease also experience abnormal calcium deposits (calcifications) within tendons, potentially leading to painful movement. These calcifications can also occur in the skin or breast tissue.

Inheritance:

Cole disease follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is required to cause the condition. Often, individuals with Cole disease inherit the mutation from an affected parent. However, the condition can also arise from a new gene mutation in individuals with no family history of Cole disease.