Understanding Bothnian Type Palmoplantar Keratoderma: A Rare Genetic Condition
Bothnian type palmoplantar keratoderma (PPKB) is a rare genetic skin condition characterized by thickened skin on the palms and soles, caused by a mutation in the AQP5 gene. This condition leads to extreme skin wrinkling and swelling when exposed to water, known as the 'hand-in-the-bucket' sign. PPKB is a lifelong condition that does not affect internal organs. Diagnosis can be challenging due to its rarity, often requiring visits to multiple healthcare providers. The condition is non-progressive, meaning it does not worsen over time, and is inherited in an autosomal dominant pattern, with a 50% chance of being passed to offspring.