Pitkäraajaisuus

Pitkäraajaisuus, also known as limb overgrowth, is a rare congenital condition characterized by an excessive and disproportionate growth of one or more limbs. This can affect arms or legs, and may involve the entire limb or specific segments. The condition can manifest in various degrees, from mild enlargement to significant length discrepancies that can cause functional and aesthetic concerns.

The exact causes of pitkäraajaisuus are not fully understood, but it is believed to be related to genetic mutations affecting growth regulation during fetal development. In some cases, it can be associated with syndromes like Proteus syndrome or Klippel-Trénaunay syndrome, which involve a complex array of vascular, skeletal, and soft tissue abnormalities. However, isolated limb overgrowth without other systemic features also occurs.

Diagnosis typically involves clinical examination and imaging studies such as X-rays, CT scans, or MRIs to assess the extent and nature of the overgrowth. Genetic testing may be considered if an underlying syndrome is suspected.

Treatment strategies depend on the severity of the condition and the resulting functional limitations. Options may include surgical interventions such as limb lengthening or shortening, osteotomies to correct deformities, or in severe cases, amputation. Physical therapy and orthopedic management are crucial for optimizing function and addressing associated musculoskeletal issues. The long-term prognosis varies widely depending on the specific presentation and the effectiveness of treatment.