Takahara disease, also known as infantile systemic hyalinosis (ISH), is a rare and severe autosomal recessive disorder characterized by the excessive accumulation of hyaline material in various organs and tissues of the body. The disease primarily affects infants and young children.
The hallmark of Takahara disease is the deposition of abnormal hyaline material, which is a translucent proteinaceous substance, in multiple organs such as the skin, bones, joints, gastrointestinal tract, heart, and blood vessels. This deposition leads to progressive organ dysfunction and failure.
Clinically, affected individuals may exhibit a range of symptoms including severe joint contractures limiting mobility, thickened and hardened skin, facial dysmorphism, growth retardation, and various systemic complications. Additional characteristic features may include delayed development, intellectual disability, and recurrent infections.
Takahara disease is caused by mutations in the ANTXR2 gene, which is responsible for encoding a protein involved in the regulation of collagen deposition and organization. The inheritance pattern is autosomal recessive, meaning that an individual requires two copies of the mutated gene (one from each parent) to manifest the disease.
Diagnosis of Takahara disease involves a combination of clinical evaluation, detailed medical history, radiographic imaging, and skin biopsy analysis to identify the accumulation of hyaline material. Genetic testing can be performed to confirm the presence of ANTXR2 gene mutations.
Currently, there is no specific cure for Takahara disease. Treatment primarily focuses on symptom management, supportive care, and prevention of complications. Multidisciplinary medical teams involving various specialists work together to provide comprehensive care for affected individuals and improve their quality of life.
