Tuberous sclerosis
ICD-10 Q85.1 is a billable code used to indicate a diagnosis of tuberous sclerosis.
Tuberous sclerosis is a genetic disorder characterized by the growth of benign tumors in multiple organs, including the brain, skin, kidneys, and heart. It is caused by mutations in either the TSC1 or TSC2 genes, leading to the formation of hamartomas. Clinically, patients may present with a variety of symptoms, including seizures, developmental delays, skin lesions such as angiofibromas, and renal complications. The condition is often diagnosed in childhood, and its manifestations can vary widely among individuals. In addition to the tumors, patients may also exhibit other congenital malformations, such as cardiac rhabdomyomas and pulmonary lymphangioleiomyomatosis. Early diagnosis and management are crucial to address the potential complications associated with the disorder, including neurological and renal issues. Genetic counseling is recommended for affected families to understand the inheritance patterns and risks for future pregnancies.
Detailed records of developmental milestones, neurological assessments, and any surgical interventions.
Pediatric patients presenting with seizures, skin lesions, or developmental delays requiring multidisciplinary management.
Attention to the age of onset and progression of symptoms, as well as family history of similar conditions.
Genetic test results, family history, and counseling notes regarding inheritance patterns.
Patients undergoing genetic testing for suspected tuberous sclerosis or related syndromes.
Understanding the implications of genetic findings for family planning and management of the condition.
Used when confirming a diagnosis of tuberous sclerosis through genetic testing.
Documentation of clinical indications for testing and results.
Genetic counseling notes should accompany the testing documentation.
Common manifestations include skin lesions such as angiofibromas, seizures, developmental delays, and renal tumors. Each patient may present with a unique combination of these symptoms.
