Other Cowden syndrome
ICD-10 Q85.82 is a billable code used to indicate a diagnosis of other cowden syndrome.
Other Cowden syndrome is a rare genetic disorder characterized by multiple hamartomas and an increased risk of certain cancers, particularly breast and thyroid cancers. It is part of the PTEN hamartoma tumor syndrome, which is caused by mutations in the PTEN gene. Clinically, patients may present with skin lesions such as trichilemmomas, acral keratoses, and fibromas, as well as breast abnormalities including fibrocystic changes and adenomas. Other congenital malformations associated with this syndrome can include abnormalities of the spleen, adrenal glands, and other rare malformations. The condition often manifests in childhood or early adulthood, and early diagnosis is crucial for management and surveillance of associated malignancies. Genetic counseling is recommended for affected individuals and their families due to the hereditary nature of the disorder.
Detailed family history, growth and development assessments, and descriptions of skin lesions.
Pediatric patients presenting with skin lesions, family history of Cowden syndrome, or unexplained growth abnormalities.
Attention to the developmental milestones and psychosocial impact of congenital anomalies.
Genetic testing results, family pedigree, and detailed descriptions of phenotypic manifestations.
Patients undergoing genetic counseling for familial risk assessment or presenting with multiple hamartomas.
Understanding the implications of PTEN mutations and the need for cancer surveillance.
Used for confirming diagnosis in patients suspected of having Cowden syndrome.
Document the indication for testing and results.
Genetic specialists should ensure comprehensive family history is included.
Coding Q85.82 is crucial for identifying patients with Other Cowden syndrome, ensuring they receive appropriate surveillance for associated malignancies and management of congenital anomalies.
