Learning objectives
To characterize sclerotic bone lesions detected by CT in a large cohort of patients diagnosed with tuberous sclerosis complex (TSC).
To identify sclerotic bone lesions in tuberous sclerosis complex patients in order to avoid misdiagnosing them.
Background
Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including benign hamartomatous tumors in multiple organs. It is the second most common phakomatosis behind neurofibromatosis type 1 and affects approximately 1.5 million people worldwide with a birth incidence of 1 in 6000. [1]
Around one third of cases of TSCare familial and caused by mutations in two tumor suppressor genes, TSC1 and TSC2. The other two thirds are sporadic and due to spontaneous mutations.
TSC1 and TSC2 encode the...
Findings and procedure details
A retrospective analysis was performed from a pool of 66 patients, ranging in age from 4-76 years, with a definite diagnosis of TSC from our hospital databases. Only 40 patients had useful imaging studies (chest, body and cranial CTs) for the evaluation of sclerotic bone lesions, (80%) were females and (20%) males with a median age of 42.
Two radiologists compared between each other the number and distribution in the skeletal system of the sclerotic bone lesions in the CT scans.
The following information was...
Conclusion
This study demonstrates that a potential diagnosis of TSC can be suspected based on the frequency, size and location pattern of sclerotic bone lesions in adult patients. As a result, SBLs could serve as a potential imaging biomarker in the diagnostic guidelines for TSC. The reliable diagnosis of TSC is of high clinical relevance, as novel therapies can be employed to treat organ manifestations and prevent complications of TSC.
Personal information and conflict of interest
S. P. Mazzini; Barcelona/ES - nothing to disclose S. Valverde Lavirgen; Barcelona, BARC ELONA/ES - nothing to disclose S. Bonilla; Barcelona/ES - nothing to disclose C. A. Nuñez Peralta; Barcelona/ES - nothing to disclose J. Llauger Rosselló; Barcelona/ES - nothing to disclose
References
Manoukian SB, Kowal DJ. Comprehensive imaging manifestations of tuberous sclerosis. American Journal of Roentgenology. 2015 May;204(5):933-43.
Brakemeier S, Vogt L, Adams LC, Zukunft B, Diederichs G, Hamm B, Budde K, Eckardt KU, Makowski MR. Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex. Scientific reports. 2018 Jan 17;8(1):953.
Northrup H, Krueger DA, Roberds S, Smith K, Sampson J, Korf B, Kwiatkowski DJ, Mowat D, Nellist M, Povey S, de Vries P. Tuberous sclerosis complex diagnostic criteria update: recommendations of...