From the Guidelines
Diagnostic Criteria for Tuberous Sclerosis Complex (TSC)
The diagnostic criteria for Tuberous Sclerosis Complex (TSC) involve a combination of clinical features, including skin lesions, neurological symptoms, and organ involvement, with recent updates making the criteria more specific [ 1 ].
Key Clinical Features
Key signs include:
- Adenoma sebaceum (facial angiofibromas)
- Ash leaf spots (hypopigmented macules)
- Shagreen patches (areas of thickened, elevated skin)
- Ungual fibromas (periungual or subungual fibromas) Neurological symptoms may include seizures, developmental delay, and intellectual disability [ 1 ].
Diagnostic Approach
A thorough physical examination, medical history, and diagnostic tests such as MRI or CT scans of the brain, kidneys, and other organs may be necessary to confirm the diagnosis [ 1 ]. Genetic testing for mutations in the TSC1 or TSC2 genes can also aid in diagnosis, although 10% to 15% of individuals that meet the clinical criteria for TSC do not have an identifiable germline P/LP variant in TSC1 or TSC2 [ 1 ].
Management Considerations
Medications such as vigabatrin may be used to treat seizures, and everolimus or sirolimus may be used to treat subependymal giant cell astrocytomas (SEGAs) or renal angiomyolipomas [ 1 ]. Regular monitoring and follow-up with a multidisciplinary team, including a neurologist, dermatologist, and nephrologist, is essential to manage the condition and prevent complications [ 1 ].
Some key points to consider in the management and surveillance of TSC include:
- SEGA: Brain MRI starting at diagnosis, every 1–3 years if asymptomatic, until 25 years of age [ 1 ]
- Renal AML: Blood pressure and GFR monitoring, abdominal US until 12 years of age, then renal MRI [ 1 ]
- Lymphangiomyomatosis: Chest CT at 18 years, once [ 1 ]
- Cardiac rhabdomyoma: ECHO at diagnosis, especially if <3 years old [ 1 ]
- Retinal astrocytoma: Complete ophthalmologic exam with dilated fundoscopy at diagnosis, annual [ 1 ]
- Skin angiofibromas: Dermatology evaluation at diagnosis, annual [ 1 ]
From the Research
Diagnostic Criteria for Tuberous Sclerosis Complex (TSC)
The diagnostic criteria for TSC are based on a combination of major and minor criteria, as defined by a consensus conference updated in 2012 2, 3. The major criteria include:
- Hypomelanotic macules
- Angiofibroma or fibrous cephalic plaques
- Ungual fibromas
- Shagreen patches
- Cortical dysplasias
- Subependymal nodules
- Subependymal giant cell astrocytomas
- Cardiac rhabdomyomas
- Lymphangioleiomyomatosis
- Angiomyolipomas
The minor criteria include:
- Confetti skin lesions
- Dental enamel pits
- Intraoral fibromas
- Retinal hamartomas
- Multiple renal cysts
- Bone cysts
Clinical Features of TSC
TSC can present with a wide range of clinical features, including:
- Dermatological manifestations, such as angiofibromas, ungual fibromas, and shagreen patches 4, 3
- Neurological manifestations, such as seizures, intellectual disability, and cortical tubers 4, 5, 6
- Cardiac manifestations, such as cardiac rhabdomyomas 5
- Renal manifestations, such as angiomyolipomas and renal cysts 5, 6
- Ocular manifestations, such as retinal hamartomas 5
Diagnosis of TSC
Diagnosis of TSC is based on a combination of clinical features, imaging studies, and genetic testing 2, 5. Imaging studies, such as CT and MRI, can help identify characteristic lesions, such as subependymal nodules and cortical tubers 4, 5. Genetic testing can also be used to confirm the diagnosis of TSC 5.
Importance of Skin Examination
Skin examination is crucial in the diagnosis of TSC, as dermatological manifestations are common and can be an important clue to the diagnosis 2, 3, 6. A careful skin examination can help identify characteristic lesions, such as angiofibromas, ungual fibromas, and shagreen patches, which can be used to support the diagnosis of TSC.