TSC is a clinical diagnosis. The salient features of the disease have been divided into major and minor features. A definite diagnosis of TSC requires the presence of 2 major features or 1 major feature plus 2 minor features. Probable TSC is defined as the presence of 1 major feature plus 1 minor feature, and possible TSC is defined as 1 major feature or 2 or more minor features.4
The major features are:
- Facial angiofibromas or forehead plaque
- Nontraumatic ungual or periungual fibromas.
- Hypomelanotic macules (ash-leaf spots); 3 or more must be present.
- Shagreen patch (connective tissue nevus).
- Multiple retinal nodular hamartomas.
- Cortical tuber.
- Subependymal nodule.
- Subependymal giant cell astrocytoma.
- Cardiac rhabdomyoma, single or multiple.
- Renal angiomyolipoma.1,2 The minor features include:
- Multiple randomly distributed pits in the dental enamel.
- Bone cysts (radiographic confirmation is sufficient).
- Cerebral white matter radial migration lines.
- Gingival fibromas.
- Nonrenal hamartoma.
- Retinal achromic patch.
- "Confetti" skin lesions.
- Multiple renal cysts.1,2,
Initial evaluation. In a patient in whom TSC is suspected, the initial evaluation requires multidisciplinary assessments from specialists in a variety of fields, including genetics, neurology, ophthalmology, nephrology, and dermatology; specialists in neurosurgery, plastic surgery, and dentistry may also be needed.1 In addition, because patients are at increased risk for endocrine disorders such as hypothyroidism and precocious puberty, evaluation by an endocrinologist may also be required.1,3
- Thorough medical and family history.
- Physical examination, including examination with a Wood lamp to check for hypopigmented cutaneous macules.
- Cranial CT or MRI scans.
- Renal ultrasonography.
- Ophthalmological examination.
- Dental/oral examination.
- ECG and/or echosonography if concerning cardiac symptoms are present.2