Tuberous sclerosis complex
Cutaneous clues, diagnostic criteria and multidisciplinary surveillance in TSC.
Updated: 2026-09-13
Written for clinicians and medical students
This section is a teaching reference for doctors, residents and medical students. It is not patient guidance and not a substitute for clinical examination, and it must not be used for self treatment.
Cutaneous clues
- Hypomelanotic macules may be present at birth and are enhanced by Wood lamp. Three or more lesions at least 5 mm are a major diagnostic feature [1].
- Facial angiofibromas, a shagreen patch, ungual fibromas and fibrous cephalic plaques emerge at different ages. Dental pits and intraoral fibromas are also recognised features [1].
- Diagnosis can be clinical or molecular. A pathogenic TSC1 or TSC2 variant is diagnostic even before all clinical manifestations appear [1].
Whole-patient surveillance
- Baseline assessment includes brain MRI, electroencephalography when indicated, renal imaging and function, blood pressure, cardiac assessment in children, eye examination, dental review and skin examination [1,2].
- New seizures, developmental regression, headache, visual change, flank pain or breathlessness require prompt assessment because morbidity is often extracutaneous.
- Skin-directed options include vascular laser, topical mTOR inhibition and surgery in selected lesions, coordinated with the multidisciplinary TSC plan [2].