Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis

Table 2 Diagnostic criteria

Genetic	Identification of pathogenic mutations of TSC1 or TSC2 in DNA from healthy tissue is sufficient to establish a definitive diagnosis of tuberous sclerosis complex
Clinical	Major	Minor
	Hypomelanotic macules (≥ 3, at least 5 mm in diameter)	Confetti-like skin lesions
	Angiofibromas (≥ 3) or fibrous cephalic plaque	Pitted teeth (> 3)
	Ungual fibromas (≥ 2)	Intraoral fibromas
	Shagreen patch	Retinal achromic patch
	Multiple retinal hamartomas	Multiple renal cysts
	Cortical dysplasia*	Extra-renal hamartomas
	Subependymal nodules
	Subependymal giant cell astrocytoma
	Cardiac rhabdomyomas
	Lymphangioleiomyomatosis (LAM)**
	Angiomyolipoma (≥ 2)**
Definitive diagnosis:	2 major criteria or 1 major criterion + ≥ 2 minor criteria
Possible diagnosis	1 major criterion or ≥ 2 minor criteria

*Includes tubers and cerebral white-matter radial migration lines
**LAM and angiomyolipomas on their own without other alterations do not meet the criteria

ISSN: 1750-1172