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MSDMSD Довідникверсія для фахівців
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Міжнародні діагностичні критерії комплексу туберозного склерозу (TSC)

Criterion

Comments

Major features*

Hypomelanotic macules

≥ 3, at least 5 mm in diameter

Angiofibromas (adenoma sebaceum) or fibrous cephalic plaque

≥ 3 angiofibromas

Subungual/ungual fibromas

≥ 2

Shagreen patch

—

Multiple retinal hamartomas

—

Multiple cortical tubers, radial migration lines, or both

—

Subependymal nodules

≥ 2

Subependymal giant cell astrocytoma

—

Cardiac rhabdomyoma

—

Lymphangioleiomyomatosis†

—

Angiomyolipomas†

≥ 2

Minor features*

“Confetti” skin lesions

Areas of stippled hypopigmentation, typically on the extremities

Pitting of dental enamel

≥ 3

Intraoral fibromas

≥ 2

Retinal achromic patch

—

Multiple renal cysts

—

Nonrenal hamartomas

—

Sclerotic bone lesions

—

* A definite diagnosis of TSC requires either of the following:

  • The identification of either a TSC1 or TSC2 pathogenic mutation by molecular genetic testing

  • Two major features or 1 major feature with 2 minor features

A possible diagnosis of TSC requires the following:

  • Either 1 major feature or ≥ 2 minor features

† A combination of the two major clinical features (lymphangioleiomyomatosis and angiomyolipomas) without other features does not meet the criteria for a definite diagnosis.

Data from Northrup H, Aronow ME, Bebin EM, et al: Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol 123:50-66, 2021. doi: 10.1016/j.pediatrneurol.2021.07.011 2013

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