Tuberous sclerosis

There are a set of diagnostic criteria have been developed to aid in the diagnosis of tuberous sclerosis which have been adapted from Roach et al 1998 1

* definitive TS complex : either 2 major features or 1 major and 2 minor
* probable TS complex : 1 major and 1 minor
* possible TS complex : either 1 major or 2 or more minor

Major features

1. facial angiofibroma or forehead plaque
2. non traumatic ungual or periungual fibroma
3. hypomelanotic macules (3 or more)
4. shagreen patch
5. multiple retinal nodular hamartomas
6. cortical tuber
7. subependymal nodule
8. subependymal giant cell astrocytoma
9. cardiac rhabdomyoma
10. lymphangiomyomatosis
11. renal angiomyolipoma

Minor features

1. dental pits : multiple and randomly distributed
2. rectal polyps : hamartomatous
3. bone cysts
4. cerebral white matter migration lines
5. gingival fibromas
6. non renal hamartoma
7. retinal achromic patch
8. 'confetti' skin lesions
9. multiple renal cysts

Article Author : Dr Frank Gaillard, Radiopaedia

References

1. Roach E.S., Manuel R. Gomez and Hope Northrup. “Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria.” J Child Neurol 13, no. 12 (December 1, 1998): 624-628. doi:10.1177/088307389801301206.

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