Tuberous sclerosis

Patient of age 20 years has presented to dermatologist with swellings around alae of nose and temporal aspect of scalp which are insidious in onset gradually increasing in number and there is no h/o pain,trauma,altered sensorium itching,discharge, from those swelling.

Patient had generallised tonic clonic convulsions since two yrs of age.

He had been on anti-convulsants,since then he had been seizure free since 2years.

On examination

Adenoma sebaceum
Cutaneous angiofibroma
Shagreen patches 

with nodules

Subungual fibrosis
Cutaneous angiofibroma

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes benign tumours to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. 

Features-

1HeadFacial angiofibromas or forehead plaqueInfant – adult

2Fingers and toesNontraumatic ungual or periungual fibromaAdolescent – adult

3SkinHypomelanotic maculesInfant – childMore than three.

4SkinShagreen patch (connective tissue nevus)Child

5BrainCortical tuberFetus

6BrainSubependymal noduleChild – adolescent

7BrainSubependymal giant cell astrocytomaChild – adolescent

8EyesMultiple retinal nodular hamartomasInfant

9HeartCardiac rhabdomyomaFetusSingle or multiple.

10LungsLymphangiomyomatosisAdolescent – adult

11KidneysRenal angiomyolipomaChild – adult