How to diagnose tuberous sclerosis? What are the symptoms?

Skin injury is the most common symptom in patients with tuberous sclerosis. The characteristic symptom is sebaceous adenoma, which is distributed in the triangle of nose and mouth in a symmetrical butterfly shape. It is a hard wax-like papule with reddish or reddish brown tip to the size of broad bean. About 90% of papules appear before the age of 4, and gradually increase with age. After puberty, it can merge into a block, which can occur on the forehead and rarely involve the upper lip. Therefore, it is particularly important for the early diagnosis and treatment of tuberous sclerosis.

Examination of tuberous sclerosis:

1. Lung film examination showed that there was a honeycomb diffuse cystic shadow.

2. In X-ray and CT scans of the head, most patients can see calcified brain nodules. CT scan showed that the density around the ventricle was increased, and many places were scattered in nodular shadows, which looked like tears.

3. EEG showed seizures and high amplitude disorder.

4. X-ray films of phalanges of hands, feet and fingers show pseudocyst-like lesions, with irregular thickening of metacarpal cortex and irregular thickening of spine, pelvis or long bones.