What are the symptoms during tuberous sclerosis treatment?

Tuberous sclerosis can invade multiple organs and tissues, causing many adverse effects on physical health. Therefore, patients should detect these symptoms in time and take effective treatments in time. The most common symptoms are hard waxy papules or granules ranging in size from a needle tip to a bean. Some patients will experience neurological symptoms, such as epileptic seizures.

1. Skin symptoms

Skin lesions are the most common and often the primary basis for diagnosis. About 90% of patients have sebaceous adenomas, which are usually discovered between the ages of 2 and 5. They can be seen on the cheeks, mandible, forehead, eyelids, and nose, and are symmetrically distributed. They are light red or reddish brown, hard, waxy papules that fade when pressed and can range in size from a pinhead to a bean. Sebaceous adenomas occasionally are present at birth and become more prominent during puberty due to rapid growth. 85% of patients can see depigmented spots, which are leaf-shaped, oval or irregular white spots, and can appear on the trunk and upper and lower limbs. They are more obvious under ultraviolet light. 20% of patients may have green granular skin spots, mostly on the skin of the waist and lower back. The spots are locally thickened and rough, slightly raised above the skin, gray-brown in color, and range in diameter from a few millimeters to 5 to 6 cm. Subungual fibroma occurs during adolescence, grows from the nail groove, and is sometimes the only skin lesion of this disease. In addition, café au lait pigment spots, cutaneous fibromas, etc. can be seen.

2. Neurological symptoms

Epileptic seizures and intellectual disability are the hallmarks of this disease. Seizures may occur early in the disease, years before skin lesions or intracranial calcifications occur. Epilepsy can manifest in any form. It may initially present as infantile spasms, which may then turn into generalized or partial seizures. Some patients may only have epileptic seizures without other clinical manifestations. 60% to 70% of patients have varying degrees of intellectual impairment, which often appears at the age of 2 to 3 years, or even earlier. Almost all people with intellectual disabilities have epileptic seizures, while about 70% of people with normal intelligence have epileptic seizures. People who develop epilepsy at an early age are more likely to suffer from intellectual impairment. A very small number of patients only show mental retardation without epileptic seizures. Some people also show abnormal personality and behavior, emotional disorders and mental abnormalities. Occasionally, there are symptoms such as limb paralysis, ataxia, and involuntary movements. A small number of patients develop hydrocephalus and intracranial hypertension due to subependymal nodules blocking the cerebrospinal fluid circulation pathway.

3. Other manifestations

This disease is often accompanied by tumors of other organs, such as bone tumors, pulmonary cystic fibrosis tumors, cardiac rhabdomyomas, oral fibromas or papillomas, etc. Retinal lens tumors are also one of the characteristic manifestations of this disease, usually located at the posterior pole of the eyeball. It is yellowish-white or grayish-yellow with a slight glint, round or oval in shape, with a slightly raised and irregular surface and a gear-shaped edge, and is half to twice the size of the optic disc. And there is a trend of increasing with age. Lens tumors usually cause no symptoms and only occasionally cause blindness. Other eye manifestations may include microphthalmos, exophthalmos, glaucoma, lens opacities, cataracts, vitreous hemorrhage, retinitis pigmentosa, retinal hemorrhage and primary optic atrophy. In addition, optic disc edema and secondary optic atrophy may occur due to increased intracranial pressure.