Tuberous sclerosis complex, beware of these characteristics

Tuberous sclerosis complex can attack multiple organs and cause a lot of damage to organ tissues. It usually leads to intellectual disabilities and tumors, and can even cause epilepsy. Therefore, the harm caused to different parts of the human body is different. As a patient with tuberous sclerosis complex, you must be careful about these characteristics and make clear judgments in your daily life.

What does tuberous sclerosis complex mean?

Because this disease often invades multiple organs and tissues, and almost any organ or tissue can be affected, the clinical manifestations are complex and varied depending on the location of the lesion. However, epileptic seizures, facial sebaceous adenomas and intellectual disability are the most common. Some patients may have only one of the three symptoms, while others may have no symptoms at all and the disease is discovered during pathological examination.

Tuberous sclerosis disease risk

1. Skin symptoms: Skin lesions are the most common and often the main 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 mental retardation are the characteristics 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.