Tuberous sclerosis

Introduction Tuberousous sclerosis is mostly autosomal dominant and has sporadic cases. The main lesions are the glial nodules of the central nervous system and the sebaceous adenoma of the skin (face). Other organ tumors. Typical symptoms are: a pale red, butterfly-like sebaceous adenoma with seizures and mental retardation. Symptoms vary in severity, some have only skin symptoms and others are asymptomatic, some have frequent seizures and severe mental disorders.

Cause

It is a complex dysplasia caused by a single autosomal dominant gene inheritance. The main lesions are glial nodules of the central nervous system and sebaceous adenomas of the skin (face). Other organ tumors. Typical symptoms are: a pale red, butterfly-like sebaceous adenoma with seizures and mental retardation. Symptoms vary in severity, some have only skin symptoms and others are asymptomatic, some have frequent seizures and severe mental disorders.

an examination

symptom

1. Skin damage, the most common, has diagnostic significance. 80-100% of patients have sebaceous adenoma. It often starts at 4-5 years old and has a significant puberty. It is pink or light brown red papules, which can be faded, and the texture is hard. It is distributed in the shape of a butterfly on both sides of the nose. Occasionally the face is visible in the summary. Twenty percent of patients can be seen in the body of the squid, and sometimes the nails under the nail.

2. Epilepsy: Most cases occur within 2-3 years of age, which can occur before skin damage and intracranial calcification. People with intellectual disabilities have almost all kinds of seizures, and some patients can only have seizures.

3. Mental disorders: 60-70% of patients have varying degrees of mental retardation. The earlier the seizure, the more the degree of mental retardation. A small number of patients can behave in behavior and personality abnormalities.

4. Other performance: about 30-60% of patients may have eye damage, retinal lens tumors are the most characteristic, a few can suddenly insomnia; a few patients with exophthalmos, cataract, retinitis pigmentosa, retinal hemorrhage and primary optic nerve Shrinking and so on. A small number of patients can also be associated with visceral tumors, with kidney tumors being the most common, followed by rhabdomyosarcoma. In addition, it can be accompanied by bone lesions.

an examination

1. Skull X-ray: 50-70% of patients can see intracranial calcification, CT scan shows increased density around the ventricles, and multiple scattered nodular shadows.

2. EEG showed a wave of attack and high amplitude.

Differential diagnosis

Itchy sputum nodules: Nodular pruritus is a variant of localized neurodermatitis, which is characterized by a clinically itchy sputum.

Acne nodules: Acne nodules refer to hard cockroaches with large soybeans or mung beans in the thin and tender areas of the skin when acne is severe. Acne is an inflammation of the skin caused by aphids in the epidermis of the human body. It is an infectious parasitic disease that can occur in any part of the human body. Gray-white nodules: nodules refer to small rounded protrusions on the surface or internal tissues of organisms. Gray-white nodules mean that these small protrusions are grayish white.

Yellow nodules: Nodules refer to small rounded protrusions on the surface or internal tissues of living organisms. Yellow nodules mean that these small protrusions are yellow.

Erythema nodules: erytheman erythema (EN) is a reactive inflammatory disease involving the dermal and lipid-membrane tissues. The anterior skin of the calf is red or purple-red nodular changes.

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