Tuberous sclerosis symptoms

  The clinical manifestations are complex and varied depending on the location of the lesion, but seizures, facial sebaceous adenoma and mental retardation are the most common, while some patients may have only one of the three symptoms, and some may be completely asymptomatic and found during pathological examination.  Skin symptoms Skin damage is the most common and is often the main diagnostic basis. 90% of patients have sebaceous adenomas, usually found at the age of 2-5 years, on the cheeks and jaws, forehead, eyelids, and nose. It can appear on the trunk and upper and lower extremities, and is more obvious under ultraviolet light. 20% of patients have green granular skin spots, mostly on the waist and lower back, which are thickened and rough, slightly higher than the skin, grayish-brown, from a few millimeters to 5-6 cm in diameter. They occur in adolescence and grow out from the nail groove, sometimes they are the only skin damage of the disease, in addition, milk coffee pigmentation and dermatofibroma can be seen.  Seizures can occur in the early stage of the disease, a few years before skin damage or intracranial calcification, epilepsy can be manifested in any form of seizures, initially may be manifested as infantile spasms, later transformed into generalized seizures or partial seizures, some patients may only have seizures without other clinical manifestations, 60% to 70% of patients have different degrees of mental retardation. In some patients, only seizures may occur without other clinical manifestations. 60% to 70% of patients have different degrees of mental retardation, often appearing at the age of 2 to 3 years, or even earlier. A few patients have hydrocephalus and intracranial hypertension due to subventricular nodules blocking the cerebrospinal fluid circulation pathway.  Retinal crystal tumor is also one of the characteristic manifestations of this disease, usually located in the posterior pole of the eye, yellowish white or grayish yellow with slight flash, round or oval, slightly elevated and irregular surface, cogwheel-shaped edge, half to twice the size of the optic disc, and tends to increase with age. Other ocular manifestations include microphthalmia, proptosis, glaucoma, clouding of the lens, cataract, vitreous hemorrhage, retinitis pigmentosa, retinal hemorrhage and primary optic nerve atrophy, in addition to optic disc edema and secondary optic nerve atrophy due to increased intracranial pressure.