Dermatologic lesions

Disorders information

There are dermatologic lesions that assist in diagnosis for you clinically. A very prominent one is adenoma sebaceum, which are angiokeratomas. They can have hypopigmented macules, ash-leaf spots, shagreen patches. We saw this picture earlier, with the ash-leaf spot and several hypopigmented macules and there’s the shagreen patch. These can occur quite early in life. Later in life you may see angiofibromas or the adenoma sebaceum develop. Often you need to refer your patients to plastic surgery or dermatology for management of those. They can sometimes bleed and get messy. Periungual fibromas; all TS patients should have ultrasound of everything and ophthalmologic consult. Remember, they can also have retinal hamartomas, cardiac rhabdomyomas. Sometimes we know somebody has TS because they are having a problem in the neonatal nursery. They do a cardiac echo and find a huge intraventricular tumor. That occurs way before seizures. Interestingly, the cardiac tumors tend to regress but subsequently they can develop renal cysts and angiomyolipomas. That’s why it makes sense when I told you that this mutation seems to be in a tumor suppresser gene, they can also have problems in the liver, spleen, lungs. So usually they need extensive workup, if you saw a baby like this. Here is a picture of a retinal hamartoma. As you can see, here’s the disc with the optic cup and the vasculature, but this doesn’t belong. There is a dental enamel pit in an older child.

Neurologic complications are: seizures, such as infantile spasms, mental retardation, autism develops very commonly. Twenty-five to thirty percent of patients with TS seem to evolve into the autistic spectrum disorders. Rarer complication could be hydrocephalus from one of the tumors obstructing the foramen of Monroe. They can rarely turn malignant. So it’s a very complex disease.

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