Tuberous Sclerosis can affect shagreen spots of the skin, if present, likely on the back and kidney tumors |
FACIAL ANGIOFIBROMAS OR ADENOMA SEBACEUM |
This disease is an autosomal dominant disease and called Tuberous Sclerosis. The reason for it appealing is hiding in a genetically programmed hyperplasia of ectodermal and mesodermal cells and manifested by a variety of lesions in the skin, CNS (hamartomas), heart, kidney, and other organs. The principal early manifestations are the triad of seizures, mental retardation, and congenital white spots (macules). Facial angiofibromata are pathognomonic but do not appear until the third or fourth year.
Causes of Tuberous Sclerosis
Genetic alterations of ectodermal and mesodermal cells with hyperplasia, with a disturbance in embryonic cellular differentiation.
Symptoms of Tuberous Sclerosis
Ash leaf spots of skin, and less often, cafe-au-lait spots
Shagreen spots of the skin, if present, likely on the back
Red, highly vascular lumps on the face (adenoma sebaceum)
Mental retardation
Seizures
Rough growths under or around fingernails and toenails
Pitted dental enamel
Kidney tumors
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