tuberous sclerosis…

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tuberous sclerosis, angiofibromas, face, tuberous sclerosis, hypopigmented macule, adenoma sebaceum, tuberous sclerosis, group of two genetic disorders characterized by problems, the skin, brain/nervous system, kidneys, a predisposition to tumors, named after a characteristic abnormal growth, in the brain, takes the shape of a tuber, root, tuberous sclerosis is inherited, an autosomal dominant trait, one parent must pass on the bad gene, the child to get the disease, a high percentage of cases, due to new mutations, in the sperm, egg of one, the parents, is no family history, one of a group of diseases described, neuro-cutaneous syndromes, extensive involvement of both the skin, central nervous system, brain, spinal cord, symptoms of tuberous sclerosis vary considerably, from minimally affected people, normal intelligence, no seizures to severely affected people, profound retardation, frequent, difficult-to-control seizures, serious tumors, severely affected people, develop seizures shortly after birth, characterized by infantile spasms, hypsarrhythmia, mental retardation becomes evident, infants begin to miss normal developmental milestones, infants, have heart tumors, rhabdomyoma, detected by ultrasound, tumors, grow, shrink, not cause problems, several different skin lesions, common in tuberous sclerosis, "ash leaves", depigmented, hypopigmented, lacking normal skin color, white lesions, the shape, appearance of an ash leaf, appear anywhere on the body, shagreen patches, appear on the lower back, raised patches of skin, an orange-peel texture, adenoma sebaceum, angiofibroma, lesions include red, highly vascular lumps on the face, resemble irritated acne, enlarge, run together, become confluent, to form larger patches, incidence is approximately 1 in 25,000-30,000 births, no known risk factors other than having a parent, tuberous sclerosis, in that case, each child has a 50% chance of inheriting the disease, ash leaf spots of skin, less often, cafe-au-lait spots, shagreen spots, the skin, likely on the back, red, highly vascular lumps on the face, adenoma sebaceum, mental retardation, seizures, rough growths under, around fingernails, toenails, pitted dental enamel, kidney tumors, examination, the eyes, retinal abnormalities, pale patches, mulberry tumor, phakoma, astrocytoma, tumor, some indications of heart abnormalities, abnormal heart rhythm, electorcardiogram, tumor, rhabdomyoma, on ultrasound, an mri, the head demonstrates tumors, benign "tubers", in the brain, a cat scan, the head, reveal calcium deposits, in the brain, mouth, rubbery growths in tongue, gingiva, ultrasound of kidney, cysts, fatty benign tumors, serious tumors, ultraviolet light examination, the skin, ash leaf spots not visible in ordinary light, a family history, genetic testing, either of two genes, cause this disease, tsc1, no specific treatment, tuberous sclerosis, treatment is tailored, medications, controlling seizures, difficult, special schooling, care is determined by the severity of mental retardation, adenoma sebaceum, small growths, on the face removed by laser treatment, lesions tend to recur, repeat treatments, heart tumors, rhabdomyomas commonly disappear after puberty so surgery, not necessary, regular ultrasound of kidneys is important screening, adults to make that sure tumors, not grow, contact the tuberous sclerosis alliance at 800-225-6872, children, mild tuberous sclerosis, a severely affected child, born, parents, examined, one of them is found to have had a mild case of tuberous sclerosis that escaped detection, children, profound retardation, uncontrollable seizures, poorly, numerous benign tumors occur in this disease, renal, brain tumors, become malignant, severe mental retardation, brain tumors, astrocytoma, uncontrollable seizures, rhabdomyoma, the heart, either side, the family has a history of tuberous sclerosis, tuberous sclerosis also appears, a spontaneous mutation, symptoms suggestive of tuberous sclerosis in child, call a geneticist, child is diagnosed, cardiac rhabdomyoma, tuberous sclerosis, leading cause of this tumor, genetic counseling, prospective parents, a family history of tuberous sclerosis, prenatal diagnosis available, families, a known dna mutation, tuberous sclerosis frequently appears, a new mutation, not preventable.