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12 Cards in this Set
- Front
- Back
Clinical Tuberous Sclerosis
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Synonym
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Bourneville's syndrome; epiloia
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Inheritance
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Autosomal dominant; TSC1 gene on 9q34, TSC2 gene on l6p13
Up to 66% may be spontaneous mutations |
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Preanatal
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Fetal echocardiogram revealing rhabdomyoma
DNA analysis if mutation known |
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Incidence
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1:10,000; M=F; all races
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Age at Presentation
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Birth
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Pathogenesis
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Mutations in either TSC1 encoding hamartin or TSC2 encoding tuberin lead to tumor suppression and interact to regulate GTPase activity of rap I GAP family genes.
TSC2 (tuberin) with renal cysts may be associated with deletion in contiguous polycystic kidney gene (PKD 1) |
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Clinical
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Skin
Hypopigmented macules: ash leaf earliest finding, most characteristic; polygonal most common; confetti pretibial Shagreen patch connective tissue nevus; Facial angiofibromas "adenoma sebaceum" Periungual fibromas Fibrous plaque of face CafE au lait macule Central Nervous System Infantile spasms, tonic clonic seizures, hypsarrhythmia, mental retardation, cortical tumors, paraventricular calcification, subependymal nodules with or without obstructive hydrocephalus, astrocytomas Eyes Retinal hamartomas (phakomas) Kidney Angiomyolipoma, cysts Cardiac Rhabdomyoma Oral Enamel pits, gingival fibromas Musculoskeletal Phalangeal cysts, periosteal thickening Lungs Lymphangiomyomatosis |
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D/Dx
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Nevus depigmentosus Nevus anernicus Vitiligo Idiopathic guttate hypornelanosis Hypornelanosis of Ito
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Lab
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Wood's light examination, transfontanelle ultrasound, CT scan/MRI of brain, electroencephalogram (EEG), funcloscopic examination, renal ultrasound, echocardiogram in infancy
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Managemeent
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Complete physical examination with routine follow up by primary care physician Referral to neurosurgeon/neurologist neurosurgicaI removal of brain tumors, anti convulsant medications, shunting of obstructive hydrocephalus Referral to laser specialiSt C02 or copper vapor laser excision of facial angiofibromas Referral to ophthalmologist Referral to other specialists if symptomatic Careful cutaneous and general examination of first degree relatives
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Prognosis
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Premature death may occur secondary to cardiovascular complications early on with brain, renal, pulmonary and seizure morbidity contributing to mortality later in life
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