tuberous sclerosis

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Related to Bourneville disease: Tuberous Sclerosis Complex

sclerosis

 [sklĕ-ro´sis]
an induration or hardening, especially of a part from inflammation, or in disease of the interstitial substance. The term is used chiefly for such a hardening of the nervous system due to hyperplasia of the connective tissue or for hardening of the blood vessels. Called also induration. adj., adj sclerot´ic.
amyotrophic lateral sclerosis see amyotrophic lateral sclerosis.
arteriolar sclerosis arteriolosclerosis.
disseminated sclerosis multiple sclerosis.
familial centrolobar sclerosis a progressive familial form of leukoencephalopathy marked by nystagmus, ataxia, tremor, parkinsonian facies, dysarthria, and mental deterioration.
focal glomerular sclerosis focal segmental glomerulosclerosis.
glomerular sclerosis glomerulosclerosis.
hippocampal sclerosis loss of neurons in the region of the hippocampus, with gliosis; sometimes seen in epilepsy.
lateral sclerosis a form seated in the lateral columns of the spinal cord. It may be primary, with spastic paraplegia, rigidity of the limbs, and increase of the tendon reflexes but no sensory disturbances, or secondary to myelitis, with paraplegia and sensory disturbance.
medial calcific sclerosis (Mönckeberg's sclerosis) Mönckeberg's arteriosclerosis.
multiple sclerosis see multiple sclerosis.
systemic sclerosis systemic scleroderma.
tuberous sclerosis a congenital heredofamilial disease, transmitted as an autosomal dominant trait, characterized principally by the presence of hamartomas of the brain (tubers), retina (phakomas), and viscera, mental retardation, seizures, and adenoma sebaceum, and often associated with other skin lesions.

tu·ber·ous scle·ro·sis

[MIM*191100]
phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face; the cerebral and retinal lesions are glial nodules; other skin lesions are hypopigmented macules, shagreen patches, and periungual fibromas; autosomal dominant inheritance with variable expression, caused by mutation in either the tuberous sclerosis gene (TSC1) on chromosome 9q or TSC2 on 16p.

tuberous sclerosis

a familial, neurocutaneous disease characterized by epilepsy, mental deterioration, adenoma sebaceum, nodules and sclerotic patches on the cerebral cortex, retinal tumors, depigmented leaf-shaped macules on the skin, tumors of the heart or kidneys, and cerebral calcifications. There is no effective treatment. Also called Bourneville's disease, epiloia. See also adenoma sebaceum.

tuberous sclerosis type 1

An autosomal dominant multi-system disorder (OMIM:191100) characterised by hamartomas and developmental defects, which primarily affects the brain, kidneys, heart and skin.

Clinical findings
Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes.
 
Molecular pathology
Defects of TSC1, which encodes a putative tumour suppressor, cause tuberous sclerosis type 1.

tuberous sclerosis

Internal medicine An AD neurocutaneous syndrome characterized by skin lesions, variable mental retardation and seizures; TS is named after the typical brain lesion–a tuber. See Neurocutaneous disorder.
Tuberous sclerosis –gomez criteria  
Primary  Secondary  
Facial angiofibroma 1º relative with TS
Fibrous plaque on forehead Hypomelanic macules
Ungual fibroma  Shagreen patch
Cortical tuber Infantile spasms
Multiple retinal hamartomas Single retinal hamartoma
Subependymal hamartoma Cardiac rhabdomyoma
Bilateral renal angiomyolipomas or cysts
One required for diagnosisTwo required for diagnosis

tuberous sclerosis

See BOURNEVILLE'S DISEASE.

Tuberous sclerosis

A genetic disease that causes skin problems, seizures, and mental retardation. It may be confused with autism.
Mentioned in: Autism

Bourneville,

Désiré-Magloire, French physician, 1840-1909.
Bourneville disease - phacomatosis characterized by the formation of multisystem hamartomas. Synonym(s): Bourneville syndrome; tuberous sclerosis
Bourneville syndrome - Synonym(s): Bourneville disease
Bourneville-Pringle disease - facial lesions with tuberous sclerosis.

tu·ber·ous scle·ro·sis

(tūbĕr-ŭs skler-ōsis) [MIM*191100]
Phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face.
Synonym(s): Bourneville disease, epiloia.
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