tuberous sclerosis

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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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

tu·ber·ous scle·ro·sis

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

tuberous sclerosis

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

Tuberous sclerosis

A genetic disease that causes skin problems, seizures, and mental retardation. It may be confused with autism.
Mentioned in: Autism
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.


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.
Medical Eponyms © Farlex 2012

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.
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
An Extremely Rare Cause of Wolff-Parkinson-White Syndrome: Rhabdomyoma in Association With Tuberous Sclerosis. Erciyes Med J 2019; 41(1): 108-10.
Besides, it is uncommon to find these two pathologies together (DF and tuberous sclerosis).
Logrip et al., "Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions," American Journal of Human Genetics, vol.
Occult renal cell carcinoma of eosinophilic morphology detected within renal angiomyolipoma mass in a patient with tuberous sclerosis complex.
The facial findings over the malar area were angiofibromas (adenoma sebaceum) in a typical butterfly pattern (Figure 1), periungual fibroma (Koenen's tumor) on the left big toe (Figure 2) and hypomelanocytic macules around the neck (ash leaf spot) which is typical of tuberous sclerosis.4
Tuberous sclerosis complex diagnostic criteria update: Recommendations from the 2012 International Tuberous Sclerosis Complex Consensus Conference.
Keywords: Pregnancy, Tuberous sclerosis complex, Tuberous sclerosis.
Neurological and neuropsychiatric aspects of tuberous sclerosis complex.
Children with tuberous sclerosis (TSC) often have sleep problems [15, 16].
Tuberous sclerosis complex (TSC) is a neurocutaneous condition which has an autosomal dominant pattern of inheritance.