Tuberous sclerosis: a genetic study.

Bundey, Sarah; Evans, Kathleen

doi:10.1136/jnnp.32.6.591

Cited by 96 publications

(36 citation statements)

References 16 publications

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“…Epilepsy The majority (62-97%) of individuals with TS suffer from epilepsy at some point in their lives. [11][12]14,17,18,28,40,[48][49][50][51] The management of epilepsy is similar to that of individuals without TS but a gap in care was identified during the transition from paediatric to adult care. Renal Renal involvement occurs in approximately 60% of patients with TS.…”

Section: Perform a Renal And Liver Ultrasound (B)mentioning

confidence: 94%

“…Studies indicate that 3-19% of affected individuals have ungual fibromas, 11,14,17,27 42-87% have angiofibromas 11,14,17,18,27,28,[48][49] and more than 64% have depigmented maculae. 11,14,17,18,27,28,48 Reports of individuals having shagreen patches vary from 18-75%. 11,14,17,18,26 The incidence of forehead plaques has been reported as 25%.…”

Section: Perform a Renal And Liver Ultrasound (B)mentioning

confidence: 99%

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Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

et al. 1998

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In Scotland a national audit project has been undertaken to devise evidencebased guidelines for the clinical management of patients with tuberous sclerosis (TS), a dominantly inherited multisystem disorder. In order to facilitate the audit and use of these guidelines a 'Care Pathway' was devised to form the patient records. We describe the process of guideline development for TS and our TS Care Pathway.

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Section: Perform a Renal And Liver Ultrasound (B)mentioning

confidence: 94%

Section: Perform a Renal And Liver Ultrasound (B)mentioning

confidence: 99%

Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

et al. 1998

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“…Occurrence of each cutaneous manifestation in our series, was compared with the findings of international data 6,11 . Ash leaf macule, shagreen patch and fibrous plaque of the forehead in our study were seen in equal proportions to that described elsewhere.…”

Section: Discussionmentioning

confidence: 99%

Do cutaneous manifestations predict systemic manifestations of Tuberous sclerosis complex? - A study of 50 patients

Galahitiyawa

Wanigasingha

Galahitiyawa

et al. 2015

Sri Lanka J Child Health

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neurological complication was epilepsy (91%). Statistically significant associations were found between a) fibrous plaque of forehead with ipsilateral structural cerebral lesions or contralateral seizures (p<0.01) and b) shagreen patches (p<0.001) and angiofibromas of the face (p<0.001) with renal manifestations. Shagreen patch was associated with ipsilateral renal involvement. Conclusions:Fibrous plaque of forehead may be considered a cutaneous marker of ipsilateral central nervous system manifestations, Angiofibromas of the face and shagreen patches may be considered as markers of renal involvement.

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“…Manifestations of tuberous sclerosis can become obvious at any age, but most patients have clinical symptoms before they are aged 10 years. The classic triad of the disease occurs in less than one half of patients, probably in one-third [3] , thus requiring a high index of suspicion to diagnose.…”

Section: Introductionmentioning

confidence: 99%

Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report and review of literature

Ogunrin

2010

Ann Afr Med

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Tuberous sclerosis is a rare neuro-cutaneous syndrome, one of the phakomatosis, characterized by facial angiofibromas (adenoma sebaceum), mental retardation and epilepsy. This classic triad occurs in less than one half of patients, probably in one-third, thus requiring a high index of suspicion to diagnose. Consequently it may easily be misdiagnosed as neurofibromatosis or other medical conditions. This is a case report of tuberous sclerosis in a 13-year-old Nigerian girl that was misdiagnosed as neurofibromatosis because of her cutaneous lesions. This paper discussed the case and reviewed the literature. A comprehensive medical clerkship, thorough physical examination, high index of clinical suspicion and neuroimaging investigations are required to confirm diagnosis.

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Tuberous sclerosis: a genetic study.

Cited by 96 publications

References 16 publications

Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

Do cutaneous manifestations predict systemic manifestations of Tuberous sclerosis complex? - A study of 50 patients

Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report and review of literature

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