Mesenchymal Hamartomas of the Kidney

Perou, Maurice; Gray, Peter T.

doi:10.1016/s0022-5347(17)65698-2

Cited by 66 publications

(11 citation statements)

References 23 publications

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“…Only 2 patients had cysts. Eighteen patients had adenomas of the thyroid gland, and all patients who underwent needle biopsies were diagnosed with an adenomatous goiter, although papillary adenomas are known to be the most common thyroid lesions in TSC patients [66].…”

Section: Resultsmentioning

confidence: 99%

Trends in the Prevalence of Tuberous Sclerosis Complex Manifestations: An Epidemiological Study of 166 Japanese Patients

et al. 2013

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multi-system involvement and variable manifestations. There has been significant progress in TSC research and the development of technologies used to diagnose this disorder. As a result, individuals with mild TSC are now being diagnosed, including many older adults who have not developed seizures or cognitive abnormalities. We conducted a statistical analysis of the frequency of TSC manifestations in a population of Japanese adults and children, comparing our findings with historical data. The chi-square test was used to examine the frequency of each manifestation by age. A total of 166 outpatients at the Department of Dermatology of Osaka University Hospital during the period from January 2001 to March 2011 were included in the study. Compared to previous reports, the frequency of neurologic manifestations (excepting autism) was lower in this cohort, and the frequency of skin manifestations (excepting hypomelanotic macules) was higher in this cohort. The frequencies of pulmonary lymphangioleiomyomatosis and renal manifestations were not significantly different from those previously reported. Regarding the association of each manifestation with age, the frequency of neurologic manifestations (excepting subependymal giant cell astrocytoma) was significantly higher in younger patients than in older patients. The frequency of skin manifestations and renal angiomyolipoma were significantly higher in older patients than in younger patients. Because of their high frequency and visibility, skin manifestations are useful in the diagnosis of TSC. Moreover, uterine perivascular epithelioid cell tumor was also characterized as a new findings associated with TSC.

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Section: Resultsmentioning

confidence: 99%

Trends in the Prevalence of Tuberous Sclerosis Complex Manifestations: An Epidemiological Study of 166 Japanese Patients

et al. 2013

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“…Morethan half of all cases are asymptomatic, whereas the others have only fine clinical manifestations such as epigastric or right upper quadrant pain or discomfort (14). Hepatic involvement in tuberous sclerosis has been described in the radiographic and pathologic literature (15,16). Based on the CT findings, multiple liver cysts were suspected at first in the present case.…”

Section: Discussionmentioning

confidence: 70%

Tuberous Sclerosis Associated with Multiple Hepatic Lipomatous Tumors and Hemorrhagic Renal Angiomyolipoma.

et al. 1999

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Wereport a case of tuberous sclerosis associated with hepatic lipomatous tumors and renal angiomyolipomas. Abdominal ultrasonography revealed a high echoic large tumor in the left kidney. A provisional diagnosis of angiomyolipomas of the kidney was made based on computed tomography. Subsequent laparotomy revealed that the extracted tumor was renal angiomyolipoma.It was also revealed that there was an association with hepatic lipomatous tumors thought to be lipomas or angiomyolipomas by liver biopsy. Nearly half of all cases of angiomyolipoma in the kidney are reported as occasional association with tuberous sclerosis complex, but lipomatous tumors in the liver are rare. (Internal Medicine 38: 345-348, 1999)

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“…67 According to early reports, adrenal angiomyolipoma can be present in a quarter of TSC patients, but rarely, if ever, causes hemorrhage. 68–70 Thyroid papillary adenoma have been reported in TSC patients, 71,72 but did not cause thyroid dysfunction. There are rare case reports of other angiomyolipoma or fibroadenoma in the pituitary gland, pancreas, or gonads.…”

Section: Clinical Diagnostic Criteriamentioning

confidence: 99%

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Northrup

Krueger²

2013

Pediatric Neurology

1,261

1,205

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BACKGROUND Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in 1998. METHODS The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important diagnostic implications and was charged with reviewing prevalence and specificity of disease-associated clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis complex. RESULTS Clinical features of tuberous sclerosis complex continue to be a principal means of diagnosis. Key changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific criterion were made for additional clarification and simplification. CONCLUSIONS The 2012 International Tuberous Sclerosis Complex Diagnostic Criteria provide current, updated means using best available evidence to establish diagnosis of tuberous sclerosis complex in affected individuals.

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Mesenchymal Hamartomas of the Kidney

Cited by 66 publications

References 23 publications

Trends in the Prevalence of Tuberous Sclerosis Complex Manifestations: An Epidemiological Study of 166 Japanese Patients

Trends in the Prevalence of Tuberous Sclerosis Complex Manifestations: An Epidemiological Study of 166 Japanese Patients

Tuberous Sclerosis Associated with Multiple Hepatic Lipomatous Tumors and Hemorrhagic Renal Angiomyolipoma.

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

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