Recognition of tuberous sclerosis in adult women: Delayed presentation with life-threatening consequences

Annals of Internal Medicine

Volumn 154, Issue 12, 2011, Pages 806-813

  Seibert, Diane ^a   Hong, Chien Hui ^b   Takeuchi, Fumiko ^c   Olsen, Cara ^a   Hathaway, Olonda ^d   Moss, Joel ^d   Darling, Thomas N ^a  

^a Uniformed Services University of the Health Sciences and the Walter Reed National Military Medical Center   (United States)

^b KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^c National Institutes of Health ^*  (Japan)

^d NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

And blood institute; Intramural research program; Lung; National heart; National institutes of health

Indexed keywords

ABDOMEN; ADULT; ADULT DISEASE; ANGIOMYOLIPOMA; ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DEATH; DISEASE SEVERITY; DYSPNEA; FEMALE; HEMOPTYSIS; HUMAN; KIDNEY TUMOR; LUNG FUNCTION TEST; LYMPHANGIOLEIOMYOMATOSIS; MAJOR CLINICAL STUDY; MEDICAL HISTORY; NEPHRECTOMY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PNEUMOTHORAX; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEIZURE; THORAX RADIOGRAPHY; TUBEROUS SCLEROSIS; UNITED STATES;

EID: 79959659648     PISSN: 00034819     EISSN: 15393704     Source Type: Journal    
DOI: 10.7326/0003-4819-154-12-201106210-00008     Document Type: Article

References (43)

1. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372: 657-668. [PMID: 18722871]
2. Gomez MR. Tuberous sclerosis. 2nd ed. New York: Raven Pr; 1988.
3. O'Callaghan FJ, Osborne JP. Advances in the understanding of tuberous sclerosis. Arch Dis Child. 2000;83:140-142. [PMID: 10906022]
4. Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, et al. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol. 2006;60:528-539. [PMID: 17120248]
5. Vail EA, Rakowski SK, Numis AL, Thiele EA. Role of mutational analysis in diagnosis of tuberous sclerosis complex. Clin Genet. 2009;75:282-5. [PMID: 19250385]
6. Quist SR, Franke I, Sutter C, Bartram CR, Gollnick HP, Leverkus M. Periungual fibroma (Koenen tumors) as isolated sign of tuberous sclerosis complex with tuberous sclerosis complex 1 germline mutation [Letter]. J Am Acad Dermatol. 2010;62:159-61. [PMID: 20082901]
7. Devlin LA, Shepherd CH, Crawford H, Morrison PJ. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland. Dev Med Child Neurol. 2006;48:495-9. [PMID: 16700943]
8. Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics. 2011;127: e117-e25. [PMID: 21173003]
9. Hunt A, Lindenbaum RH. Tuberous sclerosis: a new estimate of prevalence within the Oxford region. J Med Genet. 1984;21:272-7. [PMID: 6492092]
10. Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989;26:28-31. [PMID: 2918523]
11. Shepherd CW, Beard CM, Gomez MR, Kurland LT, Whisnant JP. Tuberous sclerosis complex in Olmsted County, Minnesota, 1950-1989. Arch Neu-rol. 1991;48:400-1. [PMID: 2012513]
12. Webb DW, Fryer AE, Osborne JP. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol. 1996;38:146-55. [PMID: 8603782]
13. O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis [Letter]. Lancet. 1998;351: 1490. [PMID: 9605811]
14. Neumann HP, Schwarzkopf G, Henske EP. Renal angiomyolipomas, cysts, and cancer in tuberous sclerosis complex. Semin Pediatr Neurol. 1998;5:269-75. [PMID: 9874854]
15. Hancock E, Tomkins S, Sampson J, Osborne J. Lymphangioleiomyomatosis and tuberous sclerosis. Respir Med. 2002;96:7-13. [PMID: 11863212]
16. Costello LC, Hartman TE, Ryu JH. High frequency of pulmonary lymp-hangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc. 2000;75:591-4. [PMID: 10852420]
17. Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, et al. Mutational and radiographic analysis of pulmonary disease consistent with lym-phangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med. 2001;164:661-8. [PMID: 11520734]
18. Moss J, Avila NA, Barnes PM, Litzenberger RA, Bechtle J, Brooks PG, et al. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med. 2001; 164:669-71. [PMID: 11520735]
19. Muzykewicz DA, Sharma A, Muse V, Numis AL, Rajagopal J, Thiele EA. TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex [Letter]. J Med Genet. 2009;46:465-8. [PMID: 19419980]
20. O'Callaghan FJ, Noakes MJ, Martyn CN, Osborne JP. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int. 2004;94:853-7. [PMID: 15476522]
21. Lendvay TS, Marshall FF. The tuberous sclerosis complex and its highly variable manifestations. J Urol. 2003;169:1635-42. [PMID: 12686801]
22. Seyam RM, Bissada NK, Kattan SA, Mokhtar AA, Aslam M, Fahmy WE, et al. Changing trends in presentation, diagnosis and management of renal an-giomyolipoma: comparison of sporadic and tuberous sclerosis complex-associated forms. Urology. 2008;72:1077-82. [PMID: 18805573]
23. Shepherd CW, Gomez MR, Lie JT, Crowson CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc. 1991;66:792-6. [PMID: 1861550]
24. Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 1999;14:401-7. [PMID: 10385849]
25. Ewalt DH, Diamond N, Rees C, Sparagana SP, Delgado M, Batchelor L, et al. Long-term outcome of transcatheter embolization of renal angiomyolipo-mas due to tuberous sclerosis complex. J Urol. 2005;174:1764-6. [PMID: 16217279]
26. Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphan-gioleiomyomatosis. N Engl J Med. 2008;358:140-51. [PMID: 18184959]
27. McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, et al; the National Institutes of Health Rare Lung Diseases Consortium and the MILES Trial Group. Efficacy and safety of sirolimus in lymphangioleiomyoma-tosis. N Engl J Med. 2011;364:1595-606. [PMID: 21410393]
28. Taveira-DaSilva AM, Hathaway O, Stylianou M, Moss J. Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. Ann Intern Med. 2011;154:797-805.
29. Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010;363:1801-11. [PMID: 21047224]
30. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:624-8. [PMID: 9881533]
31. Moss J, DeCastro R, Patronas NJ, Taveira-DaSilva A. Meningiomas in lymphangioleiomyomatosis. JAMA. 2001;286:1879-81. [PMID: 11597290]
32. Pulsifer MB, Winterkorn EB, Thiele EA. Psychological profile of adults with tuberous sclerosis complex. Epilepsy Behav. 2007;10:402-6. [PMID: 17392032]
33. Chu-Shore CJ, Major P, Camposano S, Muzykewicz D, Thiele EA. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 2010;51: 1236-41. [PMID: 20041940]
34. Au KS, Williams AT, Gambello MJ, Northrup H. Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. J Child Neurol. 2004;19: 699-709. [PMID: 15563017]
35. Kerr LA, Blute ML, Ryu JH, Swensen SJ, Malek RS. Renal angiomyoli-poma in association with pulmonary lymphangioleiomyomatosis: forme fruste of tuberous sclerosis? Urology. 1993;41:440-4. [PMID: 8488612]
36. Siegel JM. Proceedings: tuberous sclerosis (forme fruste) vs. Cowden syndrome. Arch Dermatol. 1974;110:476-7. [PMID: 4451408]
37. Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, et al. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet. 2010;127:573-82. [PMID: 20165957]
38. Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, et al. Association between a high-expressing interferon-gamma allele and a lower fre quency of kidney angiomyolipomas in TSC2 patients. Am J Hum Genet. 2002; 71:750-8. [PMID: 12192641]
39. Camposano SE, Greenberg E, Kwiatkowski DJ, Thiele EA. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet. 2009;73:141-6. [PMID: 19133941]
40. Sparling JD, Hong CH, Brahim JS, Moss J, Darling TN. Oral findings in 58 adults with tuberous sclerosis complex. J Am Acad Dermatol. 2007;56:786-90. [PMID: 17239986]
41. Aldrich CS, Hong CH, Groves L, Olsen C, Moss J, Darling TN. Acral lesions in tuberous sclerosis complex: insights into pathogenesis. J Am Acad Der-matol. 2010;63:244-51. [PMID: 20462663]
42. Avila NA, Dwyer AJ, Rabel A, Darling T, Hong CH, Moss J. CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 2010;254:851-7. [PMID: 20177097]
43. Johnson SR. The ERS guidelines for LAM: trying a rationale approach to a rare disease. Respir Med. 2010;104 Suppl 1:S33-41. [PMID: 20451364]