Timeline of tuberous sclerosis
The history of tuberous sclerosis (TSC) research spans less than 200 years.
The history of TSC research is commonly divided into four periods.
19th century
- 1835
- French dermatologist Pierre François Olive Rayer published an atlas of skin diseases. It contains 22 large coloured plates with 400 figures presented in a systematic order. On page 20, fig. 1 is a drawing that is regarded as the earliest description of tuberous sclerosis.[5] Entitled "végétations vasculaires", Rayer noted these were "small vascular, of papulous appearance, widespread growths distributed on the nose and around the mouth".[6] No mention was made of any medical condition associated with the skin disorder.
- 1850
- English dermatologists William Gull described, in Guy's Hospital Reports, the case of a four-year-old girl with a "peculiar eruption extending across the nose and slightly affecting both cheeks", which they called "vitiligoidea tuberosa".[7]
- 1862
- German physician cardiac rhabdomyomas and cortical tubers of tuberous sclerosis. He failed to recognise a distinct disease, regarding it as a pathological-anatomical curiosity.[10] Von Recklinghausen's name would instead become associated with neurofibromatosis after a classic paper in 1881.[8]
- 1864
- German pathologist Rudolf Virchow published a three-volume work on tumours that described a child with cerebral tuberous sclerosis and rhabdomyoma of the heart. His description contained the first hint that this may be an inherited disease: the child's sister had died of a cerebral tumour.[11]
- 1880
- French neurologist Jean Martin Charcot at La Salpêtrière.[10] While substituting for his teacher, Louis J.F. Delasiauve,[12] he attended to Marie, a 15-year-old girl with psychomotor retardation, epilepsy and a "confluent vascular-papulous eruption of the nose, the cheeks and forehead". She had a history of seizures since infancy and was taken to the children's hospital aged three and declared a hopeless case. She had learning difficulties and could neither walk nor talk. While under Bourneville's care, Marie had an ever-increasing number of seizures, which came in clusters. She was treated with quinquina, bromide of camphor, amyl nitrite, and the application of leeches behind the ears. On 7 May 1879 Marie died in her hospital bed. The post-mortem examination disclosed hard, dense tubers in the cerebral convolutions, which Bourneville named Sclérose tubéreuse des circonvolutions cérébrales. He concluded they were the source (focus) of her seizures. In addition, whitish hard masses, one "the size of a walnut", were found in both kidneys.[13]
- 1881
- German physician Hartdegen described the case of a two-day-old baby who died in status epilepticus. Post-mortem examination revealed small tumours in the lateral ventricles of the brain and areas of cortical sclerosis, which he called "glioma gangliocellulare cerebri congenitum".[14][15]
- 1881
- Bourneville and Édouard Brissaud examined a four-year-old boy at La Bicêtre. As before, this patient had cortical tubers, epilepsy and learning difficulties. In addition he had a heart murmur and, on post-mortem examination, had tiny hard tumours in the ventricle walls in the brain (subependymal nodules) and small tumours in the kidneys (angiomyolipomas).[16]
- 1885
- French physicians sebaceous glands. The papular rash is now known as facial angiofibroma.[18]
- 1885
- French dermatologists François Henri Hallopeau and Émile Leredde published a case of adenoma sebaceum that was of a hard and fibrous nature. They first described the shagreen plaques and later would note an association between the facial rash and epilepsy.[7][19]
- 1890
- Scottish dermatologist John James Pringle, working in London, described a 25-year-old woman with subnormal intelligence, rough lesions on the arms and legs, and a papular facial rash. Pringle brought attention to five previous reports, two of which were unpublished.[20] Pringle's adenoma sebaceum would become a common eponym for the facial rash.
Early 20th century
- 1901
- Italian physician GB Pellizzi studied the pathology of the cerebral lesions. He noted their dysplastic nature, the cortical
- 1903
- German physician Richard Kothe described periungual fibromas, which were later rediscovered by the Dutch physician Johannes Koenen in 1932 (known as Koenen's tumours).[23]
- 1906
- Australian neurologist Alfred Walter Campbell, working in England, considered the lesions in the brain, skin, heart and kidney to be caused by one disease. He also first described the pathology in the eye. His review of 20 reported cases led him to suggest a diagnostic triad of symptoms that is more commonly attributed to Vogt.[24]
- 1908
- German paediatric neurologist Heinrich Vogt established the diagnostic criteria for TSC, firmly associating the facial rash with the neurological consequences of the cortical tubers.[25][26] Vogt's triad of epilepsy, idiocy, and adenoma sebaceum held for 60 years until research by Manuel Gómez discovered that fewer than a third of patients with TSC had all three symptoms.[5]
- 1910
- J. Kirpicznick was first to recognise that TSC was a genetic condition. He described cases of identical and fraternal twins and also one family with three successive generations affected.[27]
- 1911
- Edward Sherlock,
- 1913
- H. Berg is credited with first stating that TSC was a hereditary disorder, noting its transmission through two or three generations.[30]
- 1914
- P. Schuster described a patient with adenoma sebaceum and epilepsy but of normal intelligence.[7] This reduced phenotypic expression is called a forme fruste.[31]
- 1918
- French physician René Lutembacher published the first report of cystic lung disease in a patient with TSC. The 36-year-old woman died from bilateral renal fibrosarcoma. This complication, which only affects women, is now known as lymphangioleiomyomatosis (LAM).[32][33]
- 1920
- Dutch phakomatoses" (later called neurocutaneous syndromes).[34]
- 1924
- H. Marcus noted that characteristic features of TSC such as intracranial calcifications were visible on x-ray.[35]
Mid-20th century
- 1932
- autistic. However it would be 11 years before Leo Kanner suggested the term "autism". They also noticed the associated white spots on the skin (hypomelanic macules).[36]
- 1934
- N.J. Berkwitz and L.G. Rigler showed it was possible to diagnose tuberous sclerosis using pneumoencephalography to highlight non-calcified subependymal nodules. These resembled "the wax drippings of a burning candle" on the lateral ventricles.[37]
- 1942
- Sylvan E. Moolten proposed "the tuberous sclerosis complex", which is now the preferred name. This recognises the multi-organ nature of the disease. Moolten introduced three words to describe its pathology: "the basic lesion is hamartial, becoming in turn tumor-like (hamartoma) or truly neoplastic (hamartoblastoma)."[38]
- 1954
- Norwegian pathologist Reidar Eker bred a line of
- 1966
- Phanor Perot and Bryce Weir pioneered surgical intervention for epilepsy in TSC. Of the seven patients who underwent cortical tuber resection, two became seizure-free. Prior to this, only four patients had ever been surgically treated for epilepsy in TSC.[40]
- 1967
- J.C. Lagos and Manuel Rodríguez Gómez reviewed 71 TSC cases and found that 38% of patients have normal intelligence.[14][41]
- 1971
- American geneticist "two hit" hypothesis to explain the formation of retinoblastoma in both children and adults. The children had a congenital germline mutation which was combined with an early lifetime somatic mutation to cause a tumour. This model applies to many conditions involving tumour suppressor genes such as TSC.[42] In the 1980s, Knudson's studies on the Eker rat strengthened this hypothesis.[43]
- 1975
- Giuseppe Pampiglione and E. Pugh, in a letter to infantile spasms.[44]
- 1975
- Riemann first used ultrasound to examine TSC-affected kidneys in the case of a 35-year-old woman with chronic renal failure.[45]
Late 20th century
- 1976
- Cranial computed tomography (CT, invented 1972) proved to be an excellent tool for diagnosing cerebral neoplasms in children, including those found in tuberous sclerosis.[46]
- 1977
- Tuberous Sclerosis Association in the UK to provide self help and to fund research.[47]
- 1979
- Manuel Gómez published a monograph: "Tuberous Sclerosis" that remained the standard textbook for three editions over two decades. The book described the full clinical spectrum of TSC for the first time and established a new set of diagnostic criteria to replace the Vogt triad.[14][48]
- 1982
- Kenneth Arndt successfully treated facial angiofibroma with an argon laser.[49]
- 1983
- Positron emission tomography (PET, invented 1981) was compared to electroencephalography (EEG) and CT. It was found to be capable of locating epileptogenic cortical tubers that would otherwise have been missed.[50]
- 1984
- The cluster of infantile spasms in TSC was discovered to be preceded by a focal EEG discharge.[51]
- 1985
- Magnetic resonance imaging (MRI, invented 1980) was first used in TSC to identify affected regions in the brain of a girl with tuberous sclerosis.[52]
- 1987
- MR was judged superior to CT imaging for both sensitivity and specificity. In a study of fifteen patients, it identified subependymal nodules projecting into the lateral ventricles in twelve patients, distortion of the normal cortical architecture in ten patients (corresponding to cortical tubers), dilated ventricles in five patients, and distinguished a known astrocytoma from benign subependymal nodules in one patient.[53]
- 1987
- MR imaging was found to be capable of predicting the clinical severity of the disease (epilepsy and developmental delay). A study of 25 patients found a correlation with the number of cortical tubers identified. In contrast, CT was not a useful predictor, but was superior at identifying calcified lesions.[54]
- 1987
- Linkage analysis on 19 families with TSC located a probable gene on chromosome 9.[55]
- 1988
- Cortical tubers found on MR imaging corresponded exactly to the location of persistent EEG foci, in a study of six children with TSC. In particular, frontal cortical tubers were associated with more intractable seizures.[56]
- 1990
- Vigabatrin was found to be a highly effective antiepileptic treatment for infantile spasms, particularly in children with TSC.[57] Following the discovery in 1997 of severe persistent visual field constriction as a possible side-effect, vigabatrin monotherapy is now largely restricted to this patient group.[58]
- 1992
- Linkage analysis located a second gene to chromosome 16p13.3, close to the polycystic kidney disease type 1 (PKD1) gene.[59]
- 1993
- The European Chromosome 16 Tuberous Sclerosis Consortium announced the cloning of TSC2; its product is called tuberin.[60]
- 1994
- The Eker rat was discovered to be an animal model for tuberous sclerosis; it has a mutation in the rat-equivalent of the TSC2 gene.[61]
- 1995
- MRI with
- 1997
- The TSC1 Consortium announced the cloning of TSC1; its product is called hamartin.[64]
- 1997
- The PKD1 gene, which leads to autosomal dominant polycystic kidney disease (ADPKD), and the TSC2 gene were discovered to be adjacent on chromosome 16p13.3. A team based at the Institute of Medical Genetics in Wales studied 27 unrelated patients with TSC and renal cystic disease. They concluded that serious renal disease in those with TSC is usually due to contiguous gene deletions of TSC2 and PKD1. They also noted that the disease was different (earlier and more severe) than ADPKD and that patients with TSC1 did not suffer significant cystic disease.[65]
- 1997
- Patrick Bolton and Paul Griffiths examined 18 patients with TSC, half of whom had some form of autism. They found a strong association between tubers in the temporal lobes and the patients with autism.[66]
- 1998
- The Tuberous Sclerosis Consensus Conference issued revised diagnostic criteria.[67]
- 1998
- An Italian team used magnetoencephalography (MEG) to study three patients with TSC and partial epilepsy. Combined with MRI, they were able to study the association between tuberous areas of the brain, neuronal malfunctioning and epileptogenic areas.[68] Later studies would confirm that MEG is superior to EEG in identifying the eliptogenic tuber, which may be a candidate for surgical resection.[69]
21st century
- 2001
- A multi-centre cohort of 224 patients were examined for mutations and disease severity. Those with TSC1 were less severely affected than those with TSC2. They had fewer seizures and less mental impairment. Some symptoms of TSC were rare or absent in those with TSC1. A conclusion is that "both germline and somatic mutations appear to be less common in TSC1 than in TSC2".[70]
- 2002
- Several research groups investigated how the TSC1 and TSC2 gene products (tuberin and hamartin) work together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signalling. This important pathway regulates cell proliferation and tumour suppression.[71]
- 2002
- Treatment with models of tuberous sclerosis.
- 2006
- Small trials showed promising results in the use of rapamycin to shrink angiomyolipoma[74] and astrocytomas.[75] Several larger multicentre clinical trials began: lymphangioleiomyomatosis (LAM)[76] and kidney angiomyolipoma (AML)[77] were treated with rapamycin; giant cell astrocytomas were treated with the rapamycin derivative everolimus.[78]
2012
A consensus conference was held and revised guidelines for the diagnosis and management of tuberous sclerosis were published.[79][80]
Notes
- ^ "Tuberous Sclerosis Fact Sheet". NINDS. 11 April 2006. Archived from the original on 21 January 2007. Retrieved 9 January 2007.
- ^ Rott (2005), page 2 - Introduction.
- Who Named It?. Retrieved 30 April 2007.
- ^ Enersen OD. "John James Pringle". Who Named It?. Retrieved 30 April 2007.
- ^ a b c Curatolo (2003), chapter: "Historical Background".
- ^ Rayer PF (1835). Traité des maladies de la peau / atlas (in French). Paris: J.B. Baillière. p. 20. Retrieved 9 December 2006.
- ^ S2CID 72130332.
- ^ a b Enersen OD. "Friedrich Daniel von Recklinghausen". Who Named It?. Retrieved 10 December 2006.
- ^ von Recklinghausen F (1862). "Ein Herz von einem Neugeborene welches mehrere theils nach aussen, theils nach den Höhlen prominirende Tumoren (Myomen) trug". Monatschr Geburtsheilkd (in German). 20: 1–2.(As cited in Curatolo (2003))
- ^ PMID 15090576.
- ^ Virchow R (July 1863). Die Krankhaften Geschwülste. Vol II. Berlin: August Hirschwald. p. 148.(As cited in Acierno (1994))
- ISBN 978-1-879284-49-4.) (contains an abridged translation of Bourneville's 1880 paper)
{{cite book}}
:|last=
has generic name (help)CS1 maint: multiple names: authors list (link - ^ Bourneville D (1880). "Sclérose tubéreuse des circonvolutions cérébrales: Idiotie et épilepsie hemiplégique". Archives de Neurologie (in French). 1: 81–91. Retrieved 22 August 2009.
- ^ ISBN 978-90-902019-3-1.
- S2CID 41145503.
- ^ Bourneville D, Brissaud É (1881). "Encéphalite ou sclérose tubéreuse des circonvolutions cérébrales". Archives de Neurologie. 1: 390–412.(As cited in Curatolo (2003))
- ^ Balzer F, Ménétrier P (1885). "Étude sur un cas d'adénomes sébacés de la face et du cuir". Archives de Physiologie Normale et Pathologique. Third Series. 6: 564–76.(As cited in Curatolo (2003))
- S2CID 19861804.
- ^ Hallopeau F, Leredde É (1885). "Sur un cas d'adenomes sébacés à forme sclereuse". Ann Dermatol Syph. 6: 473–9.(As cited in Curatolo (2003))
- ^ Pringle JJ (1890). "A case of congenital adenoma sebaceum". British Journal of Dermatology. 2: 1–14. Retrieved 22 August 2009.
- ^ Pellizzi GB (1901). "Contributo allo studio dell'idiozia: rivisita sperimentale di freniatria e medicina legale delle alienazioni mentali". Riv Sper Freniat. 27: 265–9.(As cited in Curatolo (2003))
- PMID 1549677.[permanent dead link]
- S2CID 8643541.(As cited in Rott (2005))
- .
- ^ Enersen OD. "Heinrich Vogt". Who Named It?. Retrieved 11 December 2006.
- ^ Vogt H (1908). "Zur Diagnostik der tuberösen Sklerose". Zeitschrift für die Erforschung und Behandlung des Jugendlichen Schwachsinns Auf Wissenschaftlicher Grundlage, Jena. 2: 1–16.(As cited in Curatolo (2003) and fully cited by Who Named It?)
- S2CID 42104267.(As cited in Curatolo (2003))
- ^ Sherlock EB (1911). The Feeble-minded, A Guide to Study and Practice. Macmillan & Co.(As cited in Jay (2004))
- ^ Online Mendelian Inheritance in Man (OMIM): Tuberous Sclerosis - 191100
- S2CID 57800612.(As cited in Curatolo (2003))
- ^ Schuster P (1914). "Beiträge zur Klinik der tuberösen Sklerose des Gehirns". Dtsch Z Nervenheilkd (in German). 50: 96–133.(As cited in Curatolo (2003))
- ^ Lutembacher R (1918). "Dysembryomes métatypique des reins. Carcinose submiliaire aigue du poumon avec emphysème généralisé et double pneumothorax". Annals of Medicine (in French). 5: 435–50.(As cited in Curatolo (2003))
- PMID 15888627.
- ^ Van der Hoeve J (1920). "Eye symptoms in tuberous sclerosis of the brain". Trans Ophthalmol Soc UK. 40: 329–34.(As cited in Curatolo (2003))
- ., as cited in Curatolo (2003) and Gómez (1995))
- .
- ^ Berkwitz NJ, Rigler LG (1934). "Tuberous sclerosis diagnosed with cerebral pneumography". Archives of Neurology and Psychiatry. 35: 833–8.(As cited in Gómez (1995))
- .
- PMID 13206757.(As cited in Yeung (1994))
- S2CID 30129862.)
- PMID 5297238.(As cited in Curatolo (2003))
- PMID 5279523.(As cited in Rott (2005))
- PMID 15579026.
- S2CID 44703965.
- PMID 1223616.(As cited in Rott (2005))
- PMID 180824.
- ISSN 0261-3077. Retrieved 2019-08-14.
- ISBN 978-0-89004-313-4.(As cited in Özgür (2005))
- PMID 7089113.(As cited in Rott (2005))
- S2CID 40010942.(As cited in Rott (2005))
- ^ Dulac O, Lemaitre A, Plouin P (1984). "The Bourneville syndrome: clinical and EEG features of epilepsy in the first year of life". Boll Lega Ital Epil. 45/46: 39–42.(As cited in Curatolo (2003))
- S2CID 73135293.(As cited in Rott (2005))
- S2CID 12709497.
- PMID 3827681.(As cited in Curatolo (2003))
- S2CID 46007790.
- S2CID 53192058.(As cited in Curatolo (2003))
- S2CID 30019639.
- PMID 10858057.
- S2CID 37460974.
- S2CID 29476292.)(As cited in Rott (2005))
{{cite journal}}
: CS1 maint: numeric names: authors list (link - PMID 7972075.
- PMID 7622707.
- PMID 8693996.
- PMID 9242607.
- PMID 9382094.
- S2CID 37260017.
- S2CID 22310240.
- S2CID 38974140.
- S2CID 21158106.
- PMID 11112665.
- PMID 12271141.
- PMID 12384518.
- PMID 11875047.
- PMID 16931204.
- S2CID 20466190. Archived from the originalon 2012-12-17.
- ^ "Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)". ClinicalTrials.gov (NIH). 6 January 2007. Retrieved 10 January 2007.
- ^ "Sirolimus in Treating Patients With Angiomyolipoma of the Kidney". ClinicalTrials.gov (NIH). 21 November 2006. Retrieved 10 January 2007.
- ^ "Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex". ClinicalTrials.gov (NIH). 13 December 2006. Retrieved 10 January 2007.
- PMID 24053983.
- PMID 24053982.
References
- Acierno LJ (1994). The History of Cardiology. Taylor & Francis. p. 427. ISBN 978-1-85070-339-6.
- Curatolo P, ed. (2003). Tuberous Sclerosis Complex : From Basic Science to Clinical Phenotypes. MacKeith Press. ISBN 978-1-898683-39-1.
- Gómez MR (1995). "History of the tuberous sclerosis complex". Brain & Development. 17 Suppl (suppl): 55–7. S2CID 4770497.
- Rott HD, Mayer K, Walther B, Wienecke R (2005). "Zur Geschichte der Tuberösen Sklerose (The History of Tuberous Sclerosis)" (PDF) (in German). Tuberöse Sklerose Deutschland e.V. Archived from the original (PDF) on 15 March 2007. Retrieved 8 January 2007.