Tuberous Sclerosis


Article Author:
Edgar Zamora


Article Editor:
Narothama Aeddula


Editors In Chief:
Stephen Leslie
Karim Hamawy


Managing Editors:
Avais Raja
Orawan Chaigasame
Carrie Smith
Abdul Waheed
Khalid Alsayouri
Kyle Blair
Trevor Nezwek
Radia Jamil
Erin Hughes
Patrick Le
Anoosh Zafar Gondal
Saad Nazir
William Gossman
Hassam Zulfiqar
Navid Mahabadi
Hussain Sajjad
Steve Bhimji
Muhammad Hashmi
John Shell
Matthew Varacallo
Heba Mahdy
Ahmad Malik
Sarosh Vaqar
Mark Pellegrini
James Hughes
Beata Beatty
Daniyal Ameen
Altif Muneeb
Beenish Sohail
Nazia Sadiq
Hajira Basit
Phillip Hynes
Komal Shaheen
Sandeep Sekhon


Updated:
3/13/2019 6:54:26 PM

Introduction

Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple systems. It is inherited in an autosomal dominant fashion and is characterized by an increased predisposition to hamartoma formation.[1] It results from mutations in the genes TSC1 and TSC2 and is known for causing neurological disorders including epilepsy and intellectual disability.[2]

TSC is usually diagnosed in childhood or infancy, and the affected individuals may present with developmental delay, skin manifestations, or seizures. However, it may also be diagnosed earlier or later, based on a wide array of clinical manifestations.[3]

Some manifestations may be present prenatally, such as cardiac rhabdomyomas or cortical tubers. While other signs, including osseous, renal or pulmonary lesions are commonly diagnosed in adulthood.[2][3] The presentation of the disease will vary depending on the developmental stage of the individual. While skin lesions are detected in 90% of patients of all ages, hypopigmented macules are usually found in early childhood. Ungual fibromas appear near puberty, and facial angiofibromas are more common in adolescence.[2]

This disease has a highly variable clinical course. Prognosis may be uncertain, and follow-up requires comprehensive evaluation, often in specialized institutions. This disorder may be overwhelming for some patients and family members; thus, orientation and counseling play a vital role.[1][4]

Etiology

Tuberous sclerosis complex arises from mutations in the genes TSC1 (9q34) and TSC2 (16p13.3), encoding hamartin and tuberin, respectively.[1][5] A broad spectrum of mutations has been described in both genes, and while no particular regions seem more liable to mutations, the frequency is consistently higher for TSC2 than TSC1.[2]

Among patients who meet the clinical criteria for tuberous sclerosis, approximately 15% have no identifiable genetic mutations.[6]

Epidemiology

Tuberous sclerosis complex affects approximately 1 in 6000 to 1 in 10,000 live births, with an overall prevalence of 1 in 20,000. Clinical presentation is extremely variable, usually affecting multiple organs and involving all racial groups.[1] In a longitudinal study involving 125 patients, the median age of presentation was 7 months.[7]

History and Physical

As previously discussed, the clinical presentation of TSC is highly variable, and manifestations will continue developing over a patient’s lifetime.[5] It commonly causes disabling neurological deficits like seizures, intellectual disability, and autism spectrum disorders.[1] A case series involving 125 cases, reported that seizures were the most common presentation in early childhood or infancy, followed by cardiac rhabdomyomas.[7]

As clinical manifestations vary, some tissues such as the skin may be more frequently affected than others.[2] Facial angiofibromas present in 75% of patients [3], while some neurological manifestations, such as seizures or intellectual disabilities may present in more than 80% of patients.[2][3]

Various skin manifestations are included in the major criteria for the diagnosis of tuberous sclerosis.[3][8] Hypomelanotic macules are the most common dermatological manifestation. These are present in approximately 90% of patients and manifest as lighter patches of skin. As previously discussed, facial angiofibromas present in 75% of patients, and commonly follow a butterfly or malar distribution [9], while shagreen patches present in areas of thicker skin as a leathery lesion with a pebbly texture.[3]

Renal angiomyolipomas may manifest in 55% to 75% of patients.[6][10] A longitudinal study showed a 75% prevalence of renal angiomyolipomas by the age of 10.5 years.[10] Other studies have shown radiographic evidence of lymphangiomyomatosis in 26% to 39% of female patients with TSC.[11][12]

Cardiac lesions may present in 50% to 70% of patients.[2]

The diagnosis of tuberous sclerosis, discussed below, consists of major and minor clinical criteria.[2] The diagnosis of tuberous sclerosis is often first made during childhood, when several dermatological features may become apparent.[13]

Evaluation

Tuberous sclerosis is mainly diagnosed based on clinical criteria, but it can also be diagnosed with genetic testing. If a patient fulfills the clinical criteria, however, genetic testing is not required [5], although it may provide useful information for other family members. Genetic testing of TSC1 and TSC2 is positive in 75% to 95% of individuals affected with TSC. Currently, there are reliable screening tests for TSC1 and TSC2, which are based on the detection of pathogenic mutations causing inactivation of the TSC1 or TSC2 proteins, leading to the loss inhibition of mTOR.[14][15]

As per the recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference the diagnostic criteria for tuberous sclerosis includes the following major and minor features[5][8]:

Major Features

  • Hypomelanotic macules (more than 2, and at least 5-mm in diameter)
  • Angiofibromas (more than 2) or fibrous cephalic plaque
  • Ungual fibromas (more than 1)
  • Shagreen patch
  • Multiple retinal hamartomas
  • Cortical dysplasias
  • Subependymal nodules
  • Subependymal giant cell astrocytoma
  • Cardiac rhabdomyoma
  • Lymphangioleiomyomatosis
  • Angiomyolipomas (more than 1)

Minor Features

  • Confetti skin lesions
  • Dental enamel Pitts (more than 3)
  • Intraoral fibromas (more than 1)
  • Retinal achromic patch
  • Multiple renal cysts
  • Nonrenal hamartomas

Definitive diagnosis is established in patients with two major features or one major feature with at least 2 minor features, while “possible diagnosis” is recognized in patients with one major feature or at least 2 minor features.[5][8]

Treatment / Management

As previously described, the appropriate diagnosis should be made using either the clinical criteria or genetic testing. As most patients present dermatological features, the physical examination should include careful skin examination with the use of a Wood’s lamp, in addition to the funduscopic examination. Imaging tests will prove useful to identify lesions such as cardiac rhabdomyomas through echocardiography, tubers and subependymal tumors through MRI or CT. Renal angiomyolipomas can be adequately characterized with either ultrasonography, CT, or MRI.[2]

The 2012 TSC consensus recommended that patients undergo lifetime surveillance to monitor for common manifestations.[5] For children with tuberous sclerosis, a 1- or 3-year lifetime surveillance, that includes imaging studies has been suggested.[4][8][9]

As discussed, follow-up for TSC should be comprehensive, and it commonly presents a wide variety of multi-systemic complications. The dermatologic evaluation may aid in early recognition of angiofibromas that may eventually cause cosmetic disfigurations, which may posteriorly require laser therapy or surgical removal.[2]

For renal angiomyolipomas larger than 3.5 cm, arterial embolization is recommended to avoid total nephrectomy and decrease the incidence of renal complications. Despite this effort, however, the incidence of complications, including chronic kidney disease, is similar in TSC patients who undergo partial versus complete nephrectomy.[16][17] For lesions measuring >3 cm, treatment with mTOR inhibitors is considered first-line therapy. For patients presenting with acutely bleeding renal angiomyolipoma, arterial embolization followed by corticosteroids is considered the treatment of choice.[1]

As recommended by the 2012 consensus for tuberous sclerosis, treatment of acutely symptomatic subependymal giant cell astrocytomas (SEGA) is surgical resection.[8] Surgical resection for symptomatic SEGA, however, is associated with a substantial increase in mortality and comorbidities, including hemiparesis, bleeding, infection, and cognitive decline. Asymptomatic SEGA may be treated with either surgical resection or therapy with mTOR inhibitors.[1] The FDA has approved everolimus for TSC patients with symptomatic SEGA not amenable to surgery.[18]

For patients with lymphangiomyomatosis, some sources recommend follow-up with an annual pulmonary function test to monitor for lung function deterioration.[2]

Differential Diagnosis

The differential diagnosis will vary and depend on the clinical manifestations of each case. Some clinical manifestations may raise the suspicion for tuberous sclerosis complex, including prenatal cardiac rhabdomyomas, infantile seizures, hypopigmented skin macules, and autism spectrum disorders.[19]

Prognosis

Each patient will present different manifestations of the disease and will, therefore, follow different clinical courses. Prognosis should be individualized. Each patient should be monitored annually and screened for common complications.[4]

Complications

Tuberous sclerosis affects multiple systems and may manifest in various tissues within a lifetime. Renal manifestations are common in patients with tuberous sclerosis complex. Approximately 55% to 75% of patients will present renal angiomyolipomas. Other common renal lesions include polycystic kidney disease, renal cysts, and renal cell carcinomas (RCC). The latter has a similar lifetime risk as the general population; however, they will present at a younger age.[2]

Renal angiomyolipomas are commonly asymptomatic. However, these lesions have a risk of rupture and bleeding, and some patients may present with hemorrhage, flank pain, hematuria, or with a tender abdominal mass. Surgery is indicated for larger lesions which carry a higher risk of bleeding.[20]

Lymphangiomyomatosis may present in patients with tuberous sclerosis and is characterized by extensive proliferation of smooth muscle cells and cystic changes within the lung parenchyma. Commonly diagnosed during early childhood, presenting as dyspnea or spontaneous pneumothorax.[2]

Central nervous system manifestations are common. Patients with tuberous sclerosis complex may present subependymal nodules, cortical or subcortical tubers, and SEGA.[21]

Subependymal nodules and tubers may manifest in 90% of patients.[21] Several studies have documented an association between the number of tubers with cognitive impairment and seizures.[22][23]

SEGA present in approximately 10% to 15% of patients and usually presents in late childhood. These lesions may cause obstructive hydrocephalus due to their location and size. As previously discussed, surgery for these lesions also carries a substantial risk of mortality and other complications.[24][25]

Seizures are common in tuberous sclerosis and often refractory to medical treatment; for this reason, they may be treated surgically.[3]

Consultations

  • Pediatrics
  • Pediatric Nephrology
  • Neurosurgery
  • Cardiology
  • Ophthalmology

Deterrence and Patient Education

Tuberous sclerosis is a disease that has a highly variable clinical course and has a wide range of possible manifestations. As such, the uncertainty and complexity of this disease may be daunting, particularly for family members.[1][4]

Genetic counseling is useful for patients and parents of children with tuberous sclerosis complex. Those parents affected should be advised that the risk of having an affected child is approximately 50%.[2] For parents who are not affected by the disease, the risk of having another child with TSC is around 1% to 2%. Parents may also be tested as they may present the disease after their children (parents may present mosaicism).[26]

Enhancing Healthcare Team Outcomes

Primary care providers, particularly community and acute pediatricians providing annual examinations for patients with tuberous sclerosis should focus on the common manifestations and complications of tuberous sclerosis and know which questions should be asked on each visit. Physical examination should also be comprehensive, and consultations to other specialties are done when necessary.[1][14]

Several clinics in the United States specialize in the follow-up and care for patients with tuberous sclerosis. Referral of patients to these centers should ensure that they will receive a comprehensive follow-up. When this is not possible, individual specialty referral should be done for different manifestations, such as epilepsy, or lymphangiomyomatosis, among others.[2]


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Tuberous Sclerosis - Questions

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Which renal disorder can patients have in conjunction with tuberous sclerosis?



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A one-year-old is found to have ash leaf spots, confetti lesions, facial angiofibroma, and periungual fibromas. What is the most likely diagnosis?



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A developmentally delayed child with epilepsy has a raised skin lesion with an orange peel consistency on her lower back. In which of the following disorders is this type of skin lesion most likely?



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A 3-year-old presents with complaints of recurrent seizures and intellectual disability since birth. The mother denies any birth injury. Examination reveals numerous facial angiofibromas. The mother claims that her other son also has similar symptoms. What is the most likely diagnosis?



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Children with tuberous sclerosis most often have what type of heart lesion?



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What renal lesion is common in patients with tuberous sclerosis?



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An ash leaf spot is most likely going to be seen in a patient with which condition?



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In a patient with tuberous sclerosis, what type of renal pathology would most likely be observed?



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A 6-year-old boy with an inherited disorder presents with a history of seizures, facial angiofibromas, and intellectual disability. In the past, he had been worked up for hematuria. Which of the following is the most likely diagnosis?



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A child is seen with complaints of recurrent seizures and intellectual disability since birth. The mother denies any birth injury. Examination reveals numerous whitish-pink facial lesions. The mother claims that her other son also has similar symptoms. What is the most likely diagnosis?

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Tuberous sclerosis is inherited in which pattern?



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A patient with tuberous sclerosis is found to have a uniform calcified series of lesions on head CT. What do these lesions most likely represent?



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What percentage of tuberous sclerosis patients suffer from some type of mental difficulty?



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Which of the following lesions is most consistently found on children with tuberous sclerosis?



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A 9 year old male with a history developmental delays and seizures has hypopigmented areas on the trunk and perioral papules. Biopsy of the papules shows angiofibromata. Select the most likely diagnosis.



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A 6-month-old infant has infantile spasms, a hypsarrhythmic EEG pattern, and ash-leaf depigmentation on her back. What is the most likely diagnosis?



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Tuberous sclerosis has several skin findings. Which of them is most common?



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A 3-year-old boy with intellectual disability presents with a new seizure. A skin exam shows an angiokeratoma on his face and a leaf shaped hypochromic nevus on his trunk. What is the most likely diagnosis?



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How is tuberous sclerosis inherited?



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What disease is most commonly associated with angiofibromas of the face?



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Which of the following retinal lesions is most likely to be associated with this tuberous sclerosis?



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What is the most common cause of intracerebral calcifications in patients with tuberous sclerosis?



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What percentage of those with tuberous sclerosis have intellectual disability?



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Which of the following molecular abnormalities is associated with tuberous sclerosis?



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Which of the following is one of the major criterion for the diagnosis of tuberous sclerosis?



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Defects in which chromosomes is associated with tuberous sclerosis?



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Which of the following disease is characterized by development of angiofibromas in the skin and hamartomas in the brain?



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Which of the following findings is not typical of tuberous sclerosis?



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Tuberous sclerosis is transmitted in which pattern?



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Which type of seizure is not commonly seen with tuberous sclerosis?



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Which of the following skin manifestations is not seen with tuberous sclerosis?



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Which of the following is true of Tuberous sclerosis complex (TSC)?



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Which of the following is true of people with mild cases of tuberous sclerosis complex (TSC)?



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Which of the following is not a diagnostic test for tuberous sclerosis complex (TSC)?



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Which of the following is the intention of early intervention in treating tuberous sclerosis complex (TSC)?



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Tuberous sclerosis is a neurocutaneous syndrome associated with all of the following except:



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Which of the following is not characteristic of tuberous sclerosis?



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An infant with hypomelanotic skin patches develops infantile spasms. Select the most likely diagnosis.



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Which of the following patients most likely has tuberous sclerosis?



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Which of the following genes is mutated in tuberous sclerosis?



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Which of the following findings is present at birth in tuberous sclerosis?



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What is the genetic mutation in tuberous sclerosis?



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A 12-year-old patient with seizures, intellectual disability, and shiny red papules of the face develops hypertension. Which of the following should be suspected?



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Which of the following is true about cortical tubers in tuberous sclerosis?



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Which of the following the MOST common finding (of those offered) in Tuberous Sclerosis (TS)?



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Which of the following choices is the LEAST common in Tuberous Sclerosis (TS)?



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Which of the following is NOT an imaging recommendation for Tuberous Sclerosis (TS)?



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An 5 year old developmentally delayed child in foster care presents for evaluation with a history of recurrent seizures and autistic like behaviors. A medical history is not available. Her caretakers are concerned about pale skin lesions on her trunk and extremities and wonder if they are contagious. On examination there are hypomelanotic macules that resemble an ash leaf on her trunk and tiny red nodules over her cheeks and the bridge of her nose. Which of the following procedures will be most helpful in focusing your diagnostic workup?



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A 8 month old female begins to have "weird spells." These are described as arm jerking "as if she is scared" and often occur in clusters. The family notices these episodes more when the patient is falling asleep, but they are unsure if this is because they are watching the patient more closely during these times than throughout the rest of the day. The patient is diagnosed with infantile spasms caused by tuberous sclerosis. Which of the following is true?



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The mother of a 7-year-old male calls on a Friday night regarding her son. He has a history of tuberous sclerosis with intractable seizures. He has been in his usual state of health and at baseline seizure frequency over the past few days. Tonight he appears very sleepy and tired. This started suddenly and has been ongoing since midday. He does not have a fever or otherwise appear ill. However, the mother is worried as she did forget one dose of his seizure medication on Wednesday night. She would like your advice on what to do next.



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An intellectually disabled patient has wart-like excrescenses on the cheeks and "leaf-shaped" macular lesions on the back. What is the most likely diagnosis?



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A 7-year old male is seen in the neurology clinic because of seizures. The mother was told he had a genetic disorder that may someday also affect his heart, lungs, skin, and kidneys. He has had extensive genetic workup which has revealed mutations in the TSC1 and TSC2 genes. What is the most common type of skin lesion in these children?



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Which renal disorder is associated with tuberous sclerosis?



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In patients with tuberous sclerosis, it can be difficult to differentiate low-fat angiomyolipomas from renal cell carcinomas. Which of the following is helpful in making this differentiation?



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Which of the following is the renal disorder that is least commonly associated with tuberous sclerosis?



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Tuberous Sclerosis - References

References

De Waele L,Lagae L,Mekahli D, Tuberous sclerosis complex: the past and the future. Pediatric nephrology (Berlin, Germany). 2015 Oct;     [PubMed]
Crino PB,Nathanson KL,Henske EP, The tuberous sclerosis complex. The New England journal of medicine. 2006 Sep 28;     [PubMed]
Manoukian SB,Kowal DJ, Comprehensive imaging manifestations of tuberous sclerosis. AJR. American journal of roentgenology. 2015 May;     [PubMed]
Ng KH,Ng SM,Parker A, Annual review of children with tuberous sclerosis. Archives of disease in childhood. Education and practice edition. 2015 Jun;     [PubMed]
Dabora SL,Jozwiak S,Franz DN,Roberts PS,Nieto A,Chung J,Choy YS,Reeve MP,Thiele E,Egelhoff JC,Kasprzyk-Obara J,Domanska-Pakiela D,Kwiatkowski DJ, Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. American journal of human genetics. 2001 Jan;     [PubMed]
Northrup H,Krueger DA, Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatric neurology. 2013 Oct;     [PubMed]
Yates JR,Maclean C,Higgins JN,Humphrey A,le Maréchal K,Clifford M,Carcani-Rathwell I,Sampson JR,Bolton PF, The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. Archives of disease in childhood. 2011 Nov;     [PubMed]
Krueger DA,Northrup H, Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric neurology. 2013 Oct;     [PubMed]
Jóźwiak S,Schwartz RA,Janniger CK,Michałowicz R,Chmielik J, Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. International journal of dermatology. 1998 Dec;     [PubMed]
Ewalt DH,Sheffield E,Sparagana SP,Delgado MR,Roach ES, Renal lesion growth in children with tuberous sclerosis complex. The Journal of urology. 1998 Jul;     [PubMed]
Franz DN,Brody A,Meyer C,Leonard J,Chuck G,Dabora S,Sethuraman G,Colby TV,Kwiatkowski DJ,McCormack FX, Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. American journal of respiratory and critical care medicine. 2001 Aug 15;     [PubMed]
Costello LC,Hartman TE,Ryu JH, High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clinic proceedings. 2000 Jun;     [PubMed]
Staley BA,Vail EA,Thiele EA, Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics. 2011 Jan;     [PubMed]
Hoogeveen-Westerveld M,Ekong R,Povey S,Mayer K,Lannoy N,Elmslie F,Bebin M,Dies K,Thompson C,Sparagana SP,Davies P,van Eeghen AM,Thiele EA,van den Ouweland A,Halley D,Nellist M, Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Human mutation. 2013 Jan;     [PubMed]
Caban C,Khan N,Hasbani DM,Crino PB, Genetics of tuberous sclerosis complex: implications for clinical practice. The application of clinical genetics. 2017;     [PubMed]
Curatolo P,Bombardieri R,Jozwiak S, Tuberous sclerosis. Lancet (London, England). 2008 Aug 23;     [PubMed]
Sooriakumaran P,Gibbs P,Coughlin G,Attard V,Elmslie F,Kingswood C,Taylor J,Corbishley C,Patel U,Anderson C, Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU international. 2010 Jan;     [PubMed]
Jóźwiak S,Nabbout R,Curatolo P, Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2013 Jul;     [PubMed]
DiMario FJ Jr,Sahin M,Ebrahimi-Fakhari D, Tuberous sclerosis complex. Pediatric clinics of North America. 2015 Jun;     [PubMed]
Yamakado K,Tanaka N,Nakagawa T,Kobayashi S,Yanagawa M,Takeda K, Renal angiomyolipoma: relationships between tumor size, aneurysm formation, and rupture. Radiology. 2002 Oct;     [PubMed]
Altman NR,Purser RK,Post MJ, Tuberous sclerosis: characteristics at CT and MR imaging. Radiology. 1988 May;     [PubMed]
Kassiri J,Snyder TJ,Bhargava R,Wheatley BM,Sinclair DB, Cortical tubers, cognition, and epilepsy in tuberous sclerosis. Pediatric neurology. 2011 May;     [PubMed]
Goodman M,Lamm SH,Engel A,Shepherd CW,Houser OW,Gomez MR, Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. Journal of child neurology. 1997 Feb;     [PubMed]
Goh S,Butler W,Thiele EA, Subependymal giant cell tumors in tuberous sclerosis complex. Neurology. 2004 Oct 26;     [PubMed]
Clarke MJ,Foy AB,Wetjen N,Raffel C, Imaging characteristics and growth of subependymal giant cell astrocytomas. Neurosurgical focus. 2006 Jan 15;     [PubMed]
Verhoef S,Bakker L,Tempelaars AM,Hesseling-Janssen AL,Mazurczak T,Jozwiak S,Fois A,Bartalini G,Zonnenberg BA,van Essen AJ,Lindhout D,Halley DJ,van den Ouweland AM, High rate of mosaicism in tuberous sclerosis complex. American journal of human genetics. 1999 Jun;     [PubMed]

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