Tuberous sclerosis complex: Advances in diagnosis, genetics, and management

Schwartz, Robert A.; Fernández, Geover; Kotulska, Katarzyna; Jóźwiak, Sergiusz

doi:10.1016/j.jaad.2007.05.004

Cited by 339 publications

(331 citation statements)

References 110 publications

(156 reference statements)

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“…Germ-line mutations in TSC1 and TSC2 predispose to TSC (Consortium, 1993;van Slegtenhorst et al, 1997), which is characterized by the development of widespread hamartomas in several organs including brain (cortical tubers and subependymal glial nodules), kidneys (angiomyolipomas, AML), skin ((angio) fibromas), heart (rhabdomyomas) and lungs (lymphangioleiomyomatosis (LAM)) ( Table 1). In addition, these patients develop early onset brain cancer (subependymal giant cell astrocytomas (SEGAs)) and different types of renal cancer (Table 1) (Schwartz et al, 2007;Curatolo et al, 2008;Ess, 2010). Notably, LAM also occurs sporadically, owing to somatic mutations in the TSC genes, and is associated with renal AML in B50% of these cases (Carsillo et al, 2000).…”

Section: Nf1mentioning

confidence: 99%

The long and winding road to rational treatment of cancer associated with LKB1/AMPK/TSC/mTORC1 signaling

et al. 2011

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The liver kinase B1 (LKB1)/adenosine mono-phosphateactivated protein kinase (AMPK)/tuberous sclerosis complex (TSC)/mammalian target of rapamycin (mTOR) complex (mTORC1) cassette constitutes a canonical signaling pathway that integrates information on the metabolic and nutrient status and translates this into regulation of cell growth. Alterations in this pathway are associated with a wide variety of cancers and hereditary hamartoma syndromes, diseases in which hyperactivation of mTORC1 has been described. Specific mTORC1 inhibitors have been developed for clinical use, and these drugs have been anticipated to provide efficient treatment for these diseases. In the present review, we provide an overview of the metabolic LKB1/AMPK/TSC/mTORC1 pathway, describe how its aberrant signaling associates with cancer development, and indicate the difficulties encountered when biochemical data are extrapolated to provide avenues for rational treatment of disease when targeting this signaling pathway. A careful examination of preclinical and clinical studies performed with rapamycin or derivatives thereof shows that although results are encouraging, we are only half way in the long and winding road to design rationale treatment targeted at the LKB1/ AMPK/TSC/mTORC1 pathway. Inherited cancer syndromes associated with this pathway such as the PeutzJeghers syndrome and TSC, provide perfect models to study the relationship between genetics and disease phenotype, and to delineate the complexities that underlie translation of biochemical and genetical information to clinical management, and thus provide important clues for devising novel rational medicine for cancerous diseases in general.

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Section: Nf1mentioning

confidence: 99%

The long and winding road to rational treatment of cancer associated with LKB1/AMPK/TSC/mTORC1 signaling

et al. 2011

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“…Characteristic cutaneous manifestations of tuberous sclerosis include facial angiofibromas. 108 Facial angiofibromas are seen in 70% to 80% of patients. They may be disfiguring, and do not resolve without treatment.…”

Section: Hemangioendotheliomas Key Point D Antiangiogenic Treatment Hmentioning

confidence: 99%

Angiogenesis in cutaneous disease: Part II

Laquer

Hoang

Nguyen

et al. 2009

Journal of the American Academy of Dermatology

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This review will discuss the role of angiogenesis in specific cutaneous diseases. Scientific evidence now points to the role of angiogenesis in tumor development and many other cutaneous disorders. Angiogenesis is a complex process that involves angiogenic growth factors and inhibitors, many of which could be a potential target for pharmacologic intervention. Antiangiogenic agents have recently been applied to dermatologic diseases with promising efficacy. ( J Am Acad Dermatol 2009;61:945-58.)Learning objectives: After completing this learning activity, participants should be able to recognize cutaneous diseases where angiogenesis is likely to be an important factor, recognize scenarios where angiogenic therapy may be useful in conjunction with traditional therapies, and be able to use angiogenicmediating agents in the treatment of dermatologic disease.

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“…The main findings are cutaneous manifestations, that are critical features in helping to establish diagnosis [2,3]. The most common cutaneous manifestations are: hypopigmented maculas, shagreen patches, periungueal fibromas, forehead fibrous plaques, and facial angiofibromas, one of the most prevalent that appear in 80 to 90 % of patients [4].…”

Section: Introductionmentioning

confidence: 99%

Tuberous Sclerosis with Severe Cutaneous Manifestation and Multiples Facial Angiofibromas

Garcia

Carli

Oliveira

et al. 2016

Head and Neck Pathol

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Tuberous sclerosis is an extremely variable disease that can affect virtually any organ in the body. The most common findings are cutaneous manifestations, that are critical features in helping to establish diagnosis. We present a case of young man with diagnosis of tuberous sclerosis presenting multiple shagreen patches around the trunk, in the neck and genital region; large plaques with uneven surfaces on the right side of the lower back; and multiple papular lesions in his face, particularly around the nasolabial region, eyebrows and forehead. Considering that tuberous sclerosis is a disease with a highly variable clinical presentation, thus dentists and doctors should be aware of the different manifestations that may be found.

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Tuberous sclerosis complex: Advances in diagnosis, genetics, and management

Cited by 339 publications

References 110 publications

The long and winding road to rational treatment of cancer associated with LKB1/AMPK/TSC/mTORC1 signaling

The long and winding road to rational treatment of cancer associated with LKB1/AMPK/TSC/mTORC1 signaling

Angiogenesis in cutaneous disease: Part II

Tuberous Sclerosis with Severe Cutaneous Manifestation and Multiples Facial Angiofibromas

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