The Phakomatoses

Huson, Susan M.

doi:10.1016/b978-0-12-383834-6.00128-2

Cited by 2 publications

(2 citation statements)

References 494 publications

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“…The practical problem is that, even with Mendelian disorders, there can be an astounding range of manifestations. Tuberose sclerosis constitutes an obvious example (Huson & Korf, 2002). At one extreme it constitutes an extremely handicapping condition with severe intellectual disability, epilepsy and multiple brain tubers.…”

Section: Descriptive Psychiatrymentioning

confidence: 99%

Research Review: Child psychiatric diagnosis and classification: concepts, findings, challenges and potential

Rutter

2011

Journal of Child Psychology and Psychiatry

192

154

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The conceptual issues are briefly noted with respect to the distinctions between classification and diagnosis; the question of whether mental disorders can be considered to be 'diseases'; and whether descriptive psychiatry is outmoded. The criteria for diagnosis are reviewed, with the conclusion that, at present, there are far too many diagnoses, and a ridiculously high rate of supposed comorbidity. It is concluded that a separate grouping of disorders with an onset specific to childhood should be deleted, the various specific disorders being placed in appropriate places, and the addition for all diagnoses of the ways in which manifestations vary by age. A new group should be formed of disorders that are known to occur but for which further testing for validity is needed. The overall number of diagnoses should be drastically reduced. Categorical and dimensional approaches to diagnosis should be combined. The requirement of impairment should be removed from all diagnoses. Research and clinical classifications should be kept separate. Finally, there is a need to develop a primary care classification for causes of referral to both medical and non-medical primary care.

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Section: Descriptive Psychiatrymentioning

confidence: 99%

Research Review: Child psychiatric diagnosis and classification: concepts, findings, challenges and potential

Rutter

2011

Journal of Child Psychology and Psychiatry

192

154

View full text Add to dashboard Cite

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“…hamartomas. Other cardinal features involve the central nervous system and the eyes (1). The most frequent forms of phakomatoses are:…”

Section: Introductionmentioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL. Phakomatoses share some phenotypic traits such as neurological, ophthalmological and cutaneous features. Patients with these diseases are also predisposed to developing multiple endocrine tissue tumors, e.g., pheochromocytomas/paragangliomas are frequent in VHL and NF1. All forms of phakomatoses except CS may be associated with digestive neuroendocrine tumors. More rarely, thyroid cancer and pituitary or parathyroid adenomas have been reported. These susceptibilities are noteworthy, because their occurrence rate, prognosis and management differ slightly from the sporadic forms. The aim of this review is to summarize current knowledge on endocrine glands tumors associated with VHL, NF1, TSC, and CS, especially neuroendocrine tumors and pheochromocytomas/paragangliomas. We particularly detail recent advances concerning prognosis and management, especially parenchyma-sparing surgery and medical targeted therapies such as mTOR, MEK and HIF-2 α inhibitors, which have shown truly encouraging results.

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The Phakomatoses

Cited by 2 publications

References 494 publications

Research Review: Child psychiatric diagnosis and classification: concepts, findings, challenges and potential

Research Review: Child psychiatric diagnosis and classification: concepts, findings, challenges and potential

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

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