Literature DB >> 28578527

Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas.

Y S Lim1, M S Mak2, P C Mohan2.   

Abstract

Tuberous sclerosis complex is a genetic disease that results in abnormal cellular proliferation and hamartoma growths in multiple organ systems. However, macrodactyly and subcutaneous fibrous harmatomas are very uncommon associations with this disease. We see these rare manifestations in our case report of a 16-year-old female with tuberous sclerosis complex and discuss the imaging findings and pathogenetics of these manifestations. Through this, our report aims to expand the known clinical spectrum of features seen in tuberous sclerosis and aid in its diagnosis.

Entities:  

Keywords:  Hamartoma; Macrodactyly; Sclerosis; Tuberous

Mesh:

Year:  2017        PMID: 28578527     DOI: 10.1007/s00256-017-2683-9

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN: 0364-2348            Impact factor:   2.199


  19 in total

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Journal:  Curr Opin Cell Biol       Date:  1999-04       Impact factor: 8.382

2.  The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management.

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Journal:  Arch Dis Child       Date:  2011-08-03       Impact factor: 3.791

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Authors:  D W Webb; A Clarke; A Fryer; J P Osborne
Journal:  Br J Dermatol       Date:  1996-07       Impact factor: 9.302

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Authors:  J Zaremba
Journal:  J Ment Defic Res       Date:  1968-03

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Authors:  Capt Shelley L Aldrich; Chien-Hui Hong; Leslie Groves; Cara Olsen; Joel Moss; Thomas N Darling
Journal:  J Am Acad Dermatol       Date:  2010-05-11       Impact factor: 11.527

6.  Unilateral insensate macrodactyly secondary to tuberous sclerosis in a child.

Authors:  A Y Shin; A A Garay
Journal:  Am J Orthop (Belle Mead NJ)       Date:  1997-01

7.  Macrodactyly and poliosis in tuberous sclerosis complex.

Authors:  Teguh Haryo Sasongko; Nur Farrah Dila Ismail; N A M Nik Mohd Ariff; Z A M H Zabidi-Hussin
Journal:  Jpn J Clin Oncol       Date:  2014-10-15       Impact factor: 3.019

8.  Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling.

Authors:  Xinsheng Gao; Yong Zhang; Peter Arrazola; Okio Hino; Toshiyuki Kobayashi; Raymond S Yeung; Binggeng Ru; Duojia Pan
Journal:  Nat Cell Biol       Date:  2002-09       Impact factor: 28.824

Review 9.  Imaging of disorders affecting the bone and skin.

Authors:  Peter P Lew; Steven S Ngai; Reyhaneh Hamidi; John K Cho; Ron A Birnbaum; David H Peng; Rajeev K Varma
Journal:  Radiographics       Date:  2014 Jan-Feb       Impact factor: 5.333

10.  Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity.

Authors:  R Wienecke; A König; J E DeClue
Journal:  J Biol Chem       Date:  1995-07-07       Impact factor: 5.157

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