Literature DB >> 30246432

The cutaneous manifestations of tuberous sclerosis complex.

Quoc-Bao D Nguyen1, Mary D DarConte1, Adelaide A Hebert1.   

Abstract

Tuberous sclerosis complex (TSC) is a genetic multisystem disease with variable manifestations that can prominently involve the skin. The diagnosis of this disorder has evolved over the past two centuries. The 2012 TSC criteria emphasizes the importance of dermatological findings; orocutaneous manifestations account for 4 of 11 major criterion and 3 of 6 minor criterion. A detailed clinical dermatological evaluation is recommended for both pediatric and adult patients undergoing initial evaluation for TSC. Comprehensive dermatologic evaluation is extremely helpful when assessing these lesions and constructing a differential diagnosis.
© 2018 Wiley Periodicals, Inc.

Entities:  

Keywords:  tuberous sclerosis

Mesh:

Year:  2018        PMID: 30246432     DOI: 10.1002/ajmg.c.31649

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  4 in total

1.  Construction of TSC2 knockout cell line using CRISPR/Cas9 system and demonstration of its effects on NIH-3T3 cells.

Authors:  Xu Wang; Yang Zhao; Zhan Wang; Zhangcheng Liao; Yushi Zhang
Journal:  Cell Biochem Biophys       Date:  2022-10-01       Impact factor: 2.989

Review 2.  Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Authors:  Vania Nosé; Alexander J Lazar
Journal:  Head Neck Pathol       Date:  2022-03-21

3.  Benign tumors in TSC are amenable to treatment by GD3 CAR T cells in mice.

Authors:  Ancy Thomas; Saurav Sumughan; Emilia R Dellacecca; Rohan S Shivde; Nicola Lancki; Zhussipbek Mukhatayev; Cristina C Vaca; Fei Han; Levi Barse; Steven W Henning; Jesus Zamora-Pineda; Suhail Akhtar; Nikhilesh Gupta; Jasmine O Zahid; Stephanie R Zack; Prathyaya Ramesh; Dinesh Jaishankar; Agnes Sy Lo; Joel Moss; Maria M Picken; Thomas N Darling; Denise M Scholtens; Daniel F Dilling; Richard P Junghans; I Caroline Le Poole
Journal:  JCI Insight       Date:  2021-11-22

Review 4.  Imaging More than Skin-Deep: Radiologic and Dermatologic Presentations of Systemic Disorders.

Authors:  Mehrzad Shafiei; Firoozeh Shomal Zadeh; Bahar Mansoori; Hunter Pyle; Nnenna Agim; Jorge Hinojosa; Arturo Dominguez; Cristina Thomas; Majid Chalian
Journal:  Diagnostics (Basel)       Date:  2022-08-19
  4 in total

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