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Journal of Pediatric Neurology 2024; 22(01): 060-063
DOI: 10.1055/s-0042-1760196
Case Report

Limb Hypertrophy—An Uncommon Presentation Yet a Common Link among Neurocutaneous Syndromes: A Series of Three Cases

Akriti Agrawal 
1   Department of Dermatology, Venereology and Leprology, All India Institute of Medical Sciences (AIIMS) Jodhpur, Rajasthan, India
,
Anil Budania
1   Department of Dermatology, Venereology and Leprology, All India Institute of Medical Sciences (AIIMS) Jodhpur, Rajasthan, India
,
Lokesh Saini
2   Department of Pediatrics, All India Institute of Medical Sciences (AIIMS) Jodhpur, Rajasthan, India
,
Sarbesh Tiwari
3   Department of Radiology, All India Institute of Medical Sciences (AIIMS) Jodhpur, Rajasthan, India
,
Deepak Vedant
4   Department of Pathology, All India Institute of Medical Sciences (AIIMS) Jodhpur, Rajasthan, India
,
Benetta Benny
1   Department of Dermatology, Venereology and Leprology, All India Institute of Medical Sciences (AIIMS) Jodhpur, Rajasthan, India
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Abstract

Limb hypertrophy is an unusual presentation associated with neurocutaneous syndromes. The mechanism behind this presentation may vary from case to case. Here, we describe a case series of three different syndromes linked by a common clinical finding of limb hypertrophy.

Keywords

neurocutaneous syndromes - limb hypertrophy - mTOR

Written Informed Consent

Written informed consent has been obtained from the patients for publication purposes.




Publication History

Received: 26 July 2022

Accepted: 20 November 2022

Article published online:
30 December 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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