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01-09-2017 | Case Report

Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas

Authors: Y. S. Lim, M. S. Mak, P. C. Mohan

Published in: Skeletal Radiology | Issue 9/2017

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.

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Title: Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas
Authors: Y. S. Lim
M. S. Mak
P. C. Mohan
Publication date: 01-09-2017
Publisher: Springer Berlin Heidelberg
Published in: Skeletal Radiology / Issue 9/2017
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-017-2683-9

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Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas

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