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Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas.
Skeletal Radiol. 2017 Sep; 46(9):1293-1296.SR

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.

Authors+Show Affiliations

Department of Diagnostic Radiology, Singapore General Hospital, Singapore, Singapore. edmond.lim@mohh.com.sg.Department of Diagnostic Radiology, Singapore General Hospital, Singapore, Singapore.Department of Diagnostic Radiology, Singapore General Hospital, Singapore, Singapore.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

28578527

Citation

Lim, Y S., et al. "Tuberous Sclerosis and Its Rare Association With Macrodactyly and Fibrous Hamartomas." Skeletal Radiology, vol. 46, no. 9, 2017, pp. 1293-1296.
Lim YS, Mak MS, Mohan PC. Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas. Skeletal Radiol. 2017;46(9):1293-1296.
Lim, Y. S., Mak, M. S., & Mohan, P. C. (2017). Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas. Skeletal Radiology, 46(9), 1293-1296. https://doi.org/10.1007/s00256-017-2683-9
Lim YS, Mak MS, Mohan PC. Tuberous Sclerosis and Its Rare Association With Macrodactyly and Fibrous Hamartomas. Skeletal Radiol. 2017;46(9):1293-1296. PubMed PMID: 28578527.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas. AU - Lim,Y S, AU - Mak,M S, AU - Mohan,P C, Y1 - 2017/06/03/ PY - 2017/03/24/received PY - 2017/05/22/accepted PY - 2017/05/15/revised PY - 2017/6/5/pubmed PY - 2017/11/29/medline PY - 2017/6/5/entrez KW - Hamartoma KW - Macrodactyly KW - Sclerosis KW - Tuberous SP - 1293 EP - 1296 JF - Skeletal radiology JO - Skeletal Radiol. VL - 46 IS - 9 N2 - 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. SN - 1432-2161 UR - https://www.unboundmedicine.com/medline/citation/28578527/Tuberous_sclerosis_and_its_rare_association_with_macrodactyly_and_fibrous_hamartomas_ L2 - https://dx.doi.org/10.1007/s00256-017-2683-9 DB - PRIME DP - Unbound Medicine ER -