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Skeletal Radiology

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03.06.2017 | Case Report

Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas

verfasst von: Y. S. Lim, M. S. Mak, P. C. Mohan

Erschienen in: Skeletal Radiology | Ausgabe 9/2017

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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.

Webb DW, Clarke A, Fryer A, Osborne JP. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol. 1996;135:1.CrossRefPubMed

Yates JR, Maclean C, Higgins JN, et al. The tuberous sclerosis 2000 study: presentation, initial assessments and implications for diagnosis and management. Arch dis Child. 2011;96:1020.CrossRefPubMed

Sharma S, Sankhyan N, Gulati S, et al. Macrodactyly and fibrous hamartoma in a child with tuberous sclerosis complex. J Child Neurol. 2011;26:95–8.CrossRefPubMed

Lew PP, Ngai SS, Hamidi R, et al. Imaging of disorders affecting the bone and skin. Radiographics. 2014;34(1):197–216.CrossRefPubMed

Norman-Taylor F, Mayou BJ. Macrodactyly in tuberous sclerosis. J R Soc med. 1994;87:419–20.PubMedPubMedCentral

Sahoo B, Handa S, Kumar B. Tuberous sclerosis with macrodactyly. Pediatr Dermatol. 2000;17:463–5.CrossRefPubMed

Aldrich CS, Hong CH, Groves L, Olsen C, Moss J, Darling TN. Acral lesions in tuberous sclerosis complex: insights into pathogenesis. J Am Acad Dermatol. 2010;63(2):244–51.

Ghalli FE. Macrodactyly in tuberous sclerosis. Pediatr Dermatol. 2001;18(4):364–5.

Sasongko TH, Ismail NFD, Nik Mohd Ariff NAM, Zabidi-Hussin ZAMH. Macrodactyly and poliosis in tuberous sclerosis complex. Jpn J Clin Oncol. 2014;44(11):1130

10.

Shin AY, Garay AA. Unilateral insensate macrodactyly secondary to tuberous sclerosis in a child. Am J Orthop (Belle Mead NJ). 1997;26(1):30–2.

11.

Tung HE, Shih SL. Tuberous sclerosis with rare presentation of macrodactyly. Pediatr Radiol. 2009;39(8):878.

12.

Kousseff BG. Tuberous sclerosis and macrodactyly. Dysmorph Clin Genet. 1989;3:5–7.

13.

Ortonne J-P, Jeune R, Fulton R, Thiovolet J. Primary localised gigantism and tuberous sclerosis. Arch Dermatol. 1982;118:878–9.

14.

Wallis CE, Beighton PH. Tuberous sclerosis with macrodactyly. Dysmorph Clin Genet. 1989;3:2–4.

15.

Zaremba J. Tuberous sclerosis: a clinical and genetic investigation. J Ment Defic Res. 1968;12:63–80.

16.

Yağmur H, Yüksel A, Kayserili H. Prenatal sonographic diagnosis and evaluation of isolated macrodactyly, prenatal diagnosis—morphology scan and invasive methods, Dr. Richard Choy (Ed.), ISBN: 978–953–51-0614-2, InTech. 2012. Available from: http://www.intechopen.com/books/prenatal-diagnosismorphology-scan-and-invasive-methods/prenatal-sonographic-diagnosis-and-evaluation-of-isolatedmacrodactyly

17.

Luttrell LM, Daaka Y, Lefkowitz RJ. Regulation of tyrosine kinase cascades by G-protein-coupled receptors. Curr Opin Cell Biol. 1999;11:177.CrossRefPubMed

18.

Tee AR, Fingar DC, Manning BD, et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA. 2002;99:13571.CrossRefPubMedPubMedCentral

19.

Benvenuto G, Li S, Brown SJ, et al. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene. 2000;19:6306.CrossRefPubMed

20.

Wienecke R, König A, DeClue JE. Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity. J Biol Chem. 1995;270:16409.CrossRefPubMed

21.

Gao X, Zhang Y, Arrazola P, et al. Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling. Nat Cell Biol. 2002;4:699.CrossRefPubMed

22.

Han H, Lim G, You C. A large infiltrating fibrous hamartoma of infancy in the abdominal wall with rare associated tuberous sclerosis. Pediatr Radiol. 2009;39:743–6.CrossRefPubMed

Titel: Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas
verfasst von: Y. S. Lim
M. S. Mak
P. C. Mohan
Publikationsdatum: 03.06.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: Skeletal Radiology / Ausgabe 9/2017
Print ISSN: 0364-2348
Elektronische ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-017-2683-9

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