Jpn J Clin Oncol 2014;44(11)1130
Image of the Month Macrodactyly and Poliosis in Tuberous Sclerosis Complex
Figure 2.
Figure 3.
Figure 4.
A 10-year-old girl with mixed Malaysian – Burmese parentage under follow-up for tuberous sclerosis complex (TSC), epilepsy and mental retardation was noted to have a slow enlargement of her right thumb and index finger over a 5-year duration (Fig. 1). A white patch on the head (poliosis) was also present (Fig. 2). The diagnosis of TSC was confirmed by the presence of hypomelanotic macules, cortical tubers, subependymal nodules, periungual fibroma and poliosis. Although our molecular genetic analyses of TSC1 and TSC2 in this patient failed to identify any disease-causing mutation, information on genetic mutation is not mandatory in establishing TSC diagnosis. Magnetic resonance imaging scan of the brain showed cortical tubers (Fig. 3—white arrows) as well as subependymal nodules (Fig. 3—black arrows). X-ray of the right hand showed irregular periosteal new bone formation (Fig. 4). Her epilepsy is currently controllable by medication but she remains mentally retarded. TSC has been associated with numerous tumor growths in various organs such as brain, retina, lung, heart, kidney, ovaries and testis. However, the involvement of new bone formation and soft tissue overgrowth has not been commonly described. We postulate that the macrodactyly is a form of tumorigenesis. Tumorigenesis has been associated with the pathogenesis of TSC. Our finding of macrodactyly has not been described in the current diagnostic criteria for TSC (2013) and thus could be an addition to the existing clinical features of TSC. Teguh Haryo Sasongko1,3, Nur Farrah Dila Ismail1,3, N.A.M. Nik Mohd Ariff1,3 and Z.A.M.H. Zabidi-Hussin2,3,* 1 Human Genome Center, Universiti Sains Malaysia, Kubang Kerian 2 Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian 3 Center for Neuroscience Services and Research, Universiti Sains Malaysia, USM Health Campus, Kubang Kerian, Malaysia * For reprints and all correspondence: Prof. Z.A.M.H. Zabidi-Hussin, Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia; E-mail: [email protected] doi:10.1093/jjco/hyu157 Advance Access Publication 15 October 2014
Acknowledgement The study on tuberous sclerosis complex in Universiti Sains Malaysia was funded by a Research University Grant No. 1001/ PPSP/812137 for Dr Teguh Haryo Sasongko and a Neuroscience Grant No. 304/CNEURO/652205/K134 for Professor Z.A.M.H. Zabidi-Hussin.
# The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected]
Downloaded from http://jjco.oxfordjournals.org/ at McMaster University Library on June 28, 2015
Figure 1.
Image of the Month Macrodactyly and Poliosis in Tuberous Sclerosis Complex
Figure 2.
Figure 3.
Figure 4.
A 10-year-old girl with mixed Malaysian – Burmese parentage under follow-up for tuberous sclerosis complex (TSC), epilepsy and mental retardation was noted to have a slow enlargement of her right thumb and index finger over a 5-year duration (Fig. 1). A white patch on the head (poliosis) was also present (Fig. 2). The diagnosis of TSC was confirmed by the presence of hypomelanotic macules, cortical tubers, subependymal nodules, periungual fibroma and poliosis. Although our molecular genetic analyses of TSC1 and TSC2 in this patient failed to identify any disease-causing mutation, information on genetic mutation is not mandatory in establishing TSC diagnosis. Magnetic resonance imaging scan of the brain showed cortical tubers (Fig. 3—white arrows) as well as subependymal nodules (Fig. 3—black arrows). X-ray of the right hand showed irregular periosteal new bone formation (Fig. 4). Her epilepsy is currently controllable by medication but she remains mentally retarded. TSC has been associated with numerous tumor growths in various organs such as brain, retina, lung, heart, kidney, ovaries and testis. However, the involvement of new bone formation and soft tissue overgrowth has not been commonly described. We postulate that the macrodactyly is a form of tumorigenesis. Tumorigenesis has been associated with the pathogenesis of TSC. Our finding of macrodactyly has not been described in the current diagnostic criteria for TSC (2013) and thus could be an addition to the existing clinical features of TSC. Teguh Haryo Sasongko1,3, Nur Farrah Dila Ismail1,3, N.A.M. Nik Mohd Ariff1,3 and Z.A.M.H. Zabidi-Hussin2,3,* 1 Human Genome Center, Universiti Sains Malaysia, Kubang Kerian 2 Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian 3 Center for Neuroscience Services and Research, Universiti Sains Malaysia, USM Health Campus, Kubang Kerian, Malaysia * For reprints and all correspondence: Prof. Z.A.M.H. Zabidi-Hussin, Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia; E-mail: [email protected] doi:10.1093/jjco/hyu157 Advance Access Publication 15 October 2014
Acknowledgement The study on tuberous sclerosis complex in Universiti Sains Malaysia was funded by a Research University Grant No. 1001/ PPSP/812137 for Dr Teguh Haryo Sasongko and a Neuroscience Grant No. 304/CNEURO/652205/K134 for Professor Z.A.M.H. Zabidi-Hussin.
# The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected]
Downloaded from http://jjco.oxfordjournals.org/ at McMaster University Library on June 28, 2015
Figure 1.
