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Year : 2014  |  Volume : 5  |  Issue : 1  |  Page : 91

Tuberous sclerosis complex

Department of Dermatology, Father Muller Medical College, Kankanady, Mangalore, Karnataka, India

Date of Web Publication15-Mar-2014

Correspondence Address:
Namitha Chathra
Department of Dermatology, Father Muller Medical College, Kankanady, Mangalore - 575 002, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0975-9727.128969

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How to cite this article:
Chathra N, Bhat M R. Tuberous sclerosis complex. Muller J Med Sci Res 2014;5:91

How to cite this URL:
Chathra N, Bhat M R. Tuberous sclerosis complex. Muller J Med Sci Res [serial online] 2014 [cited 2023 Mar 23];5:91. Available from: https://www.mjmsr.net/text.asp?2014/5/1/91/128969

Dear Editor,

A 28-year-old male with insignificant family history presented with asymptomatic reddish raised lesions on the face and neck, which were first noticed by him when he was 8 years old. There is no history suggestive of systemic involvement or progression of the lesions. On examination, several reddish-brown papules of varying sizes were noted [Figure 1]a which were confirmed as angiofibromas with the aid of histology. He was also found to have multiple randomly distributed dental enamel pits [Figure 2]a. With a diagnosis of tuberous sclerosis in mind, he was evaluated further. Fundus examination revealed left astrocytoma [Figure 2]b, computed tomography scan of the brain showed a few calcified subependymal nodules [Figure 2]c, ultrasonography abdomen was suggestive of adrenal lipoma [Figure 2]d and echocardiogram did not detect any abnormality. A definite diagnosis of tuberous sclerosis was made based on the presence of two major features. [1] The skin lesions were ablated using carbon dioxide laser [Figure 1]b but patient refused further evaluation and management of systemic lesions.
Figure 1: (a) Multiple angiofibromas on the face. (b) Post ablation with CO2 laser

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Figure 2: (a) Multiple randomly distributed dental enamel pits. (b) Fundus examination-left astrocytoma. (c) Computed tomography scan of the braincalcified subependymal nodules. (d) Ultrasonography abdomen-adrenal lipoma

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Tuberous sclerosis complex is an autosomal dominant multisystem hamartomatosis involving mainly the skin, eye, central nervous system, heart, lungs, kidneys and bones. The incidence is as high as 1 in 6000 live births and the affected individuals exhibit decreased overall survival in comparison with the general population, although some may have a normal life span with few medical complications. [2]

  References Top

1.Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol 1998;13:624-8.  Back to cited text no. 1
2.Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991;615:125-7.  Back to cited text no. 2


  [Figure 1], [Figure 2]


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