Tuberous sclerosis (TSC) is an autosomal dominant neurocutaneous syndrome characterized by several abnormalities, including benign tumors of the embryonic ectoderm in multiple organs, such as skin, eyes, and central nervous system11 Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008 Nov-Dec;28(7):e32. https://doi.org/10.1148/rg.e32.
https://doi.org/10.1148/rg.e32...
. The main dermatological manifestations of TSC are hypochromic macules (ash leaf spots), facial angiofibromas, fibrous cephalic plaques, periungual fibroids, shagreen patch, and confetti lesions22 Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCDM. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol. 2018 Jun;93(3):323-31. https://doi.org/10.1590/abd1806-4841.20186972.
https://doi.org/10.1590/abd1806-4841.201...
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A 26-year-old woman presented with a giant angiofibroma with an atypical and rare symptom of TSC, the main symptom being the skin lesions (Figures 1, 2, 3 and 4). The giant and asymmetric form is described as a rare presentation in the literature33 Samia Y, Yousra C, Monia Y, Narjes M, Mouna A, Amel B, et al. Giant Angiofibroma associated with tuberous sclerosis: a case report. Research. 2014 Jun;1:870. https://doi.org/10.13070/rs.en.1.870
https://doi.org/10.13070/rs.en.1.870...
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Massive lesion of soft parts in the occipital region presenting fibroelastic consistency, compatible with giant angiofibroma.
Hyperchromic papule on the left forehead (A) and small hyperchromic papular lesions in the malar regions (B).
Typical lesions of tuberous sclerosis. In CT scans (A and B), it is possible to recognize subependymal nodules, some of which are calcified (arrow in A) and found in the topography of the left Monro foramen (arrow in B). Also, note the presence of giant occipital angiofibroma in these CT scans (A and B). FLAIR-weighted MRI image (C) showing evidence of hypersignal in the white and gray matters compatible with tubers.
References
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1Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008 Nov-Dec;28(7):e32. https://doi.org/10.1148/rg.e32
» https://doi.org/10.1148/rg.e32 -
2Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCDM. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol. 2018 Jun;93(3):323-31. https://doi.org/10.1590/abd1806-4841.20186972
» https://doi.org/10.1590/abd1806-4841.20186972 -
3Samia Y, Yousra C, Monia Y, Narjes M, Mouna A, Amel B, et al. Giant Angiofibroma associated with tuberous sclerosis: a case report. Research. 2014 Jun;1:870. https://doi.org/10.13070/rs.en.1.870
» https://doi.org/10.13070/rs.en.1.870
Publication Dates
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Publication in this collection
17 Dec 2021 -
Date of issue
Apr 2022
History
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Received
09 Aug 2021 -
Accepted
19 Aug 2021