Atypical cutaneous presentation of tuberous sclerosis complex: Giant angiofibroma on the scalp

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 system[1]. The main dermatological manifestations of TSC are hypochromic macules (ash leaf spots), facial angiofibromas, fibrous cephalic plaques, periungual fibroids, shagreen patch, and confetti lesions[2].

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 literature[3].

Figure 1Massive lesion of soft parts in the occipital region presenting fibroelastic consistency, compatible with giant angiofibroma.

Figure 2Hyperchromic papule on the left forehead (A) and small hyperchromic papular lesions in the malar regions (B).

Figure 3Typical 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.

Figure 4CT (A) and MRI scans (B) showing a soft tissue lesion characterized by marked cutaneous thickening in the occipital region.

Conflict of interest:

There is no conflict of interest to declare.

Authors’ contributions:

LFF, LATT, DMCC: manuscript composition; LBMS, MLD: manuscript review.

• References

• 1 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 (07) e32 https://doi.org/10.1148/rg.e32
• 2 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 (03) 323-331 https://doi.org/10.1590/abd1806-4841.20186972
• 3 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: 870-870 https://doi.org/10.13070/rs.en.1.870

Publication History

Received: 09 August 2021

Accepted: 19 August 2021

Article published online:
31 January 2023