Literature DB >> 12452918

Tuberous sclerosis: a presentation of less-commonly encountered stigmata.

B S Morris1, A Garg, P J Jadhav.   

Abstract

The protean manifestations of the tuberous sclerosis complex have lent this condition to extensive review in textbooks and in the medical literature. This condition generally presents by virtue of its neurological manifestations. Osseous stigmata, when encountered, are generally asymptomatic and do not require specific treatment owing to their benignity. We present the case of a young man with a slowly enlarging facial swelling for whom cosmetic surgery was considered. The swelling, present since childhood, had in time assumed disfiguring proportions. In what was hitherto considered an isolated facial deformity, a skull radiograph followed by CT revealed neurological stigmata of tuberous sclerosis. A large cerebellar hamartoma, proliferative soft tissue in the scalp adjacent to focal hyperostosis of the calvarium and the accompanying hemifacial changes seen in this patient constitute less commonly described features of tuberous sclerosis.

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Year:  2002        PMID: 12452918     DOI: 10.1046/j.1440-1673.2002.01098.x

Source DB:  PubMed          Journal:  Australas Radiol        ISSN: 0004-8461


  2 in total

1.  Neural Crest-Specific TSC1 Deletion in Mice Leads to Sclerotic Craniofacial Bone Lesion.

Authors:  Fang Fang; Shaogang Sun; Li Wang; Jun-Lin Guan; Marco Giovannini; Yuan Zhu; Fei Liu
Journal:  J Bone Miner Res       Date:  2015-07       Impact factor: 6.741

2.  A mouse model of craniofacial bone lesion of tuberous sclerosis complex.

Authors:  Fang Fang; Xiaoxi Wei; Min Hu; Fei Liu
Journal:  Musculoskelet Regen       Date:  2015
  2 in total

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