Literature DB >> 12894111

Segmental tuberous sclerosis presenting as unilateral facial angiofibromas.

Michael A Trauner1, Beth S Ruben, Peter J Lynch.   

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant inherited disorder with cutaneous lesions of ash leaf hypopigmented macules, shagreen patches, periungual fibromas, facial angiofibromas, forehead fibrous plaques, confetti hypopigmentation, and poliosis. Multiple facial angiofibromas are a pathognomonic feature of TSC. Unilateral facial angiofibromas, however, represent a rare variant of TSC, as only 6 cases are reported in the literature. We describe a case of a 52-year-old man who presented with unilateral facial angiofibromas and poliosis without other features of TSC.

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Year:  2003        PMID: 12894111     DOI: 10.1067/mjd.2003.146

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  2 in total

Review 1.  Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

Authors:  Kim M Keppler-Noreuil; Victoria E R Parker; Thomas N Darling; Julian A Martinez-Agosto
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-11-18       Impact factor: 3.908

2.  Unilateral multiple facial angiofibromas: a case report with brief review of literature.

Authors:  Rameshwar Gutte; Uday Khopkar
Journal:  Indian J Dermatol       Date:  2013-03       Impact factor: 1.494

  2 in total

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