Literature DB >> 19683195

Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosis.

Juan Pablo Lopez1, Diego Ossandón, Patricio Miller, Lorena Sánchez, Augusto Winter.   

Abstract

Tuberous sclerosis is a multisystem autosomal-dominant disease characterized by hamartomatous growths in the brain, skin, kidneys, eyes, and heart, but it may affect almost any organ. Retinal hamartomas are 1 of the major diagnostic criteria for tuberous sclerosis and occur in approximately 50% of patients. Nonretinal findings include angiofibromas of the eyelid, strabismus, and pseudo-colobomas of the lens and iris. We report a case of a newborn with congenital eyelid angiofibroma mimicking complete congenital blepharoptosis that was revealed by central nervous system imaging to be part of the tuberous sclerosis complex.

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Year:  2009        PMID: 19683195     DOI: 10.1016/j.jaapos.2009.05.008

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  2 in total

1.  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

Review 2.  An Update on the Ophthalmologic Features in the Phakomatoses.

Authors:  Solmaz Abdolrahimzadeh; Andrea Maria Plateroti; Santi Maria Recupero; Alessandro Lambiase
Journal:  J Ophthalmol       Date:  2016-07-17       Impact factor: 1.909

  2 in total

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