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ISSN 0210-5187 (Electronic)

2004, Number 6

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Med Cutan Iber Lat Am 2004; 32 (6)

Unilateral multiple facial angiofibromas

Alonso PML, Zambrano CB, Eusebio ME, Jaén OP, Cuevas SJ

Language: Spanish
References: 30
Page: 249-253
PDF size: 348.17 Kb.


ABSTRACT

Multiple bilateral facial angiofibromas are pathognomonic for the diagnosis of tuberous sclerosis. Their unilateral presence and without other criteria of tuberous sclerosis has been exceptionally referred (8 cases). We present two women with unilateral multiple facial angiofibromas. In the first patient’s daughter three facial angiofibromas were detected without segmental distribution. The second case presented acquired blindness homolateral to the cutaneous lesions. We think that a genomic mosaicism for tuberous sclerosis by a postzygotic localized mutation could explain this segmental phenotypic expression. We discuss the eventual hereditary transmission of the process in the first case and the possible deep systemic localized affectation in the second.


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