Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES. We report a female and her father with BPES type I, who presented the 1092-1108dup17 mutation in the FOXL2 gene. Molecular studies and the typical clinical features of BPES should allow the dermatologist to reach an early diagnosis and permit the treatment of eyelid alterations and the investigation of infertility.
Leon-Mateos
Alvaro
A
Department of Dermatology, POVISA, Vigo, Spain. alml313@gmail.com
Ginarte
Manuel
M
Ruiz-Ponte
Clara
C
Carracedo
Angel
A
Toribio
Jaime
J
D000328:Adult; D016569:Blepharophimosis / Q000235:genetics* / Q000601:surgery; D001763:Blepharoptosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D009154:Mutation; D013577:Syndrome
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors