Congenital Symblephara, Progressive Corneal Pannus, and Skin Defects

Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago. To date, a number of new clinical manifestations have been reported and considerable knowledge has accumulated regarding etiology and pathogenetic mechanisms. The purpose of this review is to gather these more recent data and to provide organized and reliable information. So we reviewed 159 cases of FDH that had been reported from 1990 to 2012, summarized the new discoveries, and suggested a potential standard for the diagnosis of FDH. We also reported on a Chinese girl with FDH, who was clinically and histologically in accord with FDH, as an example.

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Focal dermal hypoplasia: updates

Wang

Jin

Zhao

et al. 2013

Oral Diseases

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Congenital Symblephara, Progressive Corneal Pannus, and Skin Defects

Abstract: The authors describe a girl with congenital symblephara, progressive corneal pannus, and skin defects caused by focal dermal hypoplasia. Her corneal neovascularization progressed to full pannus and blindness.

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References 10 publications

Focal dermal hypoplasia: updates

Focal dermal hypoplasia: updates

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