Hidrotic ectodermal dysplasia with corneal involvement

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• 作者：John P. Donahue ; Caroline J. Shea ; Michael J. Taravella
• 关键词：Bronchial epithelial cells ; ERK1/2 ; GM-CSF ; MAP kinase ; Raf1
• 刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus
• 出版年：1999
• 出版时间：December 1999
• 年：1999
• 卷：3
• 期：6
• 页码：372-375
• 全文大小：176 K

文摘

Background: Persons with ectodermal dysplasias classically have defects in hair, teeth, nails, and sweat glands. Other tissues derived from ectoderm may also be involved. Ocular involvement in ectodermal dysplasias primarily occurs in anhidrotic forms. Methods: We describe a father and son with hidrotic ectodermal dysplasia. Results: Both patients had recurrent corneal epithelial defects from birth, corneal neovascularization, and strabismus. The father had cataracts with crystalline and amorphous inclusions at an early age. Both patients also had alopecia and skin abnormalities. Conclusions: A father and son with a previously unreported hidrotic ectodermal dysplasia and unusual corneal findings are described. (J AAPOS 1999;3:372-5)