키드 증후군의 안과적 증상과 조직학적 특징

• 영문명: Ocular Manifestations and Histologic Characteristics of Keratitis-Ichthyosis-Deafness (KID) Syndrome
• 발행기관: 대한안과학회
• 저자명: 정재훈 전연숙 이수현 정행선 김재찬,Jae Hoon Jeong, M.D., Yeoun Sook Chun, M.D., Ph.D., Soo Hyun Lee, Ph.D., Haeng Sun Jeong, Ph.D., Jae Chan Kim, M.D., Ph.D.
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume49,number9, 1532~1538쪽, 전체 7쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2008.09.15

영문 초록

Purpose: Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder presenting the triad of vascularizing keratitis, erythrokeratoderma, and sensorineural deafness. Ocular manifestations such as hyperkeratinization of the eyelids, loss of eyelashes, keratoconjunctivitis sicca, corneal erosions, ulceration, neovascularization, and scarring opacity may be absent or mild, but if present and severe, they can lead to major visual loss. We report a patient with KID syndrome with severe ocular manifestations and the histologic characteristics of a corneal lesion. Case summary: A 5-year-old boy was referred to the Ophthalmology Department for bilateral hyperkeratinization of eyelids, bare eyelashes, and corneal opacity. He showed hyperkeratotic skin lesions and sensorineural hearing loss. Molecular analysis showed a mutation in the GJB2 gene and confirmed the diagnosis of KID syndrome. Initial conservative treatment did not preserve ocular surface integrity, and instead it was maintained by surgical procedures including superficial lamellar keratectomy with amniotic membrane transplantation. The histologic characteristics of corneal lesions are abnormal epithelial differentiation, absence of connexin 26 expression, and partial destruction of the basement membrane. J Korean Ophthalmol Soc 2008;49(9):1532-1538

키워드

Histologic characteristics, KID syndrome, Ocular manifestations