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      무한성 외배엽 이형성증 환자의 안과적 소견 = A Case of Ocular Manifestation of Anhidrotic Ectodermal Dysplasia

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      https://www.riss.kr/link?id=A100523150

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      다국어 초록 (Multilingual Abstract)

      Purpose: This clinical report describes the characteristics and ophthalmic treatment of a patient with anhidrotic ectodermal dysplasia showing bilateral upper eyelid entropion, conjunctival mass and dry eye syndrome. Methods: A 12-year-old boy presented to our clinic complaining of a white mass on the lower tarsal conjunctiva, foreign body sensation, and an itching in his right eye of one-year duration. He had developmental defects in his hair, teeth, nails and sweat glands. He had dry skin, a flat upper-lip, heat intolerance, a saddle-backed nose, and hypohidrosis. Ophthalmic examination showed blepharitis, a conjunctival mass, and bilateral upper eyelid entropion. Results: Upper eyelid entropion surgery was performed. An excisional biopsy of the conjunctival mass showed nonspecific acute and chronic inflammation. Conclusions: We concluded that the conjunctival mass developed as a result of chronic inflammation caused by chronic conjunctivitis and dry eye syndrome. Regular lid-hygiene with swab and lubrication is useful to minimize recurrent ocular inflammation in anhidrotic ectodermal dysplasia.
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      Purpose: This clinical report describes the characteristics and ophthalmic treatment of a patient with anhidrotic ectodermal dysplasia showing bilateral upper eyelid entropion, conjunctival mass and dry eye syndrome. Methods: A 12-year-old boy present...

      Purpose: This clinical report describes the characteristics and ophthalmic treatment of a patient with anhidrotic ectodermal dysplasia showing bilateral upper eyelid entropion, conjunctival mass and dry eye syndrome. Methods: A 12-year-old boy presented to our clinic complaining of a white mass on the lower tarsal conjunctiva, foreign body sensation, and an itching in his right eye of one-year duration. He had developmental defects in his hair, teeth, nails and sweat glands. He had dry skin, a flat upper-lip, heat intolerance, a saddle-backed nose, and hypohidrosis. Ophthalmic examination showed blepharitis, a conjunctival mass, and bilateral upper eyelid entropion. Results: Upper eyelid entropion surgery was performed. An excisional biopsy of the conjunctival mass showed nonspecific acute and chronic inflammation. Conclusions: We concluded that the conjunctival mass developed as a result of chronic inflammation caused by chronic conjunctivitis and dry eye syndrome. Regular lid-hygiene with swab and lubrication is useful to minimize recurrent ocular inflammation in anhidrotic ectodermal dysplasia.

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      참고문헌 (Reference)

      1 Clouston HR, "The major forms of hereditary ectodermal dysplasia" 40 : 1-7, 1939

      2 McNab AA, "The EEC syndrome and its ocular manifestations" 73 : 261-264, 1989

      3 Ireland IA, "Ophthalmic manifestations of ectrodactyly-ectodermal dysplasia-clefting syndrome" 14 : 295-297, 1998

      4 Kaercher T, "Ocular symptoms and signs in patients with ectodermal dysplasia syndromes" 242 : 495-500, 2004

      5 Baum JL, "Ocular manifestations of the ectrodactyly, ectodermal dyplasia, cleft lip-palate syndrome" 78 : 211-216, 1974

      6 Bron AJ, "Meibomian gland disease. Classification and grading of lid changes" 5 : 395-411, 1991

      7 Robin JB, "In vivo transillumination biomicroscopy and photography of meibomian gland dysfunction. A clinical study" 92 : 1423-1426, 1985

      8 Torens S, "Imaging of the microarchitecture and dynamics of the break-up phenomena of the preocular tear film with the aid of laser scanning microscopy" 97 : 635-639, 2000

      9 Shin SW, "Hypohidrotic ectodermal dysplasia : Report of three cases" 37 : 267-272, 1999

      10 Felsher Z, "Hereditary ectodermal dysplasia : Report of a case with experimental study" 49 : 410-414, 1944

      1 Clouston HR, "The major forms of hereditary ectodermal dysplasia" 40 : 1-7, 1939

      2 McNab AA, "The EEC syndrome and its ocular manifestations" 73 : 261-264, 1989

      3 Ireland IA, "Ophthalmic manifestations of ectrodactyly-ectodermal dysplasia-clefting syndrome" 14 : 295-297, 1998

      4 Kaercher T, "Ocular symptoms and signs in patients with ectodermal dysplasia syndromes" 242 : 495-500, 2004

      5 Baum JL, "Ocular manifestations of the ectrodactyly, ectodermal dyplasia, cleft lip-palate syndrome" 78 : 211-216, 1974

      6 Bron AJ, "Meibomian gland disease. Classification and grading of lid changes" 5 : 395-411, 1991

      7 Robin JB, "In vivo transillumination biomicroscopy and photography of meibomian gland dysfunction. A clinical study" 92 : 1423-1426, 1985

      8 Torens S, "Imaging of the microarchitecture and dynamics of the break-up phenomena of the preocular tear film with the aid of laser scanning microscopy" 97 : 635-639, 2000

      9 Shin SW, "Hypohidrotic ectodermal dysplasia : Report of three cases" 37 : 267-272, 1999

      10 Felsher Z, "Hereditary ectodermal dysplasia : Report of a case with experimental study" 49 : 410-414, 1944

      11 Weech AA, "Hereditary ectodermal dysplasia (congenital ectodermal defect). A report of two cases" 37 : 766-790, 1929

      12 Harper JI, "Genetics and genodermatoses, In Textbook of dermatology, 6th ed. v. 1" Blackwell science 1998

      13 Harper J, "Genetics and genodermatoses, In Textbook of dermatology, 5th ed. v. 1" Blackwell scientific publications 1992

      14 Darmstadt GL, "Ectodermal dysplasia, In Nelson textbook of pediatrics, 16th ed" Saunders 2000

      15 Lowell A, Goldsmith, "Disorders of the Eccrine Sweat Gland, In Dermatology in General Medicine, 5th ed. v. 1" McGrow-Hill 1999

      16 Lambert WC, "Diagnostic pitfalls in anhidrotic ectodermal dysplasia : Indication for palmar skin biopsy" 31 : 182-187, 1983

      17 Wilson FM, "Corneal changes in ectodermal dysplasia. Case report, histopathology, and differential diagnosis" 75 : 17-27, 1973

      18 Mills J, "Anhidrotic ectodermal dysplasia presenting as a pyrexia of undetermined origin in the neonatal period" 44 : 193-194, 1968

      19 Beahrs JO, "Anhidrotic ectodermal dysplasia : Predisposition to bronchial disease" 74 : 92-96, 1971

      20 Mondino BJ, "Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome" 97 : 496-500, 1984

      21 Kim SH, "A case of hypohidrotic ectodermal dysplasia" 39 : 955-958, 2001

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      연월일 이력구분 이력상세 등재구분
      2023 평가예정 해외DB학술지평가 신청대상 (해외등재 학술지 평가)
      2020-01-01 평가 등재학술지 유지 (해외등재 학술지 평가) KCI등재
      2017-01-01 평가 등재학술지 유지 (계속평가) KCI등재
      2013-01-01 평가 등재 1차 FAIL (등재유지) KCI등재
      2010-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2007-01-01 평가 등재학술지 선정 (등재후보2차) KCI등재
      2006-01-01 평가 등재후보 1차 PASS (등재후보1차) KCI등재후보
      2005-01-01 평가 등재후보학술지 유지 (등재후보1차) KCI등재후보
      2003-01-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      기준연도 WOS-KCI 통합IF(2년) KCIF(2년) KCIF(3년)
      2016 0.22 0.22 0.22
      KCIF(4년) KCIF(5년) 중심성지수(3년) 즉시성지수
      0.23 0.23 0.366 0.02
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