Literature DB >> 6720821

Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.

B J Mondino, P E Bath, R Y Foos, L Apt, G M Rajacich.   

Abstract

A 27-year-old woman with the syndrome characterized by ectrodactyly, ectodermal dysplasia, and cleft lip-palate had an absent lacrimal punctum in each eye, with signs and symptoms of nasolacrimal obstruction during childhood. Examination disclosed bilateral corneal vascularization and opacification, with diffuse superficial punctate staining of the ocular surface epithelium by fluorescein, an instantaneous tear film break-up time, and normal Schirmer tear measurements. A full-thickness biopsy specimen of the eyelid confirmed the absence of meibomian glands that had been suspected because of absent meibomian gland orifices and secretions. The total absence of meibomian gland secretions in this patient may be a primary feature of this case and may contribute to a lipid-deficient and unstable tear film with resultant desiccation and destruction of the ocular surface epithelium. Breakdown of the corneal epithelium in association with obstruction and infection of the nasolacrimal system may be a particularly disastrous combination for the cornea that resulted in the recurrent, severe bacterial corneal ulcers found in our patient.

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Year:  1984        PMID: 6720821     DOI: 10.1016/s0002-9394(14)76134-3

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  7 in total

Review 1.  Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review.

Authors:  Anthony F Felipe; Azin Abazari; Kristin M Hammersmith; Christopher J Rapuano; Parveen K Nagra; Baltasar Moratal Peiro
Journal:  Int Ophthalmol       Date:  2012-05-23       Impact factor: 2.031

2.  Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia.

Authors:  Pallavi Tyagi; Vipin Tyagi; Adnan A Hashim
Journal:  BMJ Case Rep       Date:  2011-04-01

3.  Ocular manifestations in a father and son with EEC syndrome.

Authors:  B Käsmann; K W Ruprecht
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-08       Impact factor: 3.117

4.  Ocular symptoms and signs in patients with ectodermal dysplasia syndromes.

Authors:  T Kaercher
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-02-13       Impact factor: 3.117

5.  Physiological effects of inactivation and the roles of Elovl3/ELOVL3 in maintaining ocular homeostasis.

Authors:  Amber Wilkerson; Nita Bhat; Hoang Quoc Hai Pham; Seher Yuksel; Igor Butovich
Journal:  FASEB J       Date:  2021-02       Impact factor: 5.834

6.  Ocular manifestations of ectodermal dysplasia.

Authors:  Daphna Landau Prat; William R Katowitz; Alanna Strong; James A Katowitz
Journal:  Orphanet J Rare Dis       Date:  2021-05-01       Impact factor: 4.303

7.  Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations.

Authors:  Ruhella R Hossain; Stephen G J Ng; Cheefoong Chong; Verona E Botha; Reid Ferguson; James McKelvie
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

  7 in total

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