title: Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.
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.
mesh_terms: D000328:Adult; D001424:Bacterial Infections / Q000209:etiology; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D003228:Conjunctiva / Q000473:pathology; D003320:Corneal Ulcer / Q000209:etiology; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005143:Eyelids / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D008537:Meibomian Glands / Q000002:abnormalities*; D012008:Recurrence; D013577:Syndrome