Keratopathy in a Family with the Ectrodactyly-Ectodermal Dysplasia-clefting Syndrome

Ektodermal displazili olgularda konjonktiva bası sitolojisi

“…In cases with ectodermal dysplasia, ocular pathologies reported include loss of meibomian glands, poliosis, hypoplasia of the nasolacrimal canal, keratopathy, ankiloblepharon and lid hypoplasia (3)(4)(5)(6)(7)(8).…”

“…The main characteristics of this rare autosomal recessive hereditary disease include abnormalities of the epidermis and its appendages (hair, nails, eccrine and sebaceous glands) together with lack of sweat glands or more frequently decrease in sweat glands which leads to increase in body temperature (1). Ocular findings including strabismus, telecanthus, blepharophymosis, entropion, dacriocystitis, blepharitis, conjunctivitis, meibomian gland dysfunction, corneal opacity and cataract may be observed in individuals with ectodermal dysplasia (3)(4)(5)(6)(7)(8)(9). Recurring corneal erosions, opacifications, vascularization and perforations affect various ocular surface disorders.…”

“…Recurring corneal erosions, opacifications, vascularization and perforations affect various ocular surface disorders. However, the reason of ocular surface disorders in individuals with ectodermal dysplasia is not known exactly (6,7). To prevent corneal demage these patients should be followed up with artificial tear.…”

Argon laser surgery of mucous membranes papillomatosis in EEC syndrome and Goltz syndrome

“…Although its acronym suggests only ectrodactyly, ectodermal dysplasia and clefting of the lip and palate, numerous other abnormalities associated with this rare autosomal dominant entity are extensive. Ocular involvement in the EEC syndrome includes nasolacrimal anomalies, progressive keratopathy, blepharitis, chronic dacryocystitis, dystrophic keratitis, corneal scarring and neovascularization, absence of meibomian glands, photophobia, epiphora as well as retinal complication [20,22,30,31,39]. Conductive hearing loss associated with the EEC syndrome was reported in 13% of the patients [23,36] and mental retardation in 8% [23].…”

Einsatz eines lipidhaltigen Tränenersatzmittels bei Patienten mit ektodermaler Dysplasie

“…Demgegenuber treten die Augenveranderungen in den Hintergrund [9]. In der bisher vorliegenden Literatur wurden bei Patienten mit EEC-Syndrom Veranderungen des Tranenfilms and Anomalien der Meibom-Drusen beschrieben [10]. Des weiteren waren Auffalligkeiten der Wimpern and Augenbrauen bei ektodermaler Dysplasie genannt.…”