{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:57:24Z","timestamp":1790632644900,"version":"4.1.0"},"reference-count":58,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T00:00:00Z","timestamp":1662422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat gland deficiency. HED is estimated to affect at least 1 in 17,000 people worldwide. Patients with HED have characteristic facies with periorbital hyperpigmentation, depressed nasal bridge, malar hypoplasia, and absent or sparse eyebrows and eyelashes. The common ocular features of HED include madarosis, trichiasis, and ocular chronic surface disease due to dry eye syndrome, which manifests clinically with discomfort, photophobia, and redness. Dry eye is common in HED and results from a combination of ocular surface defects: mucus abnormalities (abnormal conjunctival mucinous glands), aqueous tear deficiency (abnormalities in the lacrimal gland) and lipid deficiency (due to the partial or total absence of the meibomian glands; modified sebaceous glands with the tarsal plate). Sight-threatening complications result from ocular surface disease, including corneal ulceration and perforation with subsequent corneal scarring and neovascularization. Rare ocular features have been reported and include bilateral or unilateral congenital cataracts, bilateral glaucoma, chorioretinal atrophy and atresia of the nasolacrimal duct. Recognition of the ocular manifestations of HED is required to perform clinical surveillance, instigate supportive and preventative treatment, and manage ocular complications.<\/jats:p>","DOI":"10.3390\/children9091357","type":"journal-article","created":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T20:52:51Z","timestamp":1662497571000},"page":"1357","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia"],"prefix":"10.3390","volume":"9","author":[{"given":"Michele","family":"Callea","sequence":"first","affiliation":[{"name":"Pediatric Dentistry and Special Dental Care Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Bignotti","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, 25121 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2275-4917","authenticated-orcid":false,"given":"Francesco","family":"Semeraro","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, 25121 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0193-2171","authenticated-orcid":false,"given":"Francisco","family":"Cammarata-Scalisi","sequence":"additional","affiliation":[{"name":"Regional Hospital of Antofagasta, Azapa, Antofagasta 5935, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2084-1267","authenticated-orcid":false,"given":"Jinia","family":"El-Feghaly","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics, University of Rochester, Rochester, NY 14627, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5323-3620","authenticated-orcid":false,"given":"Antonino","family":"Morabito","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito","family":"Romano","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, 25121 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1246-4166","authenticated-orcid":false,"given":"Colin E.","family":"Willoughby","sequence":"additional","affiliation":[{"name":"Genomic Medicine, Biomedical Sciences Research Institute, Ulster University, Coleraine BT52 1SA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1159\/000152419","article-title":"Ectodermal dysplasias","volume":"21","year":"1971","journal-title":"Hum. 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