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Growth and development
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
1.43. Delayed eruption of teeth can occur inrickets.severe neonatal hyperbilirubinaemia.hypothyroidism.cleidocranial dysostosis.ectodermal dysplasia.
Dermatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Ectodermal dysplasia is a heterogeneous group of genetic conditions defined clinically as abnormalities of two of the following ectodermal structures: skin, hair, nails and teeth. It is very variable in severity and can be part of a broader syndrome.
Hair disorders (trichoscopy)
Published in Aimilios Lallas, Enzo Errichetti, Dimitrios Ioannides, Dermoscopy in General Dermatology, 2018
Adriana Rakowska, Lidia Rudnicka
Ectodermal dysplasia (ED) is a group of inherited disorders characterized by developmental defects of tissues of ectodermal origin in at least two major structures (hair, teeth, nails, and sweat glands). About 200 types of ED have been described.84,85 The scalp hair in patients with ED is often light-pigmented, thin, dry, brittle, and sparse; eyebrows and/or eyelashes may be sparse or absent.86–88 Congenital hair shafts abnormalities such as trichorrhexis nodosa, pili torti, pili canaliculi, and trichothiodystrophy were described.89
Congenital alacrima
Published in Orbit, 2022
Zhenyang Zhao, Richard C. Allen
Ectodermal dysplasia is a constellation of genetic disorders affecting tissues from ectodermal origin. According to the National Foundation for Ectodermal Dysplasias, more than 180 distinct types of ectodermal dysplasia have been reported in the literature. Among these, X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type, followed by Ectrodactyly–ectodermal dysplasia–clefting syndrome (EEC) and Ankyloblepharon–ectodermal dysplasia–clefting syndrome (AEC). The first report of alacrima in the English literature described two male cousins with HED presenting with absence of tears, hypotrichosis, hypohidria and hypodontia. Although dry eye symptoms exist in over 90% of the patients with HED,26 true alacrima is only confirmed in 8.3% of the patients from Keklikci’s series by Schirmer’s test.27 Prominent dry eye symptoms are attributed to partial or complete meibomian gland agenesis, which is observed in all patients.26 Pannus, and corneal opacities are found later in life under a joint mechanism of tear film instability and limbal stem cell defects.27 Other ocular features include periorbital hyperpigmentation, eyebrow anomalies and lacrimal duct anomalies.
Hypohidrotic ectodermal dysplasia: a case report
Published in Orbit, 2020
Ectodermal dysplasia (ED) is a group of heterogeneous genetic disorders characterized by dysplasia of the ectodermal tissues, such as the skin, hair, nails, teeth, and sweat glands.1 Several types of ED have been described in the literature.2 It is broadly categorized into two types based on the secretions of sweat glands: hypohidrotic/anhidrotic (Christ-Siemens-Touraine or Weech syndrome) and hidrotic ED (Clouston syndrome).3 Hypohidrotic ED (HED) is the most common form of ED, characterized by hypohidrosis (or anhidrosis), hypotrichosis, hypodontia, and distinct facial features.4 The ocular tissues of ectodermal origin may be affected in HED. The most common ocular manifestations of HED are dry eye, madarosis, ectropion, alterations in the meibomian glands, abnormalities in the nasolacrimal duct (NLD), and infantile glaucoma.5
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)
Published in Neuro-Ophthalmology, 2019
Beena Suresh, Vaishnavi Reddy, Ingo Kurth, Sujatha Jagadeesh
TM is the second child of a nonconsanguineous couple. He was brought to us at 10 months for evaluation of suspected ectodermal dysplasia. TM was a healthy boy born at term by LSCS with a birth weight of 3 kg with a good birth cry. On day three of life neonate had refusal of feeds, high temperature and lethargy. He was treated for fever and discharged on day nine of life. Subsequently his milestones and development were age appropriate. Child has recurrent respiratory infections, recurrent corneal ulcers and several febrile episodes. He was also noted to have decreased sweating and skin biopsy from scalp was done elsewhere which revealed small adnexal glands and absence of sebaceous glands. Hair follicles contained small hair shafts. Hence the diagnosis of anhidrotic ectodermal dysplasia was reported.