Dental Management of Hypohydrotic Ectodermal Dysplasia: A Case Report [PDF]
Journal of Mashhad Dental School, 2020 Introduction: Ectodermal dysplasia is a genetic rare disease, consisting of a group of abnormalities which are the results of the abnormal development of two or more embryonic ectoderm derivatives, such as the skin, hair, nail, sweat gland, tooth, and ...
Koorosh teymoornezhad +2 more
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Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function [PDF]
, 2015 BACKGROUND: Cornea plana (CNA) is a hereditary congenital abnormality of the cornea characterized by reduced corneal curvature, extreme hypermetropia, corneal clouding and hazy corneal limbus.
Bertelsen, Birgitte +6 more
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Hypohydrotic ectodermal dysplasia: A rare case series
Journal of Pediatric Critical Care, 2018 Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The
Manisha Goyal +3 more
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Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities [PDF]
, 2018 Hallermann-Streiff syndrome is a rare congenital disorder that is characterized by malformations of the craniofacial region with ocular abnormalities. Some ophthalmic signs can be observed in early age and some in adulthood.
Bausz Mária +4 more
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X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle
Genetics Selection Evolution, 2003 Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle.
Drögemüller Cord +2 more
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Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report [PDF]
, 2015 Introduction: Ectodermal dysplasia (ED) is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin.
Bajraktarova, B. +6 more
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Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. [PDF]
, 2016 IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair.
Arno, G +11 more
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
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Monilethrix: A rare case diagnosed by dermoscopy
Indian Journal of Paediatric Dermatology, 2020 Monilethrix is a rare genodermatosis characterized by hair shaft dysplasia, which is responsible for hypotrichosis. We present the case of a 2-year-old female, with involvement of the scalp, eyebrows, and eyelashes, in whom dermoscopy enabled a rapid ...
Aditya Rajendra Holani +3 more
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Hallermann-Streiff syndrome - Clinical and prognostic considerations [PDF]
, 1970 A patient with the Hallermann-Streiff syndrome showed significant findings, including demonstration of decreased thoracic compliance and a marked response of growth hormone to arginine stimulation. No metabolic or chromosomal defect could be demonstrated
Bass, J. W., Steele, R. W.
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