Results 111 to 120 of about 78,340 (172)
Hypohidrotic ectodermal dysplasia: Case reports
Hypohidrotic ectodermal dysplasia is a rare congenital syndrome which affects ectodermal structures. It is usually transmitted as an X-linked recessive trait. Rarely it can be transmitted autosomal recessively. Manifestations of this disorder may include
Özkınay, Ferda +2 more
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Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report [PDF]
Introduction: Ectodermal dysplasia (ED) is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin.
Bajraktarova, B., +13 more
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Ectodermal dysplasia in identical twins
Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands.
Gurkar Haraswarupa Puttaraju +1 more
doaj +1 more source
Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma
We report a 6-year-old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma.
Cuccia A +10 more
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Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype
Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter +5 more
doaj +1 more source
Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands.
Cammarata-Scalisi, Francisco +3 more
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Despite the hair failing, nails thrive…
Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee +1 more
doaj +1 more source
A Cephalometric Investigation of Hypohidrotic Ectodermal Dysplasia [PDF]
Indiana University-Purdue University Indianapolis (IUPUI)The characteristic features of hypohidrotic ectodermal dysplasia were first reported in 1848 by Thurnam.
Harbour, John P.
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EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
Hypohidrotic ectodermal dysplasia is a developmental defect characterized by sparse or absent hair, missing or malformed teeth and defects in eccrine glands. Loss-of-function variants in the X-chromosomal EDA gene have been reported to cause hypohidrotic
Rietmann, Stefan Jonas +5 more
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gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia
We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis.
Lildballe, D. L. +7 more
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