Results 21 to 30 of about 2,089 (158)

Ectodermal dysplasia: Report of two cases in a family and literature review

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi, Dheeraj Voulligonda, Bharadwaj Bhogavaram, P Krishnanjaneya Reddy   +3 more
doaj   +1 more source

Early prosthodontic intervention in a child patient of hypohidrotic ectodermal dysplasia

SRM Journal of Research in Dental Sciences, 2013
The ectodermal dysplasias (EDs) comprise a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of two or more tissues derived from embryonic ectoderm.
Culatur Thulasingam, Meenakshi Akshayalingam, Pallavi Vashisht   +2 more
doaj   +1 more source

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants

Nature Communications, 2023
EDA variants are associated with X-linked hypohidrotic dysplasia. Here, the authors report the crystal structure of the human EDA-EDAR complex, reveal the important role of this complex in ectodermal development and uncover the structural mechanism of ...
Kang Yu, Chenhui Huang, Futang Wan, Cailing Jiang, Juan Chen, Xiuping Li, Feng Wang, Jian Wu, Ming Lei, Yiqun Wu   +9 more
doaj   +1 more source

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia [PDF]

, 2007
We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis.
Nassib, N, Gharbi, H, Kaissi, A A, Safi, H, Ghachem, M B, Djnziri, M, Chehida, F B   +6 more
core   +1 more source

Hypohidrotic ectodermal dysplasia and finger clubbing – An unknown association

Asian Journal of Medical Sciences, 2014
The ectodermal dysplasias are heterogenous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail and sweat gland.
Amit Sarkar
doaj   +1 more source

First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

Italian Journal of Pediatrics, 2021
Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease.
Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello   +5 more
doaj   +1 more source

Rehabilitation of ectodermal dysplasia patient with a telescopic denture in the maxilla and mandibular implant assisted overdenture: A case report

Clinical Case Reports, 2021
Hypohidrotic ectodermal dysplasia is a heritable disease, characterized by hypodontia, hypotrichosis, and anhidrosis. This clinical report demonstrates prosthetic rehabilitation of a patient complaining of impaired mastication and the odd appearance of ...
Heba Alajami, Jamal Saker
doaj   +1 more source

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia [PDF]

, 2005
We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis.
Hatem Safi1Mrad Djnziri, Ali Al Kaissi, Farid Ben Chehida, Maher Ben Ghachem, Hassan Gharbi, Nabil Nassib   +5 more
core   +2 more sources

Prosthetic Rehabilitation of a Three-year-old Child with Ectodermal Dysplasia: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Ectodermal Dysplasia (ED) is a rare congenital syndrome that exhibits defects in two or more ectodermal tissues. Dental manifestations include delayed eruption of permanent dentition, complete absence of teeth or absence of a few teeth, and peg-shaped ...
Yashshwini Shroff, Brahmananda Dutta, S Bhuvaneshwari, Varsha Sharma   +3 more
doaj   +1 more source

A first case report of hypohidrotic ectodermal dysplasia from Oman

Clinical Case Reports, 2020
This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.
Musallam Al‐Araimi, Nishath Hamza, Aliya Al Hosni, Hiba Al Mazrooey   +3 more
doaj   +1 more source