Results 11 to 20 of about 737 (185)
An Insight into the Genesis of Hypohidrotic Ectodermal Dysplasia in a Case Report [PDF]
Case Reports in Dentistry, Volume 2012, Issue 1, 2012., 2012 Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is estimated to affect at least one in 17000 people worldwide. We report a rare case of HED in a 14-year-old
Dhanapal, Raghu +4 more
core +2 more sources
Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases [PDF]
Dermatology Online Journal, 2013 Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia.
Vasconcelos Carvalho, Marianne +6 more
openaire +6 more sources
Journal of Dermatological TreatmentPurpose We aim to explore a potential treatment strategy for hair loss.Materials and methods A male 6-year-old child was diagnosed with hidrotic ectodermal dysplasia 2 (HED2) caused by GJB6 (p.G11R) mutations.
Shiyi Zhong +5 more
doaj +3 more sources
GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family. [PDF]
Int J Dermatol, 2019 International Journal of Dermatology, Volume 58, Issue 12, Page 1462-1465, December 2019.
Shi X +7 more
europepmc +2 more sources
GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]
Anim GenetAbstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ +3 more
europepmc +2 more sources
Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management. [PDF]
Case Rep DentIntroduction Ellis–van Creveld (EVC) syndrome, also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder that affects multiple embryonic tissues. It is primarily caused by mutations in the EVC gene. Patient Information We report an 11‐year‐old male diagnosed with EVC syndrome, who carries a novel homozygous pathogenic mutation ...
Shariati M +3 more
europepmc +2 more sources
Do you know this syndrome? Clouston syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic.
Sarah Sanches +3 more
doaj +2 more sources
Clinical Implant Dentistry and Related Research, Volume 25, Issue 6, Page 1187-1196, December 2023., 2023 Abstract Introduction Hypohidrotic ectodermal dysplasia (HED) patients suffering of oligo‐anodontia require early dental treatment to improve oral functions and reduce social impairment. The aim of this study was to evaluate the skeletal growth, implant and prosthetic survival rate, success, and complications after the rehabilitation with a maxillary ...
Marco Montanari +4 more
wiley +1 more source
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
Molecular Genetics and Metabolism Reports, 2021 Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere +14 more
doaj +1 more source
Case Reports in Dentistry, Volume 2021, Issue 1, 2021., 2021 This case report presents a 19‐year‐old male patient with hypohidrotic ectodermal dysplasia, having a chief complaint of multiple missing teeth. Atraumatic extraction of the teeth with hopeless prognosis was done, and teeth with grade 2 mobility were submerged using cast dowel and coping.
Aryen Kaushik +5 more
wiley +1 more source