Results 51 to 60 of about 6,864 (183)

Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab

Journal of Cutaneous Immunology and Allergy
Hypohidrotic ectodermal dysplasia (HED) is a rare disease. Patients with HED present with sparse hair on the head, dysplastic teeth and anhidrosis since childhood, along with atopic dermatitis-like skin manifestations.
Eri Uchiyama, Kiminobu Takeda, Hiroto Ono, Akira Shimizu, S. Togi, Hiroki Ura, Y. Niida   +6 more
semanticscholar   +1 more source

Hypohidrotic ectodermal dysplasia- A case series demonstrating indistinguishable phenotypes produced by autosomal recessive and x-linked forms

IP Indian Journal of Clinical and Experimental Dermatology, 2022
Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type of ED.
Sushitha Votturu, Swarna Kumar Matavalum, Vijaya Mohan Rao Avisa, Navyatha Chamarthi, P. Gurijala   +4 more
semanticscholar   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Hypohidrotic Ectodermal Dysplasia caused by an intragenic duplication in EDAR.

European Journal of Medical Genetics
Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5,000-10,000 persons. In 10-15% the disease is caused by pathogenic variants in EDAR, and most of
L. Graversen, Mette Sommerlund, Casper Kruse, H. Gjørup, P. A. Gregersen, Uffe Birk Jensen, Jenny Blechingberg   +6 more
semanticscholar   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Recreating the missing smile: A case report on ectodermal dysplasia

SRM Journal of Research in Dental Sciences, 2012
Ectodermal dysplasia syndrome is a group of hereditary disorders affecting the structures developing from the ectoderm. More than 150 different types have been described with the most common being the hypohidrotic and the hidrotic types.
R Shakila, L Jeevanandam, S K Jagdish, V R Arun Kumar   +3 more
doaj   +1 more source

X-linked hypohidrotic ectodermal dysplasia management with removable prosthesis in a pediatric patient. Case Report.

Journal of Oral Research, 2022
Introduction: Ectodermal dysplasia is a rare genetic disorder that affects structures derived from ectoderm such as teeth, hair, nails, and sweat glands.
Héctor Rodríguez, José Rodríguez, Maria Acosta de Camargo, Hazel Topel, Miguel Hirschhaut   +4 more
doaj   +1 more source

Appearance Says It All; A Rare Case Of Hypohidrotic Ectodermal Dysplasia.

Journal of Ayub Medical College, 2022
Ectodermal Dysplasia (ED) is a rare genetic condition characterized by the involvement of ectoderm derivatives such as hair, nail, sweat glands, and teeth.
Jasvindar Kumar, Atif A Ahmed, Taimoor Hussain, Daneet Kumar, Taimur Aslams   +4 more
semanticscholar   +1 more source

Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study

Oral Diseases, EarlyView.
ABSTRACT Objective To investigate gingival and periodontal characteristics in Ectodermal dysplasia (ED), focusing on soft‐tissue phenotype, anatomical variations, and periodontal architecture. Materials and Methods Observational clinical study of 11 individuals (16–30 years) with confirmed clinical or genetic ED diagnosis.
Marco Montevecchi, Margherita Giorgia Liguori, Ilaria Santini, Nicola Marco Sforza, Giulia Querzoli, Leoluca Valeriani   +5 more
wiley   +1 more source

X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Laxman Chapagain, Anumesh Dahal, Pooja Gupta, Prajwal Pudasaini, Upama Paudel   +4 more
wiley   +1 more source