Results 61 to 70 of about 78,340 (172)

Hypohidrotic Ectodermal Dysplasia: A Case Report

Post-Graduate Medical Journal of NAMS
Ectodermal dysplasia is a heterogeneous group of inherited disorders that manifests a variety of deformities due to primary defects in the development of two or more tissues derived from embryonic ectoderm involving skin, sweat glands, hair, nails, and ...
Chunauti Bahik, Urbi Ghimire, Pawan Kumar Thada, R. Kumar Yadav, Puja Bhattarai, A. Shrestha   +5 more
semanticscholar   +1 more source

Reproductive decision‐making by women with X‐linked hypohidrotic ectodermal dysplasia

Journal of the European Academy of Dermatology and Venereology, 2022
In X‐linked hypohidrotic ectodermal dysplasia (XLHED), ectodysplasin A1 (EDA1) deficiency results in malformation of hair, teeth and sweat glands. Lack of sweating which can cause life‐threatening hyperthermia is amenable to intrauterine therapy with ...
B. Leo, H. Schneider, J. Hammersen
semanticscholar   +1 more source

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

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
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

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants

Experimental Dermatology, Volume 35, Issue 7, July 2026.
ABSTRACT The diagnosis of an ectodermal dysplasia (ED) is often made by dermatologists. Some of the more than 50 distinct ectodermal dysplasias, however, are still largely unknown and their pathogenesis is poorly understood. Since we recently discovered that variants of the Interferon Regulatory Factor 6 (IRF6) gene IRF6 may cause ED, we have further ...
Holm Schneider, Smail Hadj‐Rabia, Carola Berking, Matthias Weider, Julie Steffann, Ralf J. Rieker, Lina Gölz, Nicolai Peschel   +7 more
wiley   +1 more source

Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Clinical timeline of the reported EDSS1 case, illustrating disease onset, diagnostic milestones, treatment initiation, treatment modifications, and longitudinal response to combined topical minoxidil and tretinoin therapy from infancy through the last follow‐up.
Bana O. Aburajab, Hamza M. A. Ghaith, Nada Ishti, Muawia O. Aburajab   +3 more
wiley   +1 more source

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

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, U. B. Jensen, Jenny Blechingberg   +6 more
semanticscholar   +1 more source

Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]

, 2012
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core  

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