Results 71 to 80 of about 1,001 (147)
Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.Patients with congenital insensitivity to pain with anhidrosis typically present with cellulitis in their fingers and toes, often leading to amputation due to self‐mutilating behavior. Osteodystrophy can result from a history of recurrent infections and surgeries.
Jun Hee Cho +13 more
wiley +1 more source
Ectodermal dysplasia: A report of two cases
Journal of Craniomaxillofacial Research, 2017 Introduction: Ectodermal dysplasia (ED) is a group of syndromes and disorders in the human body characterized by structural anomalies in the ectoderm and often associated with hair, teeth and skin abnormalities.
Mozhgan Kazemian +2 more
doaj
Biologics for inherited disorders of keratinisation: A systematic review
Australasian Journal of Dermatology, Volume 65, Issue 2, Page 185-214, March 2024.Abstract Background/Objectives Recent literature highlights the potential of biologics in the management of inherited disorders of keratinisation. In this study, we conducted a systematic review of existing literature on treatment outcomes of inherited keratinisation disorders treated with biologics.
Michelle K. Y. Chen +3 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 192-210, January 2024.Abstract Fetal gene therapy was first proposed toward the end of the 1990s when the field of gene therapy was, to quote the Gartner hype cycle, at its “peak of inflated expectations.” Gene therapy was still an immature field but over the ensuing decade, it matured and is now a clinical and market reality. The trajectory of treatment for several genetic
Simon N. Waddington +7 more
wiley +1 more source
Case Reports in Dentistry, Volume 2024, Issue 1, 2024.Ectodermal dysplasia is a genetic disorder characterized by the abnormal development of two or more ectodermally driven structures, leading to various clinical manifestations such as sparse hair, dry skin, and hypodontia or anodontia. The absence of teeth significantly impacts the quality of life for individuals affected by this condition. This article
Hatem Alqarni +7 more
wiley +1 more source
Journal of Medical Case Reports, 2019 Background Ectodermal dysplasia is a rare genetic disorder that affects ectodermally derived structures, including teeth, nails, hair, and sweat glands.
Reema AlNuaimi, Mohammad Mansoor
doaj +1 more source
Involvement of the ocular system in hypohidrotic ectodermal dysplasia [PDF]
Head & Face Medicine, 2012 X-linked hypohidrotic ectodermal dyplasia (XLHED) is the most common form of ectodermal dysplasia. It often presents with ocular symptoms, already in early childhood. Multiple ophthalmological tests are available, but in early childhood only tests of lower invasiveness can be applied.
openaire +3 more sources
Nasal Myiasis in a Female with Christ–Siemens–Touraine Syndrome: A Case Report
Journal of Nepal Medical AssociationEctodermal dysplasia is a rare disease that belongs to a diverse group of inherited monogenic disorders involving defects in one or more ectodermally or mesodermally derived tissues.
Leison Maharjan +3 more
doaj +1 more source
Thinking outside the box: Using homology models and interactive PowerPoints for active learning
Journal of Dental Education, Volume 88, Issue S3, Page 1902-1906, December 2024.
Nazlee Sharmin +3 more
wiley +1 more source
Prosthetic Rehabilitation of a Three-year-old Child with Ectodermal Dysplasia: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchEctodermal 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 +3 more
doaj +1 more source