Results 81 to 90 of about 2,707 (208)

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

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, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee   +13 more
wiley   +1 more source

Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report

Delhi Journal of Ophthalmology
Ectrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues.
Rekha R. Khandelwal, Deepa Ajitkumar, Sushil Pande   +2 more
doaj   +1 more source

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, Alice L. Flanagan, Deshan F. Sebaratnam, Yaron Gu   +3 more
wiley   +1 more source

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

Contemporary Clinical Dentistry, 2015
The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked ...
Manisha Goyal, Gaurav Pradhan, Sunita Gupta, Seema Kapoor   +3 more
doaj   +1 more source

Fetal gene therapy

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, William H. Peranteau, Ahad A. Rahim, Ashley K. Boyle, Manju A. Kurian, Paul Gissen, Jerry K. Y. Chan, Anna L. David   +7 more
wiley   +1 more source

Prosthetic rehabilitation with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report

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

Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins [PDF]

, 2012
Autosomal recessive hereditary ectodermal dysplasia (HED) has not been described in sub‑Saharan Africa. It is acknowledged to be rarer than the occasionally reported x‑linked and autosomal dominant variants. We report a pair of Nigerian female twins with
Ajike, SO, Ige, SO, Ogunrinde, GO, Zubair, RO   +3 more
core   +2 more sources

Rehabilitation of Ectodermal Dysplasia Using CAD/CAM Mandibular Complete Denture and Maxillary Overdenture: A Clinical Report

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, Faisal Alzeghaibi, Sahar Alotaibi, Raghad Alamri, Raghad Aljohani, Majed S. Altoman, Mohammed A. Alfaifi, Vlaho Brailo   +7 more
wiley   +1 more source

Nasal Myiasis in a Female with Christ–Siemens–Touraine Syndrome: A Case Report

Journal of Nepal Medical Association
Ectodermal 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, Anju Shah, Dhirendra Yadav, Namita Shrestha   +3 more
doaj   +1 more source

Oral rehabilitation with removable dental prosthesis in a six-year-old patient with hypohidrotic ectodermal dysplasia [PDF]

, 2017
Introduction: Ectodermal dysplasia is an abnormality of the ectoderm and its derivatives, phenotypically expressed in males and genetically inherited from mothers.
Brancher, João Armando, Dalledone, Mariana, de Paiva Bertoli, Fernanda Mara, de Souza, Juliana Feltrin, Losso, Estela Maris, Sponchiado, Ana Paula   +5 more
core   +2 more sources