Results 41 to 50 of about 8,171 (177)

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 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, Farnoosh Razmara, Nafiseh Ghadiri Moghadam   +2 more
doaj  

Characterisation of human hair follicle development

Journal of Anatomy, EarlyView.
Schematic of hair follicle development in human skin. Hair follicle primordia of similar sizes, but different densities, are laid out across the skin. The distinction between terminal and vellus hair sites is not obvious at early stages of hair follicle development.
Zoe R. Sudderick, James D. Glover, Cameron Batho‐Samblas, Barbara Bo‐Ju Shih, Denis J. Headon   +4 more
wiley   +1 more source

Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: Case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008
Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues.
Kaul S, Reddy R
doaj  

Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

Case Reports in Dentistry, 2012
Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands.
Sepideh Mokhtari, Saeedeh Mokhtari, Ali Lotfi   +2 more
doaj   +1 more source

Loving ACTion: An evaluation of an ACT‐based audio podcast intervention focussed on romantic and intimate relationships for adults with visible differences

British Journal of Health Psychology, Volume 31, Issue 3, September 2026.
Abstract Objectives Research suggests that some adults with visible differences may experience challenges related to romantic relationships, sex and physical intimacy. Loving ACTion is a self‐guided Acceptance and Commitment Therapy (ACT)‐based intervention delivered as an audio podcast series, co‐produced with adults with visible differences and ...
Maia Thornton, Emma Waite, Paul White, Anna Zarola, Yara Vizinho, Alex Clarke, Diana Harcourt   +6 more
wiley   +1 more source

Prosthodontic Rehabilitation Using Implant-supported Fixed Prostheses in a Young Adult with Ectodermal Dysplasia

King Khalid University Journal of Health Sciences
Ectodermal dysplasia is a rare hereditary disorder characterized by the abnormal development of ectodermal tissues. Hidrotic and hypohidrotic ectodermal dysplasia are the two most common types of the disease.
Lujain I. N. Aldosari
doaj   +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

Ectodermal dysplasia

Journal of Indian Academy of Oral Medicine and Radiology, 2009
Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo, Anita Munde, Manjula Hebbale, Manjiri Joshi   +3 more
doaj   +1 more source

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up

Case Reports in Dentistry, 2020
Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that
Anamika Bharati, Saumya Navit, Suleman Abbas Khan, Seema Jabeen, Nishi Grover, Meenakshi Upadhyay   +5 more
doaj   +1 more source