Results 41 to 50 of about 635 (130)

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

Contemporary Clinical Dentistry, 2012
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature.
P K Shivaprakash, Hrishikesh V Joshi, Hina Noorani, Venugopal Reddy   +3 more
doaj   +1 more source

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

Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series

Oral Diseases, EarlyView.
ABSTRACT Background Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder primarily affecting the mucocutaneous and hematopoietic systems. Classically, it presents with the ectodermal triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia.
Yehuda Zadik, Ori Finfter, Tevel Amiel, Amina Massarwa, Refael Cohen, Jawad Abu Tair, Anna Novikov, Polina Stepensky, Irina Zaidman, Ehud Even‐Or   +9 more
wiley   +1 more source

Growth Assessment in Children Under 12 Years With Moderate‐to‐Severe Atopic Dermatitis Included in the PEDISTAD Observational Registry

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objective The multifactorial disease burden of moderate‐to‐severe atopic dermatitis (AD) may affect children's growth. We report height, weight, and body mass index (BMI) of children under 12 years old with moderate‐to‐severe AD in comparison to the general population.
Amy S. Paller, Alan D. Irvine, Eulalia Baselga, Marlies de Graaf, Elaine C. Siegfried, Michael J. Cork, Michele Ramien, Lawrence F. Eichenfield, Bryan Adams, Rajan Gupta, Marius Ardeleanu, Annie Zhang   +11 more
wiley   +1 more source

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2014
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in
Reema Sharma Dhar, Amitava Bora
doaj   +1 more source

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

Molecular Genetics and Metabolism Reports, 2021
Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere, Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina   +14 more
doaj   +1 more source

Loose Anagen Hair Syndrome: A Scoping Review

Pediatric Dermatology, EarlyView.
ABSTRACT Loose anagen hair syndrome (LAHS) is a rare, non‐scarring alopecia that may occur sporadically or follow autosomal dominant inheritance. The objective of this study was to review the etiology, clinical presentation, diagnostic features (including trichoscopy, trichogram, and microscopy), natural history, and treatment outcomes of LAHS.
Romy Shenderey, Hailey Land, Eric McMullen, Daniela Giansante, Grace Xiong, Katya Peri, Raquel Ocvirk, Justin Trasolini, Laurence Mainville, Shireen Dumont, Narachai Julanon, Cathryn Sibbald, Jeffrey Donovan   +12 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  

Somatic Mosaic AXIN2‐associated Colonic Polyposis Predominantly Involving the Proximal Colon: A Case Report

DEN Open, Volume 7, Issue 1, April 2027.
ABSTRACT Colonic adenomatous polyposis is most commonly caused by germline pathogenic variants in the APC gene; however, recent genetic studies have identified patients without APC mutations. AXIN2‐associated colonic polyposis is a rare condition related to dysregulation of the Wnt/β‐catenin signaling pathway. Most reported cases have involved germline
Takashi Murakami, Masami Arai, Hidetaka Eguchi, Yuka Hirasawa, Wataru Hata, Yudai Otsuki, Tomonori Yamauchi, Eiji Kamba, Takashi Yao, Akihito Nagahara   +9 more
wiley   +1 more source

Ectodermal Dysplasias Revisited [PDF]

Acta geneticae medicae et gemellologiae, 1977
This paper presents a historical view of the development of the concept of ectodermal dysplasia, analyses five current “definitions” of the group, and classifies 52-57 ectodermal dysplasias into subgroups on the basis of criteria developed by the Author.
openaire   +2 more sources