A novel NEMO/IKBKG mutation identified in a primary immunodeficiency disorder with recurrent atypical mycobacterial infections
Sign Up to like & getrecommendations! Published in 2021 at "JAAD Case Reports"
DOI: 10.1016/j.jdcr.2020.10.019
Abstract: EDA-ID: ectodermal dysplasia and immunodeficiency NEMO: nuclear factor-kB (NF-kB) essential modulator NF-kB: nuclear factor-kB PID: primary immunodeficiency disorder INTRODUCTION Hypomorphicmutations in the IKBKG gene, which encodes nuclear factor-kB (NF-kB) essential modulator (NEMO), on the X… read more here.
Keywords: immunodeficiency; primary immunodeficiency; immunodeficiency disorder; ectodermal dysplasia ... See more keywords
X-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities.
Sign Up to like & getrecommendations! Published in 2019 at "Topics in companion animal medicine"
DOI: 10.1053/j.tcam.2019.03.002
Abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder characterized by abnormalities in ectodermal derivatives such as sweat glands, hair, and teeth. In animals, the highest number of cases has been reported in dogs, which… read more here.
Keywords: ectodermal dysplasia; linked hypohidrotic; hypohidrotic ectodermal; dysplasia general ... See more keywords
Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies
Sign Up to like & getrecommendations! Published in 2019 at "Ocular Immunology and Inflammation"
DOI: 10.1080/09273948.2019.1609526
Abstract: ABSTRACT Ectodermal dysplasia (ED) is a group of several genetic conditions with absence or dysgenesis of at least two ectodermal derivatives: teeth, skin and its appendages including hair, nails, eccrine and sebaceous glands. The most… read more here.
Keywords: anti basement; basement membrane; membrane autoantibodies; membrane ... See more keywords
A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000019244
Abstract: Abstract A mutation in the epithelial morphogen gene ectodysplasin-A1 (EDA1) is responsible for the disorder X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia. XLHED is characterized by impaired development of hair,… read more here.
Keywords: ectodermal dysplasia; linked hypohidrotic; hypohidrotic ectodermal; eda1 ... See more keywords
Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Plastic Surgery"
DOI: 10.1097/sap.0000000000000933
Abstract: Abstract Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well… read more here.
Keywords: patients ectodermal; individualized plastic; dysplasia syndrome; plastic reconstruction ... See more keywords
A case of mosaicism in ectodermal dysplasia–skin fragility syndrome
Sign Up to like & getrecommendations! Published in 2017 at "British Journal of Dermatology"
DOI: 10.1111/bjd.15374
Abstract: DEAR EDITOR, Ectodermal dysplasia–skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene… read more here.
Keywords: mutation; dysplasia skin; skin fragility; skin ... See more keywords
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Dermatology"
DOI: 10.1111/bjd.16276
Abstract: DEAR EDITOR, Pure hair and nail ectodermal dysplasia (PHNED) is an autosomal recessive ectodermal dysplasia (ED) that is characterized by hypotrichosis and nail dystrophy only, without further ectodermal or nonectodermal alterations. To date, homozygous mutations… read more here.
Keywords: pure hair; hair nail; nail ectodermal; dysplasia ... See more keywords
An unusual manifestation of X‐linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma
Sign Up to like & getrecommendations! Published in 2019 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.14096
Abstract: We present a case of genetically confirmed X-linked ectodermal dysplasia (XHED) with the unusual clinical manifestation of palmoplantar keratoderma. Hypohidrotic ectodermal dysplasia (HED, also known as Christ-Siemens-Tourraine syndrome) is characterised by the triad of hypodontia,… read more here.
Keywords: manifestation; palmoplantar keratoderma; ectodermal dysplasia;
Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Implant Dentistry and Related Research"
DOI: 10.1111/cid.12731
Abstract: Abstract Background Abnormalities of some facial bones derived from the ectomesenchyme have been found in ectodermal dysplasia (ED) patients, but the characteristics of the zygoma are unknown. Purpose Comparison between ED patients and normal individuals… read more here.
Keywords: patients normal; dysplasia patients; patients oligodontia; ectodermal dysplasia ... See more keywords
Schopf‐Schulz‐Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Dermatology"
DOI: 10.1111/ijd.14616
Abstract: A 58-year-old female of German and English ancestry, born of a nonconsanguineous marriage, presented with bilateral eyelid cysts (Fig. 1), palmoplantar keratoderma (Fig. 2), nail dystrophy, and hypodontia (Fig. S1). She was diagnosed with an… read more here.
Keywords: schopf schulz; passarge syndrome; schulz passarge; age ... See more keywords
Reproductive decision‐making by women with X‐linked hypohidrotic ectodermal dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.18267
Abstract: 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 recombinant EDA1. read more here.
Keywords: ectodermal dysplasia; decision making; hypohidrotic ectodermal; linked hypohidrotic ... See more keywords