Zobrazeno 1 - 10
of 314
pro vyhledávání: '"Anhidrotic ectodermal dysplasia"'
Publikováno v:
Nigerian Journal of Paediatrics, Vol 39, Iss 2, Pp 79-83 (2024)
This report of Hereditary anhidrotic ectodermal dysplasia (HAED), a genetic disorder characterized by abnormalities of structures of ectodermal origin, was informed by its rarity, and its import for survival in a tropical environment. The five-year o
Externí odkaz:
https://doaj.org/article/5a4634a0f3bc49e59e184924323c5593
Autor:
Marina Cerezo-Cayuelas, Amparo Pérez-Silva, Clara Serna-Muñoz, Ascensión Vicente, Yolanda Martínez-Beneyto, Inmaculada Cabello-Malagón, Antonio José Ortiz-Ruiz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Abstract Objective The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation. Methods The sys
Externí odkaz:
https://doaj.org/article/777e31c2611f452e858143f8cdd7e64e
Publikováno v:
Przegląd Dermatologiczny, Vol 107, Iss 6, Pp 557-561 (2021)
Externí odkaz:
https://doaj.org/article/d3d020a05e3047038ff291a2f042168b
Autor:
Satoshi Inaba, Yuta Aizawa, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is
Externí odkaz:
https://doaj.org/article/ba7a0becc59d42b29ea9f3268163bf41
Autor:
Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka
Publikováno v:
Clinical Case Reports, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms. Genetic counseling is crucial for incontinentia pigmenti
Externí odkaz:
https://doaj.org/article/dc3a5ff08f5943cf9853e67df67a804c
Publikováno v:
Žurnal Grodnenskogo Gosudarstvennogo Medicinskogo Universiteta, Vol 16, Iss 4, Pp 493-496 (2018)
The article presents observation of a child aged 4 years with hereditary Krist-Seimens-Turen syndrome combined with atopic dermatitis. The clinical description of the syndrome and modern approaches to treatment have been analyzed.
Externí odkaz:
https://doaj.org/article/d6e0a22bebe94f33b4d66403825aefac
Publikováno v:
Indian Dermatology Online Journal, Vol 7, Iss 5, Pp 393-395 (2016)
Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, onl
Externí odkaz:
https://doaj.org/article/f1b6d09a9b7c4048a287e7c4348ca77b
Autor:
Balasa Adriana, Mihai Larisia, Frecus Corina, Ungureanu Adina, Cuzic Viviana, Pantazi Alexandru Cosmin
Publikováno v:
ARS Medica Tomitana, Vol 26, Iss 2, Pp 58-62 (2020)
Ectodermal dysplasia is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth and sweat glands. Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) is only one of this large a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ca5c7b76e323013769bacc558086eb
https://doi.org/10.2478/arsm-2020-0012
https://doi.org/10.2478/arsm-2020-0012
Publikováno v:
Dermatologica Sinica, Vol 30, Iss 2, Pp 39-42 (2012)
Background: Anhidrotic ectodermal dysplasia (EDA) is a rare genodermatosis that causes developmental defects in ectoderm-derived structures. The clinical triad consists of hypodontia, hypotrichosis, and anhidrosis with other additional symptoms. The
Externí odkaz:
https://doaj.org/article/59fb6b92cdf64f64880a64558a5507b9
Publikováno v:
Allergology International, Vol 61, Iss 2, Pp 207-217 (2012)
Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized according to its various manifestations, which include ectodermal dysplasia, vascular anomalies, osteopetrosis, and diverse immunological abnormalities such as susceptibi
Externí odkaz:
https://doaj.org/article/a096a91d295f4b90b49406330d8ed387