Ectodermal Dysplasia

"Ectodermal Dysplasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.

Descriptor ID	D004476
MeSH Number(s)	C16.131.077.350 C16.131.831.350 C16.320.850.250 C17.800.804.350 C17.800.827.250
Concept/Terms	Ectodermal Dysplasia Ectodermal Dysplasia Dysplasia, Ectodermal Dysplasias, Ectodermal Ectodermal Dysplasias Ectodermal Defect, Congenital Congenital Ectodermal Defect Congenital Ectodermal Defects Defects, Congenital Ectodermal Ectodermal Defects, Congenital Defect, Congenital Ectodermal Aplasia Cutis Congenita Aplasia Cutis Congenita Aplasia Cutis Congenita, Nonsyndromic Hidrotic Ectodermal Dysplasia Hidrotic Ectodermal Dysplasia Dysplasia, Hidrotic Ectodermal Dysplasias, Hidrotic Ectodermal Hidrotic Ectodermal Dysplasias Hydrotic Ectodermal Dysplasia Dysplasia, Hydrotic Ectodermal Dysplasias, Hydrotic Ectodermal Ectodermal Dysplasia, Hydrotic Ectodermal Dysplasias, Hydrotic Hydrotic Ectodermal Dysplasias Ectodermal Dysplasia, Hidrotic Clouston Hidrotic Ectodermal Dysplasia Hidrotic Ectodermal Dysplasia, Autosomal Dominant Clouston Syndrome Syndrome, Clouston Ectodermal Dysplasia 2, Hidrotic Autosomal Dominant Hidrotic Ectodermal Dysplasia Clouston's Hidrotic Ectodermal Dysplasia Clouston's Syndrome Cloustons Syndrome Syndrome, Clouston's Ectodermal Dysplasia, Hidrotic, Autosomal Dominant Anhidrotic Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasias Dysplasia, Anhidrotic Ectodermal Dysplasias, Anhidrotic Ectodermal Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasias, Anhidrotic Ectodermal Dysplasia Anhidrotic Anhidrotic, Ectodermal Dysplasia Anhidrotics, Ectodermal Dysplasia Dysplasia Anhidrotic, Ectodermal Dysplasia Anhidrotics, Ectodermal Ectodermal Dysplasia, Anhydrotic Anhydrotic Ectodermal Dysplasia Anhydrotic Ectodermal Dysplasias Dysplasia, Anhydrotic Ectodermal Dysplasias, Anhydrotic Ectodermal Ectodermal Dysplasias, Anhydrotic

Below are MeSH descriptors whose meaning is more general than "Ectodermal Dysplasia".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Ectodermal Dysplasia [C16.131.077.350]
Skin Abnormalities [C16.131.831]
Ectodermal Dysplasia [C16.131.831.350]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Ectodermal Dysplasia [C16.320.850.250]
Skin and Connective Tissue Diseases [C17]
Skin Diseases [C17.800]
Skin Abnormalities [C17.800.804]
Ectodermal Dysplasia [C17.800.804.350]
Skin Diseases, Genetic [C17.800.827]
Ectodermal Dysplasia [C17.800.827.250]

Below are MeSH descriptors whose meaning is related to "Ectodermal Dysplasia".

Below are MeSH descriptors whose meaning is more specific than "Ectodermal Dysplasia".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Ectodermal Dysplasia" by people in this website by year, and whether "Ectodermal Dysplasia" was a major or minor topic of these publications.

Bar chart showing 55 publications over 21 distinct years, with a maximum of 8 publications in 2011

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1997	2	0	2
1999	3	1	4
2000	6	0	6
2001	2	0	2
2002	5	0	5
2003	1	0	1
2004	1	0	1
2005	5	0	5
2006	3	0	3
2008	3	0	3
2009	1	0	1
2010	2	1	3
2011	5	3	8
2012	3	0	3
2013	1	0	1
2014	1	0	1
2015	1	0	1
2016	1	0	1
2017	2	0	2
2020	1	0	1
2021	1	0	1

Below are the most recent publications written about "Ectodermal Dysplasia" by people in Profiles.

Doolan BJ, Onoufriadis A, Kantaputra P, McGrath JA. WNT10A, dermatology and dentistry. Br J Dermatol. 2021 12; 185(6):1105-1111.

View in: PubMed
Doolan BJ, Gomaa NS, Fawzy MM, Dogheim NN, Liu L, Mellerio JE, Onoufriadis A, McGrath JA. Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. Exp Dermatol. 2020 06; 29(6):520-530.

View in: PubMed
Smith FJD, McLean WHI. Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism. J Dermatol. 2017 12; 44(12):e312.

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Xu M, Horrell J, Snitow M, Cui J, Gochnauer H, Syrett CM, Kallish S, Seykora JT, Liu F, Gaillard D, Katz JP, Kaestner KH, Levin B, Mansfield C, Douglas JE, Cowart BJ, Tordoff M, Liu F, Zhu X, Barlow LA, Rubin AI, McGrath JA, Morrisey EE, Chu EY, Millar SE. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. Nat Commun. 2017 06 07; 8:15397.

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Hsu CK, Liu L, Can PK, Kocat?rk E, McMillan JR, G?ng?r S, H?rdogan ?, Sargan A, Degirmentepe EN, Lee JY, Simpson MA, McGrath JA. Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. J Dermatol Sci. 2016 Nov; 84(2):210-212.

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Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). Turk J Pediatr. 2015 Jul-Aug; 57(4):385-387.

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Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 04; 95(3):308-14.

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Gripp KW, Ennis S, Napoli J. Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. Am J Med Genet A. 2013 May; 161A(5):1058-63.

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Granger RH, Marshman G, Liu L, McGrath JA. Late diagnosis of ectodermal dysplasia syndrome. Australas J Dermatol. 2013 Feb; 54(1):46-8.

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Felipe AF, Abazari A, Hammersmith KM, Rapuano CJ, Nagra PK, Peiro BM. Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review. Int Ophthalmol. 2012 Oct; 32(5):475-80.

View in: PubMed

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