 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.
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
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| MeSH Number(s) |
C16.131.077.350 C16.131.831.350 C16.320.850.250 C17.800.804.350 C17.800.827.250
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| 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
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
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Below are MeSH descriptors whose meaning is more general than "Ectodermal Dysplasia".
Below are MeSH descriptors whose meaning is more specific than "Ectodermal Dysplasia".
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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 2 | 0 | 2 | | 2005 | 1 | 0 | 1 | | 2007 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2009 | 2 | 0 | 2 | | 2010 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2022 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Ectodermal Dysplasia" by people in Profiles.
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Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. The heart in RASopathies. Am J Med Genet C Semin Med Genet. 2022 12; 190(4):440-451.
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Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ, Mathur AN. Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review. Pediatr Dermatol. 2022 Jan; 39(1):84-90.
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Camors EM, Purevjav E, Jefferies JL, Saffitz JE, Gong N, Ryan TD, Lucky AW, Taylor MD, Sullivan LM, Mestroni L, Towbin JA. Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex With Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy. Circ Genom Precis Med. 2020 04; 13(2):e002800.
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Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI. Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. Am J Med Genet A. 2019 03; 179(3):442-447.
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Dinella JD, Chen J, Webb S, Siegfried E, Bree AF, Lakshmanachetty S, Balaiya V, Koster MI, Koch PJ. A Human Stem Cell-Based System to Study?the?Role of TP63 Mutations in Ectodermal Dysplasias. J Invest Dermatol. 2018 07; 138(7):1662-1665.
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Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J Allergy Clin Immunol. 2018 03; 141(3):1060-1073.e3.
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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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Steen AJ, Shin JH, Pace NC, Edgar M, Clay MR, Linos K, Barton DT, Mann JA. Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. Pediatr Dermatol. 2016 Sep; 33(5):e267-9.
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Bourque S, Preloger E. Extensive Aplasia Cutis Congenita with Associated Vanishing Twin Syndrome. J Pediatr. 2015 Sep; 167(3):772.e1.
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Goldsmith T, Eytan O, Magal L, Solomon M, Israeli S, Warshauer E, Grafi-Cohen M, Aberdam D, van Bokhoven H, Zhou H, Sarig O, Sprecher E, Nousbeck J. A mutation in TP63 causing a mild ectodermal dysplasia phenotype. J Invest Dermatol. 2014 Aug; 134(8):2277-2280.
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