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 29 publications over 16 distinct years, with a maximum of 5 publications in 2009

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

Year	Major Topic	Minor Topic	Total
1997	1	0	1
1998	1	0	1
1999	1	0	1
2001	2	0	2
2005	3	0	3
2009	5	0	5
2010	1	0	1
2011	1	0	1
2012	3	0	3
2013	1	0	1
2014	1	0	1
2015	1	0	1
2016	1	0	1
2017	3	0	3
2020	0	2	2
2021	2	0	2

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

Perez CJ, Mecklenburg L, Fernandez A, Cantero M, de Souza TA, Lin K, Dent SYR, Montoliu L, Awgulewitsch A, Benavides F. Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13. Exp Dermatol. 2022 03; 31(3):330-340.

View in: PubMed
Davis MJ, Voller LM, Gonzalez SR, Abu-Ghname A, Davies LW, Bedwell JR, Lee GL, Hunt RD, Phung TL, Buchanan EP. Multidisciplinary management of a previously unreported presentation of severe aplasia cutis congenita. Pediatr Dermatol. 2021 Mar; 38(2):472-476.

View in: PubMed
Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147.

View in: PubMed
Mangels R, Blumenfeld YJ, Homeyer M, Mrazek-Pugh B, Hintz SR, Hudgins L. RASopathies: A significant cause of polyhydramnios? Prenat Diagn. 2021 02; 41(3):362-367.

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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.

View in: PubMed
Ackah RL, Yoeli D, Kueht M, Galván NTN, Cotton RT, Rana A, O'Mahony CA, Goss JA. Orthotopic liver transplantation for Sensenbrenner syndrome. Pediatr Transplant. 2018 02; 22(1).

View in: PubMed
Jones KM, Silfvast-Kaiser A, Leake DR, Diaz LZ, Levy ML. Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. Pediatr Dermatol. 2017 Sep; 34(5):e249-e253.

View in: PubMed
Lara DA, Loar RW, Allen HD. Visual Diagnosis: A Baby with a Scalp Lesion, Rash, and Left-Foot Deformity. Pediatr Rev. 2017 Jun; 38(6):e20-e23.

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Walker GD, Woody M, Orrin E, Mellerio JE, Levy ML. Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. Pediatr Dermatol. 2017 Jan; 34(1):e61-e64.

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Mericli AF, Chen K, Murariu D, Jane JA, Lin KY. Calvarial Regeneration With Use of Acellular Dermal Matrix in Aplasia Cutis Congenita. J Craniofac Surg. 2015 Sep; 26(6):1960-2.

View in: PubMed

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