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 6 publications over 3 distinct years, with a maximum of 3 publications in 2008

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

Year	Major Topic	Total
2008	3	3
2012	1	1
2013	2	2

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

Johnston AM, Niemela J, Rosenzweig SD, Fried AJ, Delmonte OM, Fleisher TA, Kuehn H. A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID). J Clin Immunol. 2016 08; 36(6):541-3.

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Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 2013 Nov; 161A(11):2762-76.

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Deutsch CK, Hreczko T, Holmes LB. Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. Birth Defects Res A Clin Mol Teratol. 2013 Mar; 97(3):166-9.

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Nwosu BU, Adhami S, Rogol AD. Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. J Pediatr Endocrinol Metab. 2012; 25(3-4):357-61.

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Pai SY, Levy O, Jabara HH, Glickman JN, Stoler-Barak L, Sachs J, Nurko S, Orange JS, Geha RS. Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency. J Allergy Clin Immunol. 2008 Dec; 122(6):1113-1118.e1.

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Dr?gem?ller C, Karlsson EK, Hyt?nen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K, Leeb T. A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science. 2008 Sep 12; 321(5895):1462.

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Luengo-Blanco M, Prando C, Bustamante J, Arag?o-Filho WC, Pereira PV, Rehder J, Padden C, Casanova JL, Newburger PE, Condino-Neto A. Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes. Blood. 2008 Aug 15; 112(4):1453-60.

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Duverger O, Lee D, Hassan MQ, Chen SX, Jaisser F, Lian JB, Morasso MI. Molecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome. J Biol Chem. 2008 Jul 18; 283(29):20198-208.

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