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 10 publications over 7 distinct years, with a maximum of 2 publications in 2002 and 2006 and 2013

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

Year	Major Topic	Minor Topic	Total
2002	2	0	2
2005	1	0	1
2006	1	1	2
2012	1	0	1
2013	2	0	2
2014	1	0	1
2018	1	0	1

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

Valentin MN, Solomon BD, Richard G, Ferreira CR, Kirkorian AY. Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. Am J Med Genet A. 2018 11; 176(11):2451-2455.

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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 4; 95(3):308-14.

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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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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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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.

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Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Br?ndum-Nielsen K. Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? Am J Med Genet A. 2006 Dec 15; 140(24):2709-13.

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Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct; 79(4):724-30.

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Kellermayer R, Keller M, Ratajczak P, Richardson E, Harangi F, M?rei E, Melegh B, Kosztol?nyi G, Richard G. Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. Eur J Dermatol. 2005 Mar-Apr; 15(2):75-9.

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Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol. 2002 Sep; 119(3):692-8.

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Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May; 70(5):1341-8.

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