Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias

Preferred term

Focal Facial Dermal Dysplasias  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Dysplasia, Facial Ectodermal
  • Ectodermal Dysplasia, Facial
  • Ectodermal Dysplasias, Facial
  • Facial Ectodermal Dysplasia
  • Facial Ectodermal Dysplasias

Scope note

  • A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4.

History note

  • 2022

In other languages

  • paikalliset kasvojen ihon dysplasiat

    Finnish

  • paikallinen kasvojen ihon dysplasia
  • paikallinen kasvojen ihon kasvuhäiriö
  • paikallinen kasvojen ihon kehityshäiriö
  • paikalliset kasvojen ihodysplasiat
  • paikalliset kasvojen ihon erilaistumishäiriöt
  • paikalliset kasvojen ihon kasvuhäiriöt
  • paikalliset kasvojen ihon kehityshäiriöt
  • Familjär fokal facial dermal dysplasi

    Swedish

URI

http://www.yso.fi/onto/mesh/D000090303

Download this concept:

RDF/XML TURTLE JSON-LD Created 7/9/21, last modified 5/10/21