Diseases

Focal Facial Dermal Dysplasias

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

30 entry terms
  • Facial Ectodermal Dysplasias
  • Dysplasia, Facial Ectodermal
  • Ectodermal Dysplasia, Facial
  • Ectodermal Dysplasias, Facial
  • Facial Ectodermal Dysplasia
  • Bitemporal Aplasia Cutis Congenita
  • Bitemporal Forceps Marks Syndrome
  • Brauer Syndrome
  • Brauer-Setleis Syndrome
  • FFDD, Type 1
  • FFDD, Type 2
  • FFDD, Type 3
  • FFDD, Type 4
  • Focal Facial Dermal Dysplasia 1
  • Focal Facial Dermal Dysplasia 2
  • Focal Facial Dermal Dysplasia 3
  • Focal Facial Dermal Dysplasia 4
  • Focal Facial Dermal Dysplasia Type 1
  • Focal Facial Dermal Dysplasia Type 2
  • Focal Facial Dermal Dysplasia Type 4
  • Focal Facial Dermal Dysplasia, Type II
  • Hereditary Symmetrical Aplastic Nevi of Temples
  • Setleis Syndrome
  • Brauer Setleis Syndrome
  • Syndrome, Brauer
  • Type 1 FFDD
  • Type 2 FFDD
  • Type 3 FFDD
  • Type 4 FFDD
  • Type 4 FFDDs

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2022

MeSH Record

Previous Indexing

  • Ectodermal Dysplasia (1979-2021)

MeSH Hierarchy

Tree Numbers

  1. C16w.131w.077w.350w.568w
  2. C16w.131w.831.350w.568w
  3. C16w.320w.850w.250w.568w
  4. C17.800w.804.350w.568w
  5. C17.800w.827w.250w.568w

AMA Style

References

  1. National Library of Medicine. Focal Facial Dermal Dysplasias. Medical Subject Headings (MeSH). 2026. Unique ID D000090303. http://id.nlm.nih.gov/mesh/2026/D000090303
  2. Focal Facial Dermal Dysplasias. In: Wikipedia. https://en.wikipedia.org/wiki/Focal_facial_dermal_dysplasia
  3. Focal Facial Dermal Dysplasias. In: Wikidata. https://www.wikidata.org/wiki/Q5463849