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.

Also Known As:

Focal Facial Dermal Dysplasia, Type II; Brauer Setleis Syndrome; Dysplasia, Facial Ectodermal; Ectodermal Dysplasia, Facial; Ectodermal Dysplasias, Facial; Facial Ectodermal Dysplasia; Syndrome, Brauer; Type 1 FFDD; Type 2 FFDD; Type 3 FFDD; Type 4 FFDD; Type 4 FFDDs; 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; Facial Ectodermal Dysplasias; 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; Hereditary Symmetrical Aplastic Nevi of Temples; Setleis Syndrome

Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cicatrix (Scar)
2.	Facies
3.	Ectrodactyly

Experts

1.	Desnick, Robert J: 3 articles (10/2011 - 08/2010)
2.	Cadilla, Carmen L: 2 articles (10/2011 - 08/2010)
3.	Franco, Hector L: 2 articles (10/2011 - 08/2010)
4.	Chengxiao, Zhao: 1 article (01/2015)
5.	Ze, Yang: 1 article (01/2015)
6.	Bosch-Canto, Vanessa: 1 article (10/2011)
7.	Casasnovas, Jose J: 1 article (10/2011)
8.	Cervantes-Barragán, David E: 1 article (10/2011)
9.	Del-Castillo, Victoria: 1 article (10/2011)
10.	Durán-McKinster, Carola: 1 article (10/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Focal Facial Dermal Dysplasias:

1.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2015 - "Nonsense mutations of Twist2 cause Setleis syndrome. " 10/01/2011 - "Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. " 08/13/2010 - "Homozygous nonsense mutations in TWIST2 cause Setleis syndrome." 10/01/2011 - "Recently, we have reported that two nonsense mutations (c.486C>T [Q119X] and c.324C>T [Q65X]) of the basic helix-loop-helix (bHLH) transcription factor TWIST2 cause Setleis Syndrome. " 10/01/2011 - "Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin."
2.	Basic Helix-Loop-Helix Transcription FactorsIBA 08/30/2023 - "Setleis syndrome (SS) is a rare focal facial dermal dysplasia caused by recessive mutations in the basic helix-loop-helix (bHLH) transcription factor, TWIST2. " 10/01/2011 - "Recently, we have reported that two nonsense mutations (c.486C>T [Q119X] and c.324C>T [Q65X]) of the basic helix-loop-helix (bHLH) transcription factor TWIST2 cause Setleis Syndrome. " 10/01/2011 - "Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin."
3.	Trans-Activators (Trans-Acting Factor)IBA 10/01/2011 - "Here we show that periostin, a cell adhesion protein involved in connective tissue development and maintenance, is down-regulated in Setleis Syndrome patient fibroblast cells and that periostin positively responds to manipulations in TWIST2 levels, suggesting that TWIST2 is a transactivator of periostin. "
4.	Transcription Factors (Transcription Factor)IBA 01/01/2008 - "p63 is a transcription factor homologous to p53 and p73; mutations in this gene have been identified in individuals with several types of developmental abnormalities, including EEC (ectrodactyly, ectodermal dysplasia, facial clefts) syndrome and split-hand/split-foot malformation (SHFM). "
5.	Proteins (Proteins, Gene)FDA Link 10/01/2011 - "Here we show that periostin, a cell adhesion protein involved in connective tissue development and maintenance, is down-regulated in Setleis Syndrome patient fibroblast cells and that periostin positively responds to manipulations in TWIST2 levels, suggesting that TWIST2 is a transactivator of periostin. "
6.	PeriostinIBA 10/01/2011 - "Improper regulation of periostin by the mutant form of TWIST2 could help explain some of the soft tissue abnormalities seen in these patients therefore providing a genotype-phenotype relationship for Setleis Syndrome." 10/01/2011 - "Here we show that periostin, a cell adhesion protein involved in connective tissue development and maintenance, is down-regulated in Setleis Syndrome patient fibroblast cells and that periostin positively responds to manipulations in TWIST2 levels, suggesting that TWIST2 is a transactivator of periostin. " 10/01/2011 - "Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin."

Therapies and Procedures

Surgical Instruments (Clip)

09/01/2002 - "Setleis syndrome is characterized by cutis aplasia or atrophic skin at the temples, which is said to resemble forceps marks. "
09/11/2000 - "Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. "
05/22/1995 - "Setleis syndrome is characterized by bitemporal skin depressions resembling forceps marks, abnormalities of the eyelashes, and "leonine" facial appearance. "
07/01/1992 - "The Setleis syndrome is a rare disorder characterized by predominantly facial findings, including bitemporal skin changes resembling forceps marks. "
10/01/2011 - "The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. "