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Focal facial dermal dysplasia(FFDD)

MedGen UID:
445408
•Concept ID:
C2936827
•
Disease or Syndrome
Synonym: FFDD
SNOMED CT: Focal facial dermal dysplasia (789156003); FFDD - focal facial dermal dysplasia (789156003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018363
OMIM® Phenotypic series: PS136500
Orphanet: ORPHA398166

Definition

Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, with characteristics of congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. Four types of FFDD are described. Types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. Types I and IV are infrequently associated with extra-cutaneous anomalies. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal facial dermal dysplasia
Follow this link to review classifications for Focal facial dermal dysplasia in Orphanet.

Professional guidelines

PubMed

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139

Recent clinical studies

Etiology

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
Oh RY, Chun K, Kowalski PE, Chitayat D
Am J Med Genet A 2023 Jun;191(6):1607-1613. Epub 2023 Mar 21 doi: 10.1002/ajmg.a.63175. PMID: 36942595
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.
Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ
J Hum Genet 2018 Mar;63(3):257-261. Epub 2017 Dec 20 doi: 10.1038/s10038-017-0375-x. PMID: 29263414
Setleis syndrome: genetic and clinical findings in a new case with epilepsy.
Giordano L, Desnick RJ, Molinaro A, Uliana V, Forzano F, Edelmann L, Nazarenko I, Pinelli L, Accorsi P, Faravelli F
Pediatr Neurol 2014 Apr;50(4):389-91. Epub 2013 Dec 14 doi: 10.1016/j.pediatrneurol.2013.12.009. PMID: 24486222
Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar.
Wells JM, Weedon D
Australas J Dermatol 2001 May;42(2):129-31. doi: 10.1046/j.1440-0960.2001.00496.x. PMID: 11309038

Diagnosis

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
Oh RY, Chun K, Kowalski PE, Chitayat D
Am J Med Genet A 2023 Jun;191(6):1607-1613. Epub 2023 Mar 21 doi: 10.1002/ajmg.a.63175. PMID: 36942595
A case of focal facial dermal dysplasia type 4.
Mehrtens SH, Shankar S
Pediatr Dermatol 2019 Jan;36(1):e58-e59. Epub 2018 Dec 18 doi: 10.1111/pde.13730. PMID: 30561078
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.
Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ
J Hum Genet 2018 Mar;63(3):257-261. Epub 2017 Dec 20 doi: 10.1038/s10038-017-0375-x. PMID: 29263414
Focal preauricular dermal dysplasia in a newborn.
Coughlin CC, Dunbar SW, Bayliss SJ, Berk DR
Pediatr Dermatol 2013 Nov-Dec;30(6):e259-60. Epub 2012 Oct 29 doi: 10.1111/pde.12009. PMID: 23106109
Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita.
Magid ML, Prendiville JS, Esterly NB
J Am Acad Dermatol 1988 May;18(5 Pt 2):1203-7. doi: 10.1016/s0190-9622(88)70125-5. PMID: 3372784

Prognosis

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.
Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ
J Hum Genet 2018 Mar;63(3):257-261. Epub 2017 Dec 20 doi: 10.1038/s10038-017-0375-x. PMID: 29263414
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ
Hum Mol Genet 2013 Feb 15;22(4):696-703. Epub 2012 Nov 16 doi: 10.1093/hmg/dds477. PMID: 23161670Free PMC Article
Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar.
Wells JM, Weedon D
Australas J Dermatol 2001 May;42(2):129-31. doi: 10.1046/j.1440-0960.2001.00496.x. PMID: 11309038

Clinical prediction guides

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.
Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ
J Hum Genet 2018 Mar;63(3):257-261. Epub 2017 Dec 20 doi: 10.1038/s10038-017-0375-x. PMID: 29263414
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ
Hum Mol Genet 2013 Feb 15;22(4):696-703. Epub 2012 Nov 16 doi: 10.1093/hmg/dds477. PMID: 23161670Free PMC Article

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