Focal Facial Dermal Dysplasias [fokální faciální dermální dysplazie]

topical
Terms

bitemporální aplasia cutis congenita
Brauerův syndrom
Brauerův-Setleisův syndrom
faciální ektodermální dysplazie
FFDD typ I
FFDD typ II
FFDD typ III
FFDD typ IV
FFDD1
FFDD2
FFDD3
FFDD4
fokální faciální dermální dysplázie
fokální faciální dermální dysplazie 1
fokální faciální dermální dysplazie 2
fokální faciální dermální dysplazie 3
fokální faciální dermální dysplazie 3, Setleisův typ
fokální faciální dermální dysplazie 4
fokální faciální dermální dysplazie, typ 2
fokální faciální dermální dysplazie, typ 4
fokální faciální dermální dysplazie, typ I
fokální faciální dermální dysplazie, typ II
Setleisův syndrom
vrozená bitemporální aplázie kůže

 

Bitemporal Aplasia Cutis Congenita
Bitemporal Forceps Marks Syndrome
Brauer Syndrome
Brauer-Setleis Syndrome
Facial Ectodermal Dysplasias
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

Definition

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.

DUI
D000090303 MeSH Browser
CUI
M000746045
Previous indexing
Ectodermal Dysplasia (1979-2021)
History note
2022
Public note
2022

C Diseases
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.350.398 Ellis-Van Creveld Syndrome 11
C16.131.077.350.424 Focal Dermal Hypoplasia 6
C16.131.077.350.712 Neurocutaneous Syndromes 29
C16.131.077.350.856 Pachyonychia Congenita 3
C16.131.831 Skin Abnormalities 51
C16.131.831.350 Ectodermal Dysplasia 33
C16.131.831.350.398 Ellis-Van Creveld Syndrome 11
C16.131.831.350.424 Focal Dermal Hypoplasia 6
C16.131.831.350.712 Neurocutaneous Syndromes 29
C16.131.831.350.856 Pachyonychia Congenita 3
C16.320.850.250 Ectodermal Dysplasia 33
C16.320.850.250.398 Ellis-Van Creveld Syndrome 11
C16.320.850.250.424 Focal Dermal Hypoplasia 6
C16.320.850.250.712 Neurocutaneous Syndromes 29
C16.320.850.250.856 Pachyonychia Congenita 3
C17.800 Skin Diseases 2 796
C17.800.804 Skin Abnormalities 51
C17.800.804.350 Ectodermal Dysplasia 33
C17.800.804.350.398 Ellis-Van Creveld Syndrome 11
C17.800.804.350.424 Focal Dermal Hypoplasia 6
C17.800.804.350.712 Neurocutaneous Syndromes 29
C17.800.804.350.856 Pachyonychia Congenita 3
C17.800.827.250 Ectodermal Dysplasia 33
C17.800.827.250.398 Ellis-Van Creveld Syndrome 11
C17.800.827.250.424 Focal Dermal Hypoplasia 6
C17.800.827.250.712 Neurocutaneous Syndromes 29
C17.800.827.250.856 Pachyonychia Congenita 3