(FFDD)

Very rare. Group of congenital bitemporal and/or preauricular lesions similar to aplasia cutis (see this term). 

Depending on the topography and the mode of transmission, various forms are distinguished:

-        FFDD type I or Brauer syndrome [MIM 614 974]: bitemporal circular skin scar-like depression or marks of a forceps

-        FFDD type II or Brauer-Setleis syndrome [MIM 136 500]: autosomal dominant transmission of a mutation of the  TWIST2 gene (2q37): bitemporal lesions as in FFDD type I associated with:

·          distichiasis (double row of eyelashes) and/or lack of eyelashes

·          upslanting palpebral fissures

·         thin and wrinkled periorbital skin

·         thick lips with excess of facial skin

·         wide nasal root

·        a leonine facies resulting from the association of these cutaneous lesions

-        FFDD type III or Setleis syndrome [MIM 227 260]: autosomal recessive transmission of a mutation of the TWIST2  gene (2q37); same lesions as in FFDD type II

-        FFDD type IV [MIM 614 974], autosomal dominant or recessive transmission of a mutation of the CYP26C1 gene (10q23); round to oval preauricular lesions usually located along an arc from the top of the ear to the corner of the mouth.

Anesthetic implications: 

none

References:

Updated: August 2019