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Definition

A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.

Acronym

FFDD3

Synonyms

Bitemporal forceps marks syndrome
Facial ectodermal dysplasia
FFDD type II
FFDD type III
Focal facial dermal dysplasia type II
Focal facial dermal dysplasia type III
Setleis syndrome

Keywords

Ectodermal dysplasia

 
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