Focal facial dermal dysplasia type III

Focal facial dermal dysplasia type III (FFDD III), also known as Setleis syndrome or bitemporal aplasia cutis congenita, is a rare congenital ectodermal dysplasia primarily affecting the skin and facial structures. It is characterized by distinctive bilateral temporal skin lesions that appear as scar-like depressions or puckered areas (aplasia cutis congenita) on the temples, giving a forceps mark-like appearance. These lesions are present at birth and are the hallmark feature of the condition. Additional facial features may include absent or multiple rows of eyelashes (distichiasis) on the upper eyelids, absent eyelashes on the lower lids, a leonine (lion-like) facial appearance, upward-slanting palpebral fissures, a flat and broad nasal bridge, thick and rubbery skin on the face, and chin clefting. Some patients may also exhibit periorbital puffiness and redundant facial skin. The condition is caused by mutations in the TWIST2 gene (also known as DERMO1), which plays an important role in skin and facial development during embryogenesis. Focal facial dermal dysplasia type III primarily affects the integumentary system and craniofacial structures. Intelligence and overall growth are typically normal. There is no specific curative treatment for Setleis syndrome. Management is largely supportive and may include cosmetic or reconstructive surgical procedures to address the temporal skin defects and other facial abnormalities. Ophthalmologic evaluation is recommended to monitor for any eyelid or eyelash-related complications. Genetic counseling is advised for affected families.

Common questions about Focal facial dermal dysplasia type III