Focal Facial Dermal Dysplasia Type Ii

Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.

Epidemiology

To date, FFDD2 has been reported in over 20 cases from 8 families.

Clinical description

FFDD2 is characterized by congenital bitemporal hypoplastic scar-like lesions resembling forceps marks with additional facial dysmorphic features. These frequently include low frontal hairline, sparse hair, periorbital puffiness, sparse lateral and upward lifting eyebrows, distichiasis (upper lashes), lack of lower lashes, flattened and/or bulbous nasal tip, and a prominent upper lip (with an inverted ''V'' contour). Occasionally epicanthal folds , linear grooves on forehead, skin dimples lateral to lips and redundant skin are reported. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioral problems, and learning difficulties may be observed.

Etiology

The etiology of FFDD2 is unknown.

Diagnostic methods

FFDD2 is diagnosed in patients bearing autosomal dominant bitemporal scar-like lesions and multiple FFDD2 features.

Differential diagnosis

Differential diagnosis includes focal facial dermal dysplasia type I (FFDD1) and focal facial dermal dysplasia type III (FFDD3; see these terms).

Genetic counseling

FFDD2 is transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance.

Management and treatment

Management comprises opthalmologic evaluations periodically. There is limited experience with plastic surgery for the facial scar-like lesions.

Prognosis

Affected individuals have a normal life span, but involvement of other organ systems may alter the prognosis.