Focal facial dermal dysplasia

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 79133

Definition

Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.

Epidemiology

FFDD1 has been reported in over 80 cases including three large multi- generational families (German, English, Australian) and several sporadic cases.

Clinical description

The bitemporal, rarely unilateral, hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Other very rarely described and usually mild facial dysmorphic features may comprise a low frontal hairline, sparse hair, sparse lateral eyebrows, distichiasis (upper lashes), flattened nasal tip, bulbous nasal tip, prominent upper lip, skin dimples lateral to lips, horizontal chin furrow, vertical chin cleft, and linear grooves on the forehead. Most patients usually have normal intelligence.

Etiology

Etiology is unknown.

Diagnostic methods

Clinical examination reveals bitemporal scars.

Differential diagnosis

Differential diagnosis includes focal facial dermal dysplasia type 2 and 3 (see these terms).

Antenatal diagnosis

Prenatal diagnosis is not available

Genetic counseling

FFDD1 is transmitted in an autosomal dominant manner with full penetrance.

Management and treatment

No specific treatment exists. There is limited experience with plastic surgery for the facial scar-like lesions.

Prognosis

Affected individuals have a normal intelligence and life span.

Visit the Orphanet disease page for more resources.