Focal facial dermal dysplasia (FFDD) is a genetically heterogeneous group of disorders that are characterized by congenital bilateral scarlike facial lesions, with or without associated facial anomalies. It is characterized by hairless lesions with fingerprint-like puckering of the skin, especially at the temples, due to alternating bands of dermal and epidermal atrophy.

This condition is also known as Brauer syndrome (OMIM 136500) and facial ectodermal dysplasia (Setleis syndrome: OMIM 227260).

Classification

There are at least four types of FFDD:^[1]

• Type I - autosomal dominant FFDD
• Type II - autosomal recessive FFDD
• Type III FFDD with other facial features
• Type IV - facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. Autosomal recessive.

Genetics

Type IV is due to mutations in the Cyp26c1 gene.^[2]

Clinical

Type I is characterised by symmetrical aplastic nevi of temples and bitemporal aplasia cutis congenita. The marks on the temples resembles forceps marks. It is characterized a puckered skin due to a virual absence of subcutaneous fat. Sketetal muscle is almost in dfirect continuity with the epidermis.