The focal facial dermal dysplasias: report of a kindred and a proposed new classification.

BACKGROUND

The focal facial dermal dysplasias (FFDD) are a genetically heterogeneous group of disorders characterized by congenital bilateral scarlike facial lesions, with or without associated facial anomalies. The cases have been reported under various names; thus the nosology is confusing and unclear.

OBJECTIVE

Our purposes were to report our kindred, clearly delineate the various types of FFDD reported, and propose a new simplified classification.

METHODS

The clinical and histologic changes were examined and genealogy determined for our kindred. The medical literature was reviewed and the reported cases reexamined and categorized according to their clinical features and inheritance patterns.

RESULTS

We determined that there are three distinct varieties of FFDD: type I, autosomal dominant FFDD; type II, autosomal recessive FFDD; and type III, FFDD with other facial features.

CONCLUSION

We propose a new classification and provide evidence for three distinct varieties of FFDD: type I, autosomal dominant FFDD; type II, autosomal recessive FFDD; and type III, FFDD with other facial features (Setleis syndrome). Our kindred represents type II.