Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

Recurrent digital fibroma of infancy generally is considered a sporadic tum or of childhood. We describe the case of a mother with recurrent digital fi broma at a young age who gave birth to a daughter with focal dermal hypopla sia, coloboma of the iris and eyelids, anal atresia, and extensive limb mal formations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consang uineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linea r skin defects" (MLS), Since the skin signs are clearly different, however- more like those of Setleis syndrome ("forceps mark') temporal dysplasia)-th e patients described here seem to have a new combination of congenital malf ormations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization, This patt ern of digital fibroma with congenital malformations seems to represent a n ew syndrome. (C) 2000 Wiley-Liss, Inc.