Article Text
Statistics from Altmetric.com
The acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome was first described in 1993 by Propping and Zerres.1 The main manifestations of the syndrome are ectrodactyly, excessive freckling, onychodysplasia, lacrimal duct obstruction, hypodontia, and/or early loss of permanent teeth. Other clinical signs may include frontal alopecia, syndactyly, hypoplastic nipples and breasts, and typical neurodermitic signs such as exfoliative dermatitis of the fingers and toes. It belongs to the group of developmental disorders (EEC, ectrodactyly, ectodermal dysplasia; cleft palate syndrome; LMS, limb mammary syndrome; UMS, ulnar-mammary syndrome) that are based on mutations in the TP63 gene.2 Propping and Zerres1 have traced symptoms of ADULT syndrome through five generations of one particular family. The expression of the described clinical signs is variable. A linkage study had mapped the gene to chromosomal region 3q27 where the gene of LMS had been located.3,4 The responsible gene proved to be TP63.5 Except for this particular family the ADULT syndrome has so far only been described in four single non-related …