Perforating elastoma (elastoma perforans serpiginosa of Miescher) is associated with several inherited connective tissue disorders such as the Marfan Syndrome, Pseudoxanthoma Elasticum, Osteogenesis Imperfecta and Ehlers-Danlos Syndrome. Here we describe an example presenting in adolescence but persisting into adulthood. The proposita then re-presented with premature venous varicosities and was noted to show the characteristic facial and cutaneous features of vascular Ehlers-Danlos Syndrome type IV. Protein chemistry showed poor collagen secretion with intracellular retention typical of C terminal mutations of collagen III. RT PCR of COL3A1 mRNA prepared from cultured skin fibroblasts shows a 50bp insertion within the gene fragment coding for cyanogen bromide peptide 9 [α1 (III) CB9]. Further studies are in progress to fully characterise this unusual mutation.