PROTEUS 7.9 PORTABLE
Tuula Rud
Happle (1999) suggested the designation elattoproteus syndrome for a disorder that he considered to be an inverse form of Proteus syndrome. He described a 7-year-old boy with partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of Proteus syndrome. Paradoxically, however, he had only a few rather mild lesions of disproportionate overgrowth. The presence of a hyperostosis of the external auditory meatus was taken as a highly characteristic sign of Proteus syndrome (Cohen, 1993; Smeets et al., 1994). Happle (1999) proposed to explain this unusual phenotype in the following way: 'At the (so far unknown) gene locus responsible for Proteus syndrome, there may occur various allelic mutations giving rise to overgrowth of somatic tissues. Such mutations can be called Pleioproteus alleles, a term derived from the Greek word 'pleion,' meaning plus. Conversely, the same gene locus may harbor alleles responsible for deficient growth of somatic tissues. Such mutations can be called Elattoproteus alleles, after the Greek word 'elatton,' meaning minus. Patients affected with Proteus syndrome may show classic overgrowth or a mixture of Pleioproteus and Elattoproteus lesions or even an isolated elattoproteus phenotype that has so far not been described.'