[Epidermolysis bullosa dystrofica. Report of a case]. / Dystrophike pompholygodes epidermolyse perigraphe mias periptoses.

The dystrophic recessive type of epidermolysis bullosa affects the oral mucosa. Bullae which eventually rupture leaving painful ulcerations and finally lead to scarring usually appear on the tongue, cheek, lips and gingiva. A case of recessive dystrophic polydysplastic epidermolysis bullosa with oral manifestations in a female 23 years old is described in this paper. The patient had all the clinical characteristics of the disease.

Transcriptional map of chromosome region 6q16-->q21.

We present the transcription map of chromosome region 6q16-->q21 by mapping fifteen known genes within this region. Five genes lay in the subregion containing a tumor suppressor gene, eight genes are located in the subregion harboring a senescence gene, and two genes are distal to the latter region. The precise location of the genes was obtained using a previously described translocation and deletion mouse/human hybrid panel. An even more accurate definition was possible for the genes spanning the senescence gene region, since a previously described YAC contig with its restriction map was available. From this transcription map it is possible to derive a large region of synteny with mouse chromosome 10.