Dystrophic epidermolysis bullosa pruriginosa of elderly onset
Article first published online: 28 SEP 2010
© 2010 Japanese Dermatological Association
The Journal of Dermatology
Volume 38, Issue 2, pages 173–178, February 2011
How to Cite
HAYASHI, M., KAWAGUCHI, M., HOZUMI, Y., NAKANO, H., SAWAMURA, D. and SUZUKI, T. (2011), Dystrophic epidermolysis bullosa pruriginosa of elderly onset. The Journal of Dermatology, 38: 173–178. doi: 10.1111/j.1346-8138.2010.00953.x
- Issue published online: 27 JAN 2011
- Article first published online: 28 SEP 2010
- Received 16 January 2010; accepted 17 March 2010.
- dystrophic epidermolysis bullosa pruriginosa;
- elderly onset;
- glycine substitution;
A 71-year-old man with no family history of skin diseases presented with a 4 month history of recalcitrant pruritic papules and nodules on the lower extremities. He had prurigo-like eruptions with tense bullae on the extensor aspect of his lower extremities with multiple adjacent milia. Toenail dystrophy was observed. Mucous membranes were not affected. Skin biopsy from the shin showed a subepidermal blister with milium. Electron microscopy from lesional and perilesional skin of the leg showed scanty, hypoplastic anchoring fibrils. We detected a heterozygous mutation in the COL7A1 gene, a G-to-A substitution in exon 87 (c.6859G>A; p.Gly2287Arg). Thus, the clinicopathological and molecular findings supported a diagnosis of dystrophic epidermolysis bullosa pruriginosa. Assessment of other relatives was not feasible. To the best of our knowledge, this is the oldest clinical onset of this unusual variant of dystrophic epidermolysis bullosa reported to date. Why the onset of skin fragility should have occurred so late is not known, but the case serves as a reminder that this particular mechanobullous disease can have a delayed presentation.