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Keywords:

  • COL7A1;
  • dystrophic epidermolysis bullosa pruriginosa;
  • elderly onset;
  • glycine substitution;
  • prednisolone

Abstract

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.