Epidermolysis bullosa simplex Dowling-Meara: Troublesome blistering and pruritus in an adult patient

A 46-year-old woman with the Dowling-Meara variant of epidermolysis bullosa simplex (DM-EBS) presented with worsening recurrent, pruritic, circinate crops of clear and haemorrhagic herpetiform blisters affecting her trunk and limbs. Electron microscopy showed tonofilament aggregation and an infra-epidermal level of blister formation confirming a diagnosis of DM-EBS rather than an acquired immunobullous disorder. Antihistamines failed to control the intense pruritus, but dapsone (up to 150 mg daily) was beneficial. Mutations of basal cell keratin genes (K14 and K5) are thought to be of aetiopathological significance in this form of epidermolysis bullosa, but the underlying cellular mechanisms responsible for the clinical deterioration and severe itching in this adult patient are not yet clear.