‘Werner Syndrome foot’—A case series of four Irish Traveller siblings with Werner Syndrome, diabetes mellitus and complex foot disease

Abstract

AimsWerner Syndrome is a rare premature ageing autosomal recessive disorder caused by pathogenic variants in the WRN gene. People with Werner Syndrome may develop diabetes mellitus. Chronic foot ulceration is seen, with some characteristics overlapping with diabetic foot disease. However, the clinical course of the ulceration is atypical of diabetic foot disease. We present four siblings from an Irish Traveller family with Werner Syndrome to highlight the complexity of this condition. The Irish Traveller population are an indigenous, endogamous population in which consanguinity is common. As a result, rare autosomal recessive disorders are prevalent among this population

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Methods

We describe our experience managing the complex foot disease seen in all four siblings. Foot complications present in the siblings include painful peripheral neuropathy, chronic foor ulceration, underlying osteomyelitis and acral melanoma.

Results

The cases are described individually, with a particular focus on the complex foot disease associated with the condition.

Conclusions

Although the siblings attend a diabetic foot clinic, we suggest that the combination of clinical features seen in these cases is unique to Werner syndrome and warrants the title ‘Werner Syndrome’ (rather than ‘Diabetic’) foot.