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

Author:

McGrath Aisling1,Lockhart Michael1,Griffin Tomas1ORCID,Lynch Sally Ann2,Dinneen Sean F.13

Affiliation:

1. Centre for Endocrinology, Diabetes and Metabolism Galway University Hospitals Galway Ireland

2. Children's Health Ireland at Crumlin Dublin Ireland

3. University of Galway Galway Ireland

Abstract

AbstractAimsWerner 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.MethodsWe 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.ResultsThe cases are described individually, with a particular focus on the complex foot disease associated with the condition.ConclusionsAlthough 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.

Publisher

Wiley

Reference14 articles.

1. National Organisation of Rare Diseases.Werner Syndrome. Accessed June 7 2023.https://rarediseases.org/rare‐diseases/werner‐syndrome/

2. Central Statistics Office Census.2022Profile 5 ‐ Diversity Migration Ethnicity Irish Travellers and Religion.www.cso.ie

3. Management guideline for W erner syndrome 2020. 6. Skin ulcers associated with W erner syndrome: Prevention and non‐surgical and surgical treatment

4. International Registry of Werner Syndrome. Accessed June 30 2023.https://www.orpha.net/consor/cgi‐bin/OC_Exp.php?Lng=GB&Expert=902

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