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A rare syndrome mimicking scleroderma: Werner syndrome
Burak Okyar1, Seçkin Akben2, Bekir Torun1
1Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Kahramanmaraş Sütçü İmam University, Kahramanmaraş,Turkey.
Modern Rheumatology Case Reports
|October 8, 2022
Summary
Werner syndrome (WS), a premature aging disorder, can mimic systemic sclerosis, delaying diagnosis. Early identification of WS is crucial for managing complications and preventing malignancies.
Area of Science:
- Genetics
- Internal Medicine
- Dermatology
Background:
- Werner syndrome (WS), or adult progeria, is a premature aging disorder.
- WS presents with diverse symptoms including cardiovascular, metabolic, and skin issues.
- WS symptoms can overlap with other conditions, notably systemic sclerosis, complicating diagnosis.
Observation:
- A 43-year-old female patient presented with skin hardening, facial changes, and capillary abnormalities suggestive of systemic sclerosis.
- The patient had a history of diabetes mellitus and chronic osteomyelitis.
- Initial presentation mimicked systemic sclerosis, highlighting diagnostic challenges.
Findings:
- Genetic analysis confirmed Werner syndrome (WS) with a homozygous c.2221 C>P p.R741* mutation.
- The patient's clinical presentation, including skin and vascular findings, aligned with WS.
- The case underscores the potential for WS to be misdiagnosed as systemic sclerosis.
Implications:
- Early diagnosis of WS is essential for timely intervention and management of associated complications.
- Recognizing subtle clinical clues suggestive of WS can prevent diagnostic delays.
- Prompt WS diagnosis can mitigate risks of malignancy, a common cause of mortality in affected individuals.
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