Digital Acro-osteolysis Revealing Hajdu-Cheney Syndrome in an Elderly Patient: A Case Report.

J Hand Surg Asian Pac VolAug 31, 2026 (epub)
Case ReportMedical GeneticsGeriatricsRheumatology

Antonio García-Jiménez, Lluis Pomerol, Eulàlia Armengol

✦ AI-curated · Sources linked

Case in brief

An 85-year-old woman presented with infectious dactylitis of the right third finger. Radiographic examination revealed distal osteolysis in multiple digits. After ruling out other causes, genetic testing identified a heterozygous NOTCH2 mutation, confirming Hajdu-Cheney syndrome. This case underscores the significance of recognizing specific radiographic and clinical features to avoid misdiagnosis and unnecessary interventions.

Diagnostic / clinical pearl

Clinicians should be aware that Hajdu-Cheney syndrome can present with distal phalangeal osteolysis, which may mimic infectious or rheumatologic conditions.

Why it matters

Recognizing Hajdu-Cheney syndrome can prevent misdiagnosis and unnecessary surgical procedures, leading to better management of affected patients.

Source

PubMed · PMID 42687788

Published in J Hand Surg Asian Pac Vol. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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AI-generated summaries may contain errors or omissions. Verify clinically important information with the original publication.

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