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Primary hypertrophic osteoarthropathy.

H B Diren, M T Kutluk, A Karabent

Pediatric Radiology

|January 1, 1986

Summary

This study reports a family with five members affected by primary hypertrophic osteoarthropathy (PHO). Clinical and radiological findings confirmed the diagnosis in affected individuals with swollen joints and digital clubbing.

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Area of Science:

Medical genetics
Rheumatology
Orthopedics

Background:

Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder.
It affects bone and joint development, leading to characteristic clinical manifestations.

Observation:

A family with five members diagnosed with PHO is presented.
Affected individuals exhibited swollen and painful joints.
Digital clubbing of hands and feet was a prominent feature.

Findings:

Diagnosis was established based on a combination of clinical examination and radiological evidence.
The findings are consistent with the typical presentation of primary hypertrophic osteoarthropathy.

Implications:

This case series contributes to understanding the familial occurrence of PHO.
Highlights the importance of integrated clinical and radiological assessment for diagnosing rare genetic bone disorders.

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