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Purpose <p>Progressive pseudorheumatoid dysplasia (PPD) is an extremely rare genetic condition characterized by the degradation of articular cartilage. It is caused by a loss of function mutation in the CCN6 gene found on 6q22. It generally presents between the ages of 3&#xa0;years and 6&#xa0;years with joint pain and swelling, usually of the hands and hips before progressing to other joints. Cases are often misdiagnosed, largely attributed to their rarity and sharing some features with juvenile idiopathic arthritis (JIA). This report increases awareness that PPD may present with a very atypical phenotype. This is, to our knowledge, the first case report of PPD with intervertebral disc pathology.</p> Methods <p>This case report describes a male patient whose main presenting complaint was neck stiffness, which he developed at age 6&#xa0;years. It became progressively worse. He then developed pain in his right knee and left foot. His hands and hips are unaffected. MRI spine showed highly unusual bifid-like intervertebral discs which led to genetic testing, confirming the diagnosis of PPD.</p> Conclusions <p>Much of the literature concerning PPD focuses on the ‘typical’ presentation of pain and swelling in the hand, hip, and knee joints. Many affected patients have had a misdiagnosis of JIA prior to being diagnosed with PPD. However, PPD is a heterogeneous condition with a wide range of presentations as illustrated by this case report. Children of normal stature presenting with other rheumatological symptoms, including spinal restriction with normal inflammatory markers, should be considered for a diagnosis of PPD.</p>

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Restricted neck movements—a rare presentation of a rare disease

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月24日

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  • Anna Morgan,
  • Izidora Holjar-Erlic,
  • Alison Kelly

摘要

Purpose

Progressive pseudorheumatoid dysplasia (PPD) is an extremely rare genetic condition characterized by the degradation of articular cartilage. It is caused by a loss of function mutation in the CCN6 gene found on 6q22. It generally presents between the ages of 3 years and 6 years with joint pain and swelling, usually of the hands and hips before progressing to other joints. Cases are often misdiagnosed, largely attributed to their rarity and sharing some features with juvenile idiopathic arthritis (JIA). This report increases awareness that PPD may present with a very atypical phenotype. This is, to our knowledge, the first case report of PPD with intervertebral disc pathology.

Methods

This case report describes a male patient whose main presenting complaint was neck stiffness, which he developed at age 6 years. It became progressively worse. He then developed pain in his right knee and left foot. His hands and hips are unaffected. MRI spine showed highly unusual bifid-like intervertebral discs which led to genetic testing, confirming the diagnosis of PPD.

Conclusions

Much of the literature concerning PPD focuses on the ‘typical’ presentation of pain and swelling in the hand, hip, and knee joints. Many affected patients have had a misdiagnosis of JIA prior to being diagnosed with PPD. However, PPD is a heterogeneous condition with a wide range of presentations as illustrated by this case report. Children of normal stature presenting with other rheumatological symptoms, including spinal restriction with normal inflammatory markers, should be considered for a diagnosis of PPD.