PPNDS

Progressive Pseudorheumatoid Dysplasia
Specialty	Rheumatology, Genetics
Symptoms	Joint pain, stiffness, and swelling
Usual onset	Childhood
Duration	Lifelong
Causes	Genetic mutation in the WISP3 gene
Diagnostic method	Clinical evaluation, genetic testing
Treatment	Symptomatic management
Prognosis	Variable

Progressive Pseudorheumatoid Dysplasia (PPND) is a rare genetic disorder characterized by progressive joint stiffness, pain, and swelling, often leading to significant disability. Unlike rheumatoid arthritis, PPND does not involve inflammation of the synovial membrane, and it is not an autoimmune condition.

Etiology

PPND is caused by mutations in the WISP3 gene, which is located on chromosome 6q22. This gene encodes a protein involved in cartilage homeostasis. Mutations in WISP3 lead to the degeneration of articular cartilage, resulting in the clinical manifestations of the disease.

Clinical Presentation

The onset of PPND typically occurs in childhood, usually between the ages of 3 and 8 years. The initial symptoms include joint pain and stiffness, particularly in the hips, knees, and spine. As the disease progresses, patients may develop contractures and deformities due to the loss of cartilage and joint space narrowing.

Unlike juvenile idiopathic arthritis, PPND does not present with systemic symptoms such as fever or rash. The absence of inflammatory markers in laboratory tests helps differentiate PPND from inflammatory arthritides.

Diagnosis

Diagnosis of PPND is primarily clinical, supported by radiographic findings and genetic testing. X-rays typically show narrowing of joint spaces, subchondral sclerosis, and osteophyte formation. Genetic testing can confirm the diagnosis by identifying mutations in the WISP3 gene.

Management

There is no cure for PPND, and treatment is focused on managing symptoms and maintaining joint function. Physical therapy is crucial to preserve mobility and prevent contractures. Pain management may include the use of analgesics and non-steroidal anti-inflammatory drugs (NSAIDs), although the latter should be used cautiously due to the lack of inflammation in PPND.

In severe cases, surgical interventions such as joint replacement may be considered to improve quality of life.

Prognosis

The prognosis of PPND varies depending on the severity of the symptoms and the effectiveness of management strategies. While the condition is progressive, early intervention and consistent management can help maintain mobility and reduce pain.

Also see

• Rheumatoid arthritis
• Juvenile idiopathic arthritis
• Osteoarthritis
• Genetic disorders

Rheumatologic diseases

Arthritis is often used to refer to any disorder that affects the joints. Rheumatic diseases usually affect joints, tendons, ligaments, bones, and muscles. Rheumatologic diseases usually affect joints, tendons, ligaments, bones, and muscles.

Connective Tissue Diseases

Rheumatology and	Connective Tissue Diseases
Ankylosing spondylitis	Arthritis
Arthritis and Rheumatic diseases	Autoimmune diseases
Autoinflammatory diseases	Behçet’s disease
Bursitis	Giant cell arteritis
Gout	Juvenile arthritis
Knee problems	Lupus
Osteoarthritis	Polymyalgia rheumatica
Psoriatic arthritis	Reactive arthritis
Rheumatoid arthritis	Scleroderma
Sjögren’s syndrome	Systemic lupus erythematosus (Lupus)
Tendinitis	Rheumatologic diseases