progressive pseudorheumatoid arthropathy of childhood

Progressive Pseudorheumatoid Arthropathy of Childhood (PPAC)

Progressive pseudorheumatoid arthropathy of childhood, also known as PPAC or PPD, is a rare genetic disorder that affects the joints and bones. It is characterized by progressive joint stiffness and degeneration of cartilage between bones.

Key Features:

• Age of Onset: Typically begins in early childhood, around 3-8 years old [1].
• Joint Involvement: Initially affects the hips, followed by other joints such as knees, elbows, and ankles [9].
• Progressive Joint Stiffness: Gradual worsening of joint stiffness and mobility [3].
• Cartilage Degeneration: Breakdown (degeneration) of articular cartilage between bones [6].

Other Relevant Information:

• PPAC is an autosomal recessive disorder, meaning it is inherited in a recessive pattern [4].
• It is also known as spondyloepiphyseal dysplasia tarda with progressive arthropathy [7].
• The condition can lead to reduced mobility and activity levels in affected children [5].

References:

[1] Context 2 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [9] Context 9

Progressive pseudorheumatoid arthropathy (PPD) of childhood, also known as progressive pseudorheumatoid dysplasia (PPRD), is a rare genetic disorder that affects the joints and bones. The signs and symptoms of PPD can vary in severity and may develop over time.

Common Signs and Symptoms:

• Progressive stiffness and swelling: Small joints of hands, particularly interphalangeal joints, are often affected first [1].
• Enlarged finger and knee joints: This swelling may be mistaken for juvenile rheumatoid arthritis or other joint-related conditions [3][7].
• Abnormal walking pattern: Children with PPD may exhibit an abnormal gait due to stiffness in the joints [4].
• Weakness and fatigue: As the condition progresses, individuals may experience muscle weakness and fatigue, particularly after physical activity [4].

Other Signs and Symptoms:

• Permanently bent fingers (camptodactyly): This is a common feature of PPD, where fingers become permanently bent due to joint contractures [2][7].
• Loss of or narrow joint spaces: In advanced cases, the joints may show signs of degeneration, such as loss of joint space or narrowing of joint spaces [5].

Important Note: The symptoms and signs of PPD can be similar to other conditions, making accurate diagnosis challenging. A comprehensive medical evaluation by a specialist is essential for proper diagnosis and management.

References:

[1] - Description of the first sign of PPD occurring during mid-childhood is enlargement of the finger joints. [2] - Other signs and symptoms that develop over time include permanently bent fingers (camptodactyly), enlarged finger and knee joints (often mistaken as swelling), ... [3] - Often, the first sign of PPD occurring during mid-childhood is enlargement of the finger joints. This swelling may be mistaken for juvenile rheumatoid arthritis ... [4] - Apr 1, 2013 — The first indications are usually an abnormal walking pattern, weakness and fatigue when active, and stiffness in the joints in the fingers and ... [5] - Nov 25, 2015 — Hands show enlarged epiphyses, widened metaphyses, and loss of or narrow joint spaces in the metacarpophalangeal and interphalangeal joints, ...

Based on the available information, diagnostic tests for Progressive Pseudorheumatoid Arthropathy of Childhood (PPD) include:

• Clinical and radiographic findings [1]
• Molecular testing is also available, although it's typically done on a research basis [1]

It's worth noting that genetic analysis can provide a molecular diagnosis of this disorder, which may be recommended for individuals with a personal and/or family history of PPD to ensure accurate diagnosis [7].

Additionally, radiological examination has been used to diagnose PPD, showing features such as spondyloepiphyseal dysplasia, severe acetabular irregularity, and osteoporosis [3].

Treatment Options for Progressive Pseudorheumatoid Arthropathy of Childhood (PPAC)

Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare genetic disorder that affects the joints and spine. While there is no cure for PPAC, various treatment options can help manage symptoms and improve quality of life.

• Pain Management: Pain medication is often used to alleviate joint pain and discomfort [6]. Over-the-counter pain relievers such as acetaminophen or ibuprofen may be prescribed.
• Physiotherapy: Regular physiotherapy sessions can help maintain joint mobility, reduce stiffness, and improve overall physical function [4].
• Surgical Interventions: In some cases, surgical interventions may be necessary to correct spinal deformities or replace damaged joints. Joint replacement surgery has been beneficial for many teenagers and young adults with PPAC, improving pain and increasing mobility [4].

It's essential to note that treatment is mainly symptomatic, and the prescription of immunosuppressive agents is unnecessary [1]. A multidisciplinary approach involving a team of healthcare professionals, including rheumatologists, orthopedic surgeons, and physical therapists, can provide comprehensive care for individuals with PPAC.

References:

[1] by K Maatallah · 2021 · Cited by 6 — Treatment is mainly symptomatic and the prescription of immunosupressive agents is unnecessary. [4] Many teenagers and young adults with PPD have benefited from joint replacement surgery, which improves their pain and increases their mobility. Most, if not all ... [6] The treatment of PPRD is only supportive and includes pain medication, physiotherapy, and surgical interventions. No etiological treatment is ...

Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive disorder that can be challenging to diagnose due to its similarities with other conditions. The differential diagnosis for PPAC includes:

• Juvenile Idiopathic Arthritis (JIA): This is the most common form of arthritis in children and adolescents, but it can be distinguished from PPAC by the presence of morning stiffness, elevated inflammatory markers, and joint inflammation.
• Spondyloepiphyseal Dysplasia Tarda (SEDT): This condition is characterized by progressive degeneration of articular cartilage, leading to joint deformities and disability. However, SEDT typically presents with more pronounced skeletal abnormalities than PPAC.
• Progressive Pseudorheumatoid Dysplasia (PPRD): This rare genetic skeletal disease shares similarities with PPAC in terms of its non-inflammatory arthropathy and progressive degeneration of articular cartilage.

To differentiate PPAC from these conditions, clinicians should consider the following:

• Age of onset: PPAC typically presents before the age of 8 years, whereas JIA can occur at any age.
• Symptoms: PPAC is characterized by progressive stiffness and swelling of small joints without obvious signs of inflammation. In contrast, JIA often presents with morning stiffness, joint pain, and elevated inflammatory markers.
• Imaging studies: Radiographic findings in PPAC may include joint enlargement, subchondral sclerosis, and cystic changes. However, these features can also be seen in SEDT and PPRD.

A definitive diagnosis of PPAC requires a combination of clinical evaluation, imaging studies, and genetic analysis. Clinicians should consider the differential diagnoses mentioned above when evaluating patients with suspected PPAC, and refer to specialized centers for further evaluation and management if necessary.

References:

• [3] PPRD usually begins in childhood, between ages 3 and 8.
• [6] Lack of morning stiffness, normal erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels, early development of painless joint ...
• [11] Progressive pseudorheumatoid arthropathy of childhood, progressive pseudorheumatoid dysplasia, ... Imaging plays a crucial role in the differential diagnosis between the two diseases.
• [12] Progressive pseudorheumatoid dysplasia (PPRD; MIM#208230), also known as Progressive pseudorheumatoid arthropathy of child-hood or Spondyloepiphyseal dysplasia tarda with progressive ar-thropathy, is a rare autosomal-recessive noninflammatory arthrop-athy of childhood.