From the Guidelines
Congenital hand deformities resembling rheumatoid hands present since birth are primarily caused by genetic disorders and developmental abnormalities during fetal development. The most common causes include arthrogryposis multiplex congenita, which results from decreased fetal movement leading to joint contractures; camptodactyly, a non-progressive flexion deformity of the fingers; clinodactyly, characterized by curved or deviated fingers; and certain genetic syndromes like Apert syndrome, Marfan syndrome, and Poland syndrome 1. Chromosomal abnormalities such as trisomy 18 and trisomy 21 can also produce hand deformities. Intrauterine constraints, where the developing fetus has restricted movement in the womb, may contribute to these conditions. Vascular disruptions during fetal development can cause symbrachydactyly or transverse deficiencies. Unlike adult rheumatoid arthritis, these congenital deformities are not inflammatory in nature but result from structural developmental issues. Early evaluation by a pediatric hand specialist is essential for proper diagnosis and treatment planning, which may include physical therapy, splinting, or surgical intervention depending on the specific condition and its severity. Some key points to consider in the diagnosis and management of these conditions include:
- Functional impairment in hand deformities may be severe, similar to rheumatoid arthritis, and should be carefully assessed and monitored using validated outcome measures 1.
- A comprehensive assessment of the patient's overall health and developmental status is crucial in determining the best course of treatment.
- Treatment planning should be individualized to address the specific needs and goals of each patient, taking into account the severity of the deformity and the patient's overall health status.
From the Research
Hand Deformities Resembling Rheumatoid Hands Present Since Birth
The causes of hand deformities resembling rheumatoid hands present since birth can be attributed to various factors.
- Congenital conditions such as arthrogryposis, which is characterized by multiple congenital contractures, can lead to hand deformities similar to those seen in rheumatoid arthritis 2.
- Decreased fetal movement, also known as fetal akinesia, can result in a variety of secondary deformations, including hand deformities 2.
- Genetic abnormalities have been found to be responsible for over 150 specific types of arthrogryposis, which can manifest as hand deformities 2.
- Other factors such as maternal illness, trauma, and drugs, as well as limitation of fetal space, vascular compromise, and metabolic disorders, can also contribute to the development of hand deformities 2.
Comparison with Rheumatoid Arthritis
While rheumatoid arthritis is an autoimmune disease that typically develops later in life, the hand deformities associated with it can be similar to those present at birth due to congenital conditions.
- The pathogenesis of rheumatoid arthritis involves synovitis and pannus formation, leading to direct tissue invasion and mass effect resulting in stretching and attenuation of ligaments 3.
- In contrast, the pathogenesis of congenital hand deformities involves decreased fetal movement and genetic abnormalities 2.
- However, both conditions can result in similar hand deformities, such as thumb deformity, finger deformities, and ulnar drift 4, 5.
Treatment and Management
The treatment and management of hand deformities resembling rheumatoid hands present since birth depend on the underlying cause and severity of the condition.
- For congenital conditions such as arthrogryposis, early and aggressive management with intensive physiotherapy and bracing is essential 6.
- Surgical techniques may also be necessary to correct deformities and improve function 6.
- A multidisciplinary approach involving healthcare professionals, families, and patients is crucial for effective management and treatment of these complex conditions 6.