From the Research
Borjeson-Forssman-Lehmann syndrome is not typically associated with arthritis as a primary feature. This rare genetic disorder is characterized by intellectual disability, obesity, seizures, hypogonadism, distinctive facial features, and abnormalities of the fingers and toes, as described in a recent case report 1. While some patients may experience musculoskeletal issues such as joint hypermobility or contractures, arthritis is not considered a characteristic manifestation of this syndrome. The condition is caused by mutations in the PHF6 gene on the X chromosome and primarily affects males, though females can be carriers and show milder symptoms 2.
The management of Borjeson-Forssman-Lehmann syndrome focuses on addressing the specific symptoms each patient experiences, such as developmental support for intellectual disability, hormone replacement for hypogonadism, and anticonvulsants for seizures. If joint problems do occur in patients with this syndrome, they would typically be managed according to standard protocols for those specific issues rather than as a direct treatment for the syndrome itself. It's worth noting that the use of nonsteroidal anti-inflammatory drugs (NSAIDs) for joint problems should be approached with caution, considering the potential cardiovascular risks associated with their use, as highlighted in recent studies 3.
Key points to consider in the management of Borjeson-Forssman-Lehmann syndrome include:
- Addressing specific symptoms such as intellectual disability, hypogonadism, and seizures
- Managing joint problems according to standard protocols for those specific issues
- Considering the potential cardiovascular risks associated with NSAID use
- Providing developmental support and hormone replacement therapy as needed
- Monitoring for complications such as seizures and hearing problems, as mentioned in a recent study 1.