Diaphyseal aclasis affecting the temporomandibular joint

Area of Science:

• Skeletal biology
• Genetic disorders
• Medical case reports

Background:

• Diaphyseal aclasis (DA) is a rare genetic disorder characterized by multiple cartilaginous exostoses, primarily affecting long bones.
• While DA commonly occurs in long bones and the spine, its occurrence in the jaws has not been previously documented.
• Spinal involvement in DA can lead to serious complications such as spinal cord compression.

Observation:

• A patient with known diaphyseal aclasis at multiple anatomical sites presented with temporomandibular joint (TMJ) abnormalities.
• The observed TMJ changes were highly indicative of diaphyseal aclasis manifestation within the jaw.
• This represents a novel presentation of diaphyseal aclasis in the temporomandibular joint.

Findings:

• The case details the clinical presentation, diagnostic investigations, and management strategies for diaphyseal aclasis affecting the temporomandibular joint.
• Radiological and clinical findings confirmed the presence of cartilaginous exostoses within the TMJ region.
• A review of existing literature on diaphyseal aclasis was conducted to contextualize this unique case.

Implications:

• This report expands the known anatomical distribution of diaphyseal aclasis to include the jaws.
• Understanding DA's potential manifestation in the TMJ is crucial for accurate diagnosis and timely intervention.
• Further research may elucidate the specific mechanisms driving jaw involvement in diaphyseal aclasis.