[Bone anomalies in von Recklinghausen disease]

Area of Science:

• Orthopedics
• Genetics
• Neurology

Background:

• Neurofibromatosis is a genetic disorder with diverse clinical presentations.
• Skeletal abnormalities are a common but often overlooked feature of neurofibromatosis.

Purpose of the Study:

• To review the principal bone anomalies associated with neurofibromatosis.
• To highlight the importance of skeletal manifestations in diagnosis and management.

Main Methods:

• Retrospective review of 28 neurofibromatosis cases.
• Analysis of skeletal manifestations, focusing on cranial vault, spheno-orbital, and vertebral spine involvement.

Main Results:

• Observed numerous and varied skeletal anomalies in the reported cases.
• Cranial vault, spheno-orbital region, and vertebral spine were frequently affected.

Conclusions:

• Skeletal manifestations of neurofibromatosis are extensive and diverse.
• It is imperative to consider bone anomalies in neurofibromatosis, as neurological and cutaneous signs may be absent.