Management of craniofacial hyperostosis in Proteus syndrome

Area of Science:

• Medical Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Proteus syndrome is a rare congenital hamartomatous disorder.
• It is characterized by diverse malformations, frequently involving craniofacial structures.
• Skin and skeletal anomalies are common, leading to significant physical deformities.

Observation:

• This report presents two cases of Proteus syndrome.
• One patient experienced a recurrence of cranial hyperostosis four years post-treatment.
• The second patient presented with macrosomia and distinctive facial features due to craniofacial hyperostosis, seeking treatment after 50 years.

Findings:

• The study details the clinical presentation and management of craniofacial involvement in Proteus syndrome.
• Recurrence of cranial hyperostosis was observed in one patient.
• Delayed presentation for treatment was noted in the second patient.

Implications:

• Understanding Proteus syndrome's varied manifestations is crucial for timely diagnosis and management.
• Effective management strategies for craniofacial hyperostosis in Proteus syndrome are presented.
• This case series contributes to the literature on Proteus syndrome, emphasizing long-term follow-up and diverse clinical courses.