Cerebriform fibrous proliferation vs. proteus syndrome

Area of Science:

• Dermatology
• Genetics
• Rare Diseases

Background:

• Proteus syndrome is a rare congenital hamartomatous disorder characterized by diverse clinical manifestations.
• Diagnosis relies on three key criteria: mosaic lesion distribution, progressive course, and sporadic occurrence.
• Connective tissue nevi, particularly on the plantar feet, further support the diagnosis when other criteria are met.

Observation:

• A 48-year-old woman presented with a plantar foot lesion initially diagnosed and unsuccessfully treated as a keloid.
• Histopathological reevaluation of the lesion was performed.
• The unique characteristics of this lesion prompted further investigation.

Findings:

• The patient's lesion, initially misdiagnosed, exhibited features potentially indicative of Proteus syndrome.
• The possibility of a localized manifestation of Proteus syndrome was considered.
• This case highlights the diagnostic challenges associated with rare genetic disorders.

Implications:

• Accurate diagnosis of Proteus syndrome is crucial for appropriate patient management.
• This case underscores the importance of thorough histopathological evaluation for unusual dermatological presentations.
• Further research into localized forms of Proteus syndrome may improve diagnostic accuracy and treatment strategies.