Syndromes with focal overgrowth in infancy: diagnostic approach and surgical treatment

Area of Science:

• Medical Genetics
• Pediatric Endocrinology
• Dermatology

Background:

• Focal overgrowth syndromes are rare, sporadic genetic disorders.
• Key examples include Proteus syndrome, congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia.
• These conditions are characterized by disproportionate growth of various body tissues.

Purpose of the Study:

• To describe three pediatric cases classified according to established criteria for focal overgrowth syndromes.
• To highlight the importance of accurate classification for guiding surgical interventions.
• To emphasize the need for comprehensive management strategies to prevent long-term disfigurement.

Main Methods:

• Clinical case series involving three children diagnosed with focal overgrowth syndromes.
• Application of standard diagnostic criteria for classification.
• Surgical excision of dysregulated tissues, excess digits, and tumors.

Main Results:

• Successful classification of three pediatric patients with distinct focal overgrowth syndromes.
• Surgical intervention was performed to remove excess tissues, digits, and tumors.
• The study underscores the link between precise diagnosis and surgical outcomes.

Conclusions:

• Correct classification of focal overgrowth syndromes is crucial for appropriate diagnosis and surgical planning.
• Interdisciplinary treatment and long-term follow-up are recommended.
• Early and accurate management can significantly improve outcomes and prevent disfigurement.