[Genetic diseases with skin fragility in children]

Area of Science:

• Genodermatoses
• Rare genetic disorders
• Pediatric dermatology

Context:

• Genetic diseases causing skin fragility present heterogeneous clinical and genetic features.
• Dermatologists and pediatricians must distinguish these rare conditions from common blistering causes like infections or trauma.
• Familiarity with varied manifestations and onset is essential for timely diagnosis and management.

Purpose:

• To provide an overview of genetic diseases causing skin fragility in children.
• To aid clinicians in differentiating rare genetic skin fragility disorders from common blistering conditions.
• To emphasize the importance of a diagnostic pathway and collaboration with specialized centers for rare diseases.

Summary:

• This study reviews genetic diseases characterized by skin fragility in childhood.
• Classification relies on clinical presentation, histological cleavage, and genetic analysis.
• Advances in genetic testing facilitate the integration of rare disease diagnosis into clinical practice.

Impact:

• Improved recognition of rare differential diagnoses for childhood blistering.
• Facilitation of appropriate treatment and referral to specialized care.
• Enhanced understanding of pathogenic mechanisms for genetic skin fragility.