[Genetic diseases with skin fragility in children]

Genetic diseases leading to skin fragility are clinically and genetically heterogeneous. Dermatologists and pediatricians should be familiar with the variability of manifestations and manifestation age, in order to differentiate these rare diseases from more common causes of blistering, such as infectious (impetigo contagiosa, herpes infection) or traumatic causes (burns, scalds). This is essential to initiate appropriate diagnostic measures, provide information on treatment and prevention and to refer to specialized centers.

The classification of the diseases discussed here is based on the clinical appearance, the histologic cleavage level, and genetic alterations. These diseases are all rare and pathogenetically only partially understood. Treatment methods are mostly symptomatic; causal therapies are the exception. Thanks to advances in mutation detection methods and the assumption of costs for massive parallel sequencing (since 2021) by health insurance companies, rare diseases have moved from the focus of academic research into everyday clinical practice. Due to the rarity, variability of the phenotype and, in many cases, high need for care, it is important in everyday clinical practice to be able to apply a pathway for suspected diagnoses and to work together with specialized colleagues and care centers.

This study provides an overview of genetic diseases with skin fragility in childhood.

Knowledge of the underlying mechanisms leading to skin fragility in childhood can help to recognize rare differential diagnoses from more common infectious and traumatic causes of blistering. This is necessary to enable adequate treatment and referral to specialized care centers and colleagues.