Syndromic Genodermatoses in the Practice of a Neonatologist and Pediatrician: Clinical Case of a Child with Junctional Epidermolysis Bullosa, type Herlitz

Abstract

Aim. To present a clinical case of a child with severe junctional epidermolysis bullosa, type Herlitz, highlighting the specific features of the disease course as well as modern approaches to the management and treatment of this category of patients. Key points. Severe junctional epidermolysis bullosa, formerly known as epidermolysis bullosa letalis (International Classification of Diseases, 10th revision: Q81.1, OMIM #226700), is a rare orphan disorder characterized by increased skin fragility with the appearance of specific skin lesions in the form of blisters. The disease is inherited in an autosomal recessive manner and occurs due to mutations in the genes encoding laminin 332. Severe junctional epidermolysis bullosa presents at birth and progresses rapidly, with involvement of the mucous membranes and skin appendages. Slowly healing wounds contribute to secondary infection and the development of chronic inflammation. The disease is characterized by multiorgan involvement, which accounts for the extremely poor prognosis. This article presents a clinical case of a child with genetically confirmed severe junctional epidermolysis bullosa associated with a mutation in the LAMC2 gene. Conclusion. Children with severe junctional epidermolysis bullosa, type Herlitz, are prone to a severe cutaneous manifestations and the development of systemic manifestations involving skin appendages as well as the respiratory and digestive systems. The presence of rapidly progressive skin lesions from birth allows for early diagnosis and the initiation of appropriate therapy to prevent wound infection with multidrug-resistant microorganisms. Keywords: severe junctional epidermolysis bullosa, Herlitz epidermolysis bullosa, epidermolysis bullosa letalis, LAMC2 mutation, laminin 332.