Dystrophic Epidermolysis Bullosa Inversa - Case Report and Review of the Literature

Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis bullosa with a unique clinical manifestation. Generalized blistering in the neonatal period and in early infancy improves with age, with lesions becoming restricted to intertriginous areas, axial parts of the trunk, and mucous membranes. In contrast to other variants of dystrophic epidermolysis bullosa, the inverse type has a more favorable prognosis. We present a case of a 45-year-old female patient with dystrophic epidermolysis bullosa inversa, diagnosed in adulthood based on typical clinical presentation, transmission electron microscopic findings, and genetic analysis. Additionally, genetic analysis revealed that the patient also suffered from Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy. To our knowledge, the coexistence of these two genetic diseases has not been reported so far. We describe clinical and genetic findings in the patient and review previous reports on dystrophic epidermolysis bullosa inversa. A possible temperature-related pathophysiology for the peculiar clinical manifestation is discussed.