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A differential diagnosis can be made according to the typical clinical and imaging manifestations of MNTI, as well as the histopathological hallmarks, such as the epithelioid and neuroblastoma-like biphasic differentiation of tumor cells and the existence of pigment (2)

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A small study of five infants with severe generalized JEB with at least one premature truncating pathogenic variant in LAMB3 evaluated the clinical effects of treatment with gentamicin (7.5 mg/kg/day for 3 weeks) on skin fragility and other clinical features