Fig. 5
From: Ichthyosis with confetti: clinics, molecular genetics and management
Proposed diagnostic algorithm for ichthyosis with confetti. Medical history and physical examination raise diagnosis suspicion. Histological examination and keratin immunolocalization show specific findings, such as suprabasal keratinocyte vacuolization and nuclear keratin staining, respectively. Electron microscopy may further support the diagnosis. Finally, mutational analysis of KRT10/KRT1 genes represents the gold standard to confirm the diagnosis. Findings relevant to differential diagnosis are in bold