Fig. 2: Clinical and histopathologic features of patients with LYN gain-of-function mutations. | Nature Communications

Fig. 2: Clinical and histopathologic features of patients with LYN gain-of-function mutations.

From: Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

Fig. 2

a Periorbital edema and erythema in Pt.2 (left panel), non-blanching vascular rashes in Pt.1’s lower extremities (center panel), and left thigh MRI from Pt.1 (right panel) depicting fasciitis (green circle) and periostitis (red circle) are shown. b Hematoxylin & eosin (H&E) staining from lesional skin biopsies of Pt.1 (first column images) and Pt.2 (second column images) show destruction of a small vessel with surrounding inflammatory cells in Pt.1 (black arrow) and a perivascular infiltrate in Pt.2 (asterisk) (upper panels, scale bars, 100 μm). The endothelial cells and surrounding neutrophils are Lyn kinase (Lyn) positive in both patients (middle panels, scale bars, 100 μm). The lower panels show the localized accumulation of neutrophil extracellular traps (NETs) (pink) surrounding the small vessels in Pt.1 and Pt.2, respectively. cit-H4, citrulline histone H4, scale bars, 20 μm. c A Liver biopsy performed in Pt.1 at the age of 22 months illustrates a portal area lacking a bile duct on H&E (left upper panel) and early peri-sinusoidal fibrosis on Masson’s trichrome staining (right upper panel). Lyn staining of sinusoidal cells and endothelial cells in the portal areas is shown in Pt.1’s liver biopsy that was performed at the age of 4 years (lower panel). Scale bars, 20 μm. d Colon biopsy from Pt.2 shows apoptosis of multiple crypt epithelial cells (black arrows). Scale bar, 20 μm.

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