A Novel <i>SMAD4</i> Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

<div>(a) Juvenile polyp surface with tortious glands of varying size focally filled with mucus and lined by columnar epithelium. Note the oedematous and inflamed stroma. (b) No smooth muscle fibres are detected. An oedematous and inflamed stroma with collagen fibers. (c) High magnification of part of the juvenile polyp with marked congestion and dilated glands with prominent mucin and cell debris. Infiltration of lamina propria with large amounts of mononuclear cells mainly plasma cells.</div>

Case Reports in Gastrointestinal Medicine

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Figure 2: A Novel <i>SMAD4</i> Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia 

Figure 2 | A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia 