PMC6362422_01
Clinical phenotype in a patient with NF-kappaB1 deficiency. (A) Skin biopsy showing a dense cellular infiltrate by Langerhans cells. Magnification 200x. Hematoxilin-eosin; (B) Skin biopsy with Langerhans cells infiltrating epidermis and subcutaneous tissues, positive to CD1a. Magnification 200x. Immunohistochemistry CD1a; (C) Panoramic view of bone marrow with many histiocytes with granular cytoplasm. Magnification 40x. Inside images: high power view of histiocytes between hematopoietic cells. They were intensely positive with acid-alcohol techniques (Ziehl Nielsen). Magnification 400x. Hematoxilin-eosin and Ziehl Nielsen; (D) Panoramic view of duodenal biopsy with villi shortened and lamina propria expanded by many granular histiocytes that stained positive with Ziehl Nielsen to detect Acid-resistant bacilli (inside). Magnification 200x. Hematoxilin-eosin. Inside Ziehl-Nielsen. Magnification 200x (E) Post-contrast coronal T2-weighted MRI of the abdomen showing mesentery enhancement. (F) Small bowel biopsy showing myenteric plexus with lymphoplasmocitoid inflammatory cells. Magnification 200x.
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Skin biopsy revealed Langerhans cell histiocytosis (LCH) (Figures 1A,B). Biopsies were obtained from bone marrow and gut detecting acid-alcohol resistant bacilli identified as Mycobacterium genavense by PCR techniques (Figures 1C,D). Due to the persistence of the pain an MRI was obtained (Figure 1E) revealing sclerosing mesenteritis. A new gut biopsy revealed chronic lymphocytic plexitis (Figure 1F).