Pyoderma gangrenosum in a child with congenital partial deficiency of leucocyte adherence glycoproteins

Abstract

Congenital deficiency of beta 2 integrin leucocyte adhesion molecules is a rare immunodeficiency and is often fatal. Neutrophils are unable to bind to ligands on the endothelium, and so cannot leave the circulation during inflammation or infection. When leucocyte adhesion deficiency (LAD) is caused by abnormally low expression of beta 2 integrins, it is termed LAD type 1. We describe a 5-year-old girl with a history of recurrent bacterial infections since early childhood who developed necrotic skin ulcers resembling pyoderma gangrenosum and a persistent circulating neutrophilia. Histologically, the lesions showed deep ulceration with a diffuse lymphohistiocytic infiltrate, but with a relative sparsity of neutrophils. Subsequent investigation revealed a complete absence of CD11a/CD18 beta 2 integrins on the surface of the patient's neutrophils, confirming the diagnosis of LAD type 1. The ulcers responded to treatment with oral prednisolone and colchicine.

Pathophysiology of pyoderma gangrenosum (PG): An updated review

“…26 Histology demonstrated a paucity of neutrophils in the ulcer. 25 PG has also been described in a case of neutropenia, 27 suggesting a multifactorial origin.…”

Infections in Patients with Inherited Defects in Phagocytic Function

“…Necrotizing and ulcerative soft tissue infections, often requiring surgical drainage, are common. Pyoderma gangrenosum has been found in patients with LAD 1 (29). Periodontal disease may be severe, leading to bone erosion requiring dental extractions.…”

CD18 deficiency evolving to megakaryocytic (M7) acute myeloid leukemia: Case report

“…2). Nevertheless, she return to her home town after being misdiagnosed and treated for Behçet's disease with prednisone and colchicine, which resulted in partial improvement of the ulcers [18]. A blood cell count obtained one year later in other service presented thrombocytosis (between 6 × 10 5 and 10 6 platelets/mL) as well as leukocytosis, suggesting the development of a myeloproliferative syndrome not evident at that time.…”