Primary immunodeficiencies are rare, inherited diseases, characterized by altered function or absence of immune cells. Among them is
leukocyte adhesion deficiency Type I (LAD-I), an autosomal recessive disorder characterized by primary immunodeficiency, caused by mutations in the ITGB2 gene which produces inability of leucocytes to migrate toward the area of
inflammation and is associated with recurrent life-threatening bacterial and
fungal infections.
Pyoderma gangrenosum (PG) is an uncommon noninfectious neutrophilic
dermatosis, characterized by recurrent, necrotic
ulcers. It is a diagnosis of exclusion and can be challenging and its management is empirical, with local (topical
tacrolimus or intralesional
triamcinolone) or systemic immunosuppressive therapy (oral or intravenous
glucocorticoids,
sulfasalazine, especially in cases associated with
Crohn's disease,
cyclosporine and, recently, anti-
tumor necrosis factor drugs such as
Infliximab,
Etanercept, and
Adalimumab). Though skin ulcerations are common, predominant clinical presentation as PG can often mimic other diseases. It is unusual in children even more in LAD-I. Here, we present a Yemenian family with LAD-I from consanguineous relatives. All patients had history of chronic recurrent skin ulcerations without any
bleeding tendency, associated with persistent neutrophilia and requiring
steroids and
antibiotics. There was no history of delayed cord separation and the condition was initially diagnosed as
epidermolysis bullosa, but successively as PG. LAD-I should be kept in mind while evaluating patients with PG especially in children with persistent neutrophilia in the absence of other rheumatological disorders. Its diagnosis is extremely important from the management perspective, as treating these patients without adequate
antibiotic cover may be fatal, as happened to one of our patient, and these patients often require
hematopoietic stem cell transplantation for permanent cure. Therefore, genetic counseling especially in population with high consanguinity is mandatory.