Type I leucocyte adhesion deficiency in Yemenian family managed with appropriate treatment: A case series.
Carmen CantisaniAhmad Faiq NaqeshbandiMohamed GoldustSalvatore LampitelliFranca CantoresiEzeldeen AlsororiPublished in: Dermatologic therapy (2019)
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.
Keyphrases
- end stage renal disease
- ejection fraction
- chronic kidney disease
- newly diagnosed
- rheumatoid arthritis
- peritoneal dialysis
- prognostic factors
- young adults
- mass spectrometry
- gene expression
- intellectual disability
- bone marrow
- autism spectrum disorder
- transcription factor
- pseudomonas aeruginosa
- liquid chromatography
- patient reported
- duchenne muscular dystrophy
- rheumatoid arthritis patients
- cell adhesion