S Leclerc-Mercier1,2,3, D Moshous4,5, B Neven4,5, N Mahlaoui4,6, L Martin7, I Pellier8, S Blanche4,5,6, C Picard4,5,6,9, A Fischer4,5,6,10, P Perot11, M Eloit11,12, S Fraitag1,2, C Bodemer2,3,5. 1. Department of Pathology, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, France. 2. National Reference Centre for Genodermatosis and Rare Diseases of the Skin (MAGEC), Necker-Enfants Malades Hospital, APHP, Paris, France. 3. Department of Dermatology, Necker-Enfants Malades Hospital, APHP, Paris, France. 4. Department of Immunohematology, Necker-Enfants Malades Hospital, APHP, Paris, France. 5. Imagine Institute, Inserm U 1163, Descartes University, Paris Sorbonne Cité, Paris, France. 6. National Reference Centre for Primary Immune Deficiency (CEREDIH), Necker-Enfants Malades Hospital, APHP, Paris, France. 7. Department of Dermatology, UNAM University, Angers University Hospital, Angers, France. 8. Departments of Pediatric Hematology, UNAM University, Angers University Hospital, Angers, France. 9. Study center of primary immunodeficiency, Necker-Enfants Malades Hospital, APHP, Paris, France. 10. Collège de France, Paris, France. 11. Biology of Infection Unit, Institut Pasteur, Inserm U1117, Laboratory of Pathogen Discovery, Paris, France. 12. Ecole Nationale Vétérinaire d'Alfort, Virologie, Maisons Alfort, France.
Abstract
BACKGROUND: Paediatric cutaneous granuloma with primary immunodeficiency (PID) is a rare condition. The physiopathology is unclear, and treatment is challenging. We report on 17 paediatric cases and review the literature. OBJECTIVES: To make dermatologists and dermatopathologists aware of the diagnostic value of skin granulomas in paediatric PID. METHODS: We collected data on 17 patients with cutaneous granulomas and PID registered with us and also reviewed 33 cases from the literature. RESULTS: Cutaneous granuloma was the presenting feature of the PID in 15 of the 50 collated cases. The lesions presented as red-brownish nodules and infiltrated ulcerative plaques, predominantly on the face and limbs. Scleroderma-like infiltration on a single limb was observed in 10% of the cases. The associated PID was ataxia-telangiectasia (52%), combined immunodeficiency (24%), cartilage-hair hypoplasia (6%) and other subtypes (18%). The granulomas were mostly sarcoidal, tuberculoid, palisaded or undefined subtypes. In some patients, several different histopathologic granulomatous patterns were found in the same biopsy. Some granulomas were associated with the presence of a vaccine strain of rubella virus. CONCLUSION: Cutaneous granulomas associated with a PID have a variable clinical presentation. A PID can be suspected when crusty, brownish lesions are found on the face or limbs. The concomitant presence of several histological subtypes in a single patient is suggestive of a PID.
BACKGROUND: Paediatric cutaneous granuloma with primary immunodeficiency (PID) is a rare condition. The physiopathology is unclear, and treatment is challenging. We report on 17 paediatric cases and review the literature. OBJECTIVES: To make dermatologists and dermatopathologists aware of the diagnostic value of skin granulomas in paediatric PID. METHODS: We collected data on 17 patients with cutaneous granulomas and PID registered with us and also reviewed 33 cases from the literature. RESULTS:Cutaneous granuloma was the presenting feature of the PID in 15 of the 50 collated cases. The lesions presented as red-brownish nodules and infiltrated ulcerative plaques, predominantly on the face and limbs. Scleroderma-like infiltration on a single limb was observed in 10% of the cases. The associated PID was ataxia-telangiectasia (52%), combined immunodeficiency (24%), cartilage-hair hypoplasia (6%) and other subtypes (18%). The granulomas were mostly sarcoidal, tuberculoid, palisaded or undefined subtypes. In some patients, several different histopathologic granulomatous patterns were found in the same biopsy. Some granulomas were associated with the presence of a vaccine strain of rubella virus. CONCLUSION:Cutaneous granulomas associated with a PID have a variable clinical presentation. A PID can be suspected when crusty, brownish lesions are found on the face or limbs. The concomitant presence of several histological subtypes in a single patient is suggestive of a PID.
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