A Rare Association of Pyoderma Gangrenosum and Hyper-IgE Syndrome (Job-Buckley) in a Child: A case report

 Corresponding author: O.Lafdali Copyright © 2025 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0. A Rare Association of Pyoderma Gangrenosum and Hyper-IgE Syndrome (JobBuckley) in a Child: A case report Oumaima Lafdali *, Safia Echarif , Meriem Aboudourib, Laila Bendaoud, Ouafa Hocar and Said Amal Dermatology and venerology department, Mohamed VI university hospital, Faculty of medicine and pharmacy of Marrakesh, Caddi Ayad university, Marrakesh, Morocco World Journal of Advanced Research and Reviews, 2025, 26(02), 3877–3879 Publication history: Received on 31 March 2025; revised on 21 May 2025; accepted on 24 May 2025 Article DOI: https://doi.org/10.30574/wjarr.2025.26.2.1990 Abstract Background: Hyper-IgE syndrome (Job-Buckley syndrome) is a rare primary immunodeficiency caused by mutations in the STAT3 gene. It is characterized by recurrent severe infections, chronic eczema-like skin lesion, and markedly elevated serum IgE levels. Pyoderma gangrenosum (PG) is an inflammatory neutrophilic dermatosis that is rare in children. Case presentation: We report the case of a 9-year-old boy, followed for dilated cardiomyopathy and diagnosed with Hyper-IgE syndrome since 2021, treated with sulfamethoxazole-trimethoprim. He presented with painful chronic ulcers on both lower limbs, evolving over the course of one year. Clinical examination revealed multiple deep, painful ulcers over the knees and ankles with violaceous raised borders and granulating bases, associated with erythematous, scaly papules resembling atopic dermatitis. Microbiological and laboratory investigations were negative. Histopathological analysis revealed a neutrophilic dermatosis. A diagnosis of pyoderma gangrenosum was made, and treatment with systemic corticosteroids (1 mg/kg/day) was initiated, resulting in favorable clinical evolution without relapse. Conclusion: To our knowledge, this is the first reported case of pyoderma gangrenosum associated with Job-Buckley syndrome. This case highlights the importance of considering PG in immunocompromised children presenting with chronic ulcers. Keywords: Hyper-Ige Syndrome; Job-Buckley Syndrome; Pyoderma Gangrenosum; Neutrophilic Dermatosis; Pediatric Dermatology. 1. Introduction Hyper-IgE syndrome (Job-Buckley) is a rare primary immunodeficiency estimated to affect approximately 1 in 1 million individuals annually[1]. It presents as a triad of recurrent severe infections, eczema-like chronic dermatitis, and markedly elevated serum IgE levels (>2000 IU/mL), often accompanied by eosinophilia and normal levels of other immunoglobulins[2]. Cutaneous features often resemble atopic dermatitis and may appear during infancy, adolescence, or adulthood[3][4]. Pyoderma gangrenosum (PG) is an inflammatory neutrophilic dermatosis that is rarely observed in pediatric populations. It typically manifests as painful, rapidly progressing cutaneous ulcers often mistaken for infectious or ischemic lesions[5]. PG has been reported in association with inflammatory bowel disease, hematological disorders, vasculitis, immunodeficiencies, and autoinflammatory syndromes[6]. However, no cases of PG associated with HyperIgE syndrome have been previously reported. World Journal of Advanced Research and Reviews, 2025, 26(02), 3877–3879 3878 2. Case Report A 9-year-old boy with a known history of dilated cardiomyopathy since the age of one and diagnosed with Hyper-IgE syndrome in 2021, under prophylactic treatment with sulfamethoxazole-trimethoprim, presented with painful chronic ulcers of both lower limbs evolving for the past year. 2.1. Clinical findings Examination revealed multiple deep ulcers overlying the knees and ankles, with violaceous, raised borders and red granulating bases. The lesions were painful and grossly rounded. Additionally, the patient exhibited erythematous, scaly papules and plaques involving the face, skin folds, and trunk—consistent with an atopic-like dermatitis. 2.2. Investigations Bacteriological cultures and blood tests, including inflammatory markers, were negative. Skin biopsy revealed a neutrophilic dermatosis without vasculitis or infectious agents, consistent with pyoderma gangrenosum. 2.3. Treatment and Outcome Systemic corticosteroid therapy was initiated at 1 mg/kg/day of prednisone. Treatment lasted 5 months with gradual tapering. The patient showed significant clinical improvement with complete ulcer healing and no relapse reported upon tapering and cessation of corticosteroids. Figure 1 Multiple deep ulcers overlying the knees and ankles 3. Discussion Hyper-IgE syndrome involves immune dysregulation due to defective STAT3 signaling, impairing Th17 cell function and neutrophil recruitment. This predisposes patients to unusual infections and inflammatory responses. Although PG has been documented in association with various immune defects such as LAD-1 deficiency, RAG1 mutations, and CVID, no previous association with Job-Buckley syndrome has been published to our knowledge [7]. World Journal of Advanced Research and Reviews, 2025, 26(02), 3877–3879 3879 This case suggests a possible link between immune dysregulation in Hyper-IgE syndrome and the emergence of severe inflammatory dermatoses such as PG. Accurate diagnosis of PG is crucial to avoid inappropriate antibiotic use or surgical interventions, and systemic corticosteroids remain the cornerstone of effective treatment in pediatric cases. 4. Conclusion This case represents the first documented association of pyoderma gangrenosum with Hyper-IgE syndrome. It underlines the need to consider PG in children with immunodeficiencies presenting with chronic, non-healing ulcers, and it confirms the efficacy of systemic corticosteroids in achieving remission. Compliance with ethical standards Acknowledgments We thank the medical and nursing staff involved in the care of this patient. Disclosure of conflict of interest The authors declare no conflicts of interest. Funding No external funding was received for this study. Statement of informed consent Informed consent was obtained from all individual participants included in the study. References [1] Hafsi W, Yarrarapu SNS. Job Syndrome. StatPearls [Internet]. 2021. [2] Ismail S, Khurshid F. Hyper Immunoglobulin E (IgE); An Immune Deficiency (Job Syndrome). JSTMU. 2023;6(1):51–53. [3] Sillevis Smitt JH, Kuijpers TW. Cutaneous manifestations of primary immunodeficiency. Curr Opin Pediatr. 2013;25(4):492–497. [4] Yong PF, Freeman AF, Engelhardt KR, et al. An update on the hyper-IgE syndromes. Arthritis Res Ther. 2012;14:228. [5] Bhat RM, Shetty SS, Kamath GH. Pyoderma Gangrenosum in Childhood. Int J Dermatol. 2004;43(3):205–207. [6] Schoch JJ, Tolkachjov SN, Cappel JA, Gibson LE, Davis DMR. Pediatric Pyoderma Gangrenosum: A Retrospective Review. Pediatr Dermatol. 2016;34(1):39–45. [7] Kechichian E, Haber R, Mourad N, et al. Pediatric Pyoderma Gangrenosum: A Systematic Review. Int J Dermatol. 2017.