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  • Presentation

Treating the "Outsides" of the Inpatient: Pediatric Consults for the General Dermatologist

Description

Dr. Remy Shrabi, a pediatric dermatologist, presents complex cases highlighting challenges in pediatric dermatology. The first case involves a 13-year-old girl with multiple abscesses that led to a diagnosis of A1 antitrypsin deficiency-associated neutrophilic paniculitis, characterized by painful subcutaneous nodules, with treatment including dapsone and lifestyle modifications. The second case features a 6-year-old boy with psoriasis and joint pain who developed severe complications including respiratory failure, ultimately diagnosed with cytophagic histiocytic panniculitis and hemophagocytic lymphohistiocytosis (HLH) after comprehensive analysis showing macrophage activation and cytopenias. Despite aggressive treatment, he unfortunately passed away. The final case is about a 4-year-old boy with a 2-month history of blistering skin lesions, diagnosed with childhood bullous pemphigoid, treated with systemic corticosteroids and potentially benefiting from immunomodulatory therapies. Overall, early diagnosis and a multidisciplinary approach are emphasized as vital for managing these rare and challenging dermatological conditions.

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Conclusions

  • A1 antitrypsin deficiency can manifest with dermatological symptoms such as painful erythematous and ulcerative subcutaneous nodules and plaques.
  • Early diagnosis through serum AAT concentration measurement and genetic testing is crucial for effective management.
  • Dapsone remains a cost-effective first-line treatment for AATD-associated panniculitis, while intravenous AAT augmentation therapy is the most efficacious approach, particularly in refractory cases.
  • Cytophagic Histiocytic Panniculitis (CHP) is a rare diagnosis associated with systemic symptoms and can progress to Hemophagocytic Lymphohistiocytosis (HLH).
  • Early recognition and aggressive immunosuppressive treatment, including high-dose steroids, are critical for improving outcomes in patients with CHP and HLH.
  • Childhood bullous pemphigoid is a rare autoimmune blistering disorder characterized by subepidermal blister formation due to autoantibodies targeting BP180 and BP230.
  • Management of childhood bullous pemphigoid requires close follow-up, lab monitoring, and treatment with systemic corticosteroids and other immunomodulatory therapies.
  • Johnson, E. F., Tolkachjov, S. N., & Gibson, L. E. (2018). Alpha-1 antitrypsin deficiency panniculitis: clinical and pathologic characteristics of 10 cases. International journal of dermatology, 57(8), 952-958. https://doi.org/10.1111/ijd.14012.
  • Franciosi, A. N., Ralph, J., O'Farrell, N. J., Buckley, C., Gulmann, C., O'Kane, M., Carroll, T. P., & McElvaney, N. G. (2022). Alpha-1 antitrypsin deficiency-associated panniculitis. Journal of the American Academy of Dermatology, 87(4), 825-832. https://doi.org/10.1016/j.jaad.2021.01.074
  • Blanco, I., Lipsker, D., Lara, B., & Janciauskiene, S. (2016). Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency: an update. The British journal of dermatology, 174(4), 753-762. https://doi.org/10.1111/bjd.14309
  • Henter JI. Hemophagocytic Lymphohistiocytosis. The New England Journal of Medicine. 2025;392(6):584-598. doi:10.1056/NEJMra2314005.
  • Aronson IK, Worobec SM. Cytophagic Histiocytic Panniculitis and Hemophagocytic Lymphohistiocytosis: An Overview. Dermatologic Therapy. 2010 Jul-Aug;23(4):389-402. doi:10.1111/j.1529-8019.2010.01339.x.
  • Merelli M, Quartuccio L, Bassetti M, et al. Efficacy of Intravenous Cyclosporine in a Case of Cytophagic Histiocytic Panniculitis Complicated by Haemophagocytic Syndrome After Visceral Leishmania Infection. Clinical and Experimental Rheumatology. 2015 Nov-Dec;33(6):906-9.
  • Behrens EM, Kreiger PA, Cherian S, Cron RQ. Interleukin 1 Receptor Antagonist to Treat Cytophagic Histiocytic Panniculitis With Secondary Hemophagocytic Lymphohistiocytosis. The Journal of Rheumatology. 2006;33(10):2081-4.
  • Bader-Meunier B, Fraitag S, Janssen C, et al. Clonal Cytophagic Histiocytic Panniculitis in Children May Be Cured by Cyclosporine A. Pediatrics. 2013;132(2):e545-9. doi:10.1542/peds.2012-3256.
  • Favara BE. Hemophagocytic Lymphohistiocytosis: A Hemophagocytic Syndrome. Seminars in Diagnostic Pathology. 1992;9(1):63-74.
  • Kikuchi A, Singh K, Gars E, Ohgami RS. Pathology Updates and Diagnostic Approaches to Haemophagocytic Lymphohistiocytosis. Histopathology. 2022;80(4):616-626. doi:10.1111/his.14591.
  • Fisler, R. E., Saeb, M., Liang, M. G., Howard, R. M., & Mckee, P. H. (2003). Childhood bullous pemphigoid: a clinicopathologic study and review of the literature. The American Journal of dermatopathology, 25(3), 183-189. https://doi.org/10.1097/00000372-200306000-00001.
  • Schwieger-Briel, A., Moellmann, C., Mattulat, B., Schauer, F., Kiritsi, D., Schmidt, E., Sitaru, C., Ott, H., & Kern, J. S. (2014). Bullous pemphigoid in infants: characteristics, diagnosis and treatment. Orphanet journal of rare diseases, 9, 185. https://doi.org/10.1186/s13023-014-0185-6
  • Patsatsi, A., Kyriakou, A., & Werth, V. P. (2019). Bullous pemphigoid in adolescence. Pediatric dermatology, 36(2), 184-188. https://doi.org/10.1111/pde.13717.
  • Ghaoui, N., & Hamie, L. (2024). Effect of clarithromycin in a case of infantile bullous pemphigoid. Pediatric dermatology, 41(2), 364-365. https://doi.org/10.1111/pde.15513
  • Gajic-Veljic, M., Nikolic, M., & Medenica, L. (2010). Juvenile bullous pemphigoid: the presentation and follow-up of six cases. Journal of the European Academy of Dermatology and Venereology: JEADV, 24(1), 69-72. https://doi.org/10.1111/j.1468-3083.2009.03264.x
  • Baroero, L., Coppo, P., Bertolino, L., Maccario, S., & Savino, F. (2017). Three case reports of post immunization and post viral Bullous Pemphigoid: looking for the right trigger. BMC pediatrics, 17(1), 60. https://doi.org/10.1186/s12887-017-0813-0
  • de la Fuente, S., Hernández-Martín, Á., de Lucas, R., González-Enseñat, M. A., Vicente, A., Colmenero, I., González-Beato, M., Suñol, M., & Torrelo, A. (2013). Postvaccination bullous pemphigoid in infancy: report of three new cases and literature review. Pediatric dermatology, 30(6), 741-744. https://doi.org/10.1111/pde.12231