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Infantile systemic juvenile xanthogranuloma case with massive liver infiltration

Alicia Rodríguez-Velasco; María del Carmen Rodríguez-Zepeda; Carlos Ortiz-Hidalgo

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Infantile systemic juvenile xanthogranuloma (ISJXG) is an uncommon form of juvenile xanthogranuloma, a non-Langerhans cell proliferation of infancy and early childhood. In a small percentage of patients, the visceral involvement—most commonly to the central nervous system, liver, spleen, or lungs—may be associated with severe morbidity, and eventually fatal outcome. Here we describe the clinical and pathological findings of a 28-day-old girl with ISJXG who died with respiratory distress syndrome. She had few cutaneous lesions but massive liver and spleen infiltration; other affected organs were multiple lymph nodes, thoracic parasympathetic nodule, pleura, pancreas, and kidneys. Additional findings were mild pulmonary hypoplasia and bacteremia. Immunohistochemistry on fixed tissues is the standard for diagnosis. Immunophenotype cells express CD14, CD68, CD163, Factor XIIIa, Stabilin-1, and fascin; S100 was positive in less than 20% of the cases; CD1a and langerin were negative. No consistent cytogenetic or molecular genetic defect has been identified. This case demonstrates that the autopsy is a handy tool, because hepatic infiltration, which was not considered clinically, determined a restrictive respiratory impairment. In our opinion, this was the direct cause of death.


Autopsy, Congenital, Xanthogranuloma, Juvenile, Liver Diseases


Chang LK, Weiss LM. Other histiocytic and dendritic cell neoplasms. In: Jaffe ES, Harris NL, Vardiman JW, Campo E, Arber DA, editors. Hematopathology. Philadelphia: Saunders Elsevier; 2011. p. 835-6. 10.1016/B978-0-7216-0040-6.00053-810.1016/B978-0-7216-0040-6.00053-8.

Dalia S, Shao H, Sagatys E, Cualing H, Sokol L. Dendritic cell and histiocytic neoplasms: biology, diagnosis, and treatment. Cancer Control. 2014;21(4):290-300. 10.1177/107327481402100405.25310210

Dalia S, Jaglal M, Chervenick P, Cualing H, Sokol L. Clinicopathologic characteristics and outcomes of histiocytic and dendritic cell neoplasms: the Moffitt Cancer Center experience over the last twenty five years. Cancers. 2014;6(4):2275-95. 10.3390/cancers6042275.25405526

Isaacs H Jr. Fetal and neonatal histiocytoses. Pediatr Blood Cancer. 2006;47(2):123-9. 10.1002/pbc.20725.16416419

Chu AC. The confusing state of the histiocytosis. Br J Dermatol. 2000;143(3):475-6.10971316

Zelger BWH, Sidoroff A, Orchard G, Cerio R. Non-Langerhans cell histiocytosis: a new unifying concept. Am J Dermatopathol. 1996;18(5):490-504. 10.1097/00000372-199610000-00008.8902096

Jaffe R, Fletcher CDM, Burgdorf W. Disseminated juvenile xanthogranuloma. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al., editors. WHO Classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon: International Agency for Research on Cancer; 2008. p. 366-7.

Janssen D, Harms D. Juvenile xanthogranuloma in childhood and adolescence: a clinicopathologic study of 129 patients from the Kiel Pediatric Tumor Registry. Am J Surg Pathol. 2005;29(1):21-8. 10.1097/01.pas.0000147395.01229.06.15613853

PubMed Help [Internet]. Bethesda: National Center for Biotechnology Information; 2005 [cited 2015 Apr 23]. Available from:

Freyer DR, Kennedy R, Bostrom BC, Kohut G, Dehner LP. Juvenile xanthogranuloma: forms of systemic disease and their clinical implications. J Pediatr. 1996;129(2):227-37. 10.1016/S0022-3476(96)70247-0.8765620

Unuvar E, Devecioglu O, Akcay A, et al. Successful therapy of systemic xanthogranuloma in a child. J Pediatr Hematol Oncol. 2007;29(6):425-7. 10.1097/MPH.0b013e318064515e.17551409

Haughton AM, Horii KA, Shao L, Daniel J, Nopper AJ. Disseminated juvenile xanthogranulomatosis in a newborn resulting in liver transplantation. J Am Acad Dermatol. 2008;58(2, Suppl):S12-5. 10.1016/j.jaad.2007.09.012.18191690

Chantorn R, Wisuthsarewong W, Aanpreung P, Sanpakit K, Manonukul J. Severe congenital systemic juvenile xanthogranuloma in monozygotic twins. Pediatr Dermatol. 2008;25(4):470-3. 10.1111/j.1525-1470.2008.00752.x.18789091

Papadakis V, Volonaki E, Katsibardi K, et al. A rare case of neonatal systemic xanthogranulomatosis with severe hepatic disease and metachronous skin involvement. J Pediatr Hematol Oncol. 2012;34(3):226-8. 10.1097/MPH.0b013e3182203086.22031119

Dehner LP. Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations. Am J Surg Pathol. 2003;27(5):579-93.12717244

Hu WK, Gilliam AC, Wiersma SR, Dahms BB. Fatal congenital systemic juvenile xanthogranuloma with liver failure. Pediatr Dev Pathol. 2004;7(1):71-6. 10.1007/s10024-003-4040-3.15255037

Azorín D, Torrelo A, Lassaletta A, et al. Systemic juvenile xanthogranuloma with fatal outcome. Pediatr Dermatol. 2009;26(6):709-12. 10.1111/j.1525-1470.2009.01018.x.20199446

Kolivras A, Theunis A, Saint-Aubain N, et al. Congenital disseminated juvenile xanthogranuloma with unusual skin presentation and renal involvement. J Cutan Pathol. 2009;36(6):684-8. 10.1111/j.1600-0560.2008.01101.x.19515049

Takeuchi M, Nakayama M, Nakano A, Kitajima H, Sawada A. Congenital systemic juvenile xanthogranuloma with placental lesion. Pediatr Int. 2009;51(6):833-6. 10.1111/j.1442-200X.2009.02932.x.20158626

Santiago J, Martinez-Garcia E, Giron J, Salcedo C, Perez-Gallardo A. Prophylactic recombinant factor VIIa administration to an infant with congenital systemic juvenile xanthogranuloma. Paediatr Anaesth. 2006;16(9):974-6. 10.1111/j.1460-9592.2006.02009.x.16918661

Barroca H, Farinha NJ, Lobo A, Monteiro J, Lopes JM. Deep-seated congenital juvenile xanthogranuloma: report of a case with emphasis on cytologic features. Acta Cytol. 2007;51(3):473-6. 10.1159/000325771.17536559

Hu WK, Gilliam AC, Wiersma SR, Dahms BB. Fatal congenital systemic juvenile xanthogranuloma with liver failure. Pediatr Dev Pathol. 2004;7(1):71-6. 10.1007/s10024-003-4040-3.15255037

Nakatani T, Morimoto A, Kato R, et al. Successful treatment of congenital systemic juvenile xanthogranuloma with Langerhans cell histiocytosis-based chemotherapy. J Pediatr Hematol Oncol. 2004;26(6):371-4. 10.1097/00043426-200406000-00007.15167350

Yu H, Kong J, Gu Y, Ling B, Xi Z, Yao Z. A child with coexistent juvenile xanthogranuloma and Langerhans cell histiocytosis. J Am Acad Dermatol. 2010;62(2):329-32. 10.1016/j.jaad.2009.02.028.19969387

Bains A, Parham DM. Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: A case and review of recent developments. Pediatr Dev Pathol. 2011;14(6):480-4. 10.2350/10-12-0950-CR.1.21793710

Allen C, McClain K. Juvenile xanthogranuloma [Internet]. 2015 [cited 2015 Apr 23]. Available from:

Zaremba J, Zaczkiewicz A, Placek W. Eruptive xanthomas. Postepy Dermatol Alergol. 2013;30(6):399-402. 10.5114/pdia.2013.39439.24494004

Sonoda T, Hashimoto H, Enjoji M. Juvenile xanthogranuloma: clinicopathologic analysis and immunohistochemical study of 57 patients. Cancer. 1985;56(9):2280-6. 10.1002/1097-0142(19851101)56:9<2280::AID-CNCR2820560923>3.0.CO;2-L.3931900

Nascimento AG. A clinicopathologic and immunohistochemical comparative study of cutaneous and intramuscular forms of juvenile xanthogranuloma. Am J Surg Pathol. 1997;21(6):645-52. 10.1097/00000478-199706000-00003.9199641

Fan R, Sun J. Neonatal systemic juvenile xanthogranuloma with ominous presentations and successful treatment. Clin Med Insights Oncol. 2011;5:157-61. 10.4137/CMO.S6686.21695102

Chantranuwat C. Systemic form of juvenile xanthogranuloma: Report of a case with liver and bone marrow involvement. Pediatr Dev Pathol. 2004;7(6):646-8. 10.1007/s10024-004-1012-1.15630537

Favara BE. Histopathology of the liver in histiocytosis syndromes. Pediatr Pathol Lab Med. 1996;16(3):413-33. 10.1080/15513819609168681.9025843

Chang MW. Update on juvenile xanthogranuloma: unusual cutaneous and systemic variants. Semin Cutan Med Surg. 1999;18(3):195-205. 10.1016/S1085-5629(99)80017-0.10468039

Jaffe R. Liver involvement in the histiocytic disorders of childhood. Pediatr Dev Pathol. 2004;7(3):214-25. 10.1007/s10024-003-9876-z.15022067

Grenko RT, Sickel JZ, Abendroth CS, Cilley RE. Cytologic features of deep juvenile xanthogranuloma. Diagn Cytopathol. 1996;15(4):329-33. 10.1002/(SICI)1097-0339(199611)15:4<329::AID-DC15>3.0.CO;2-Q.8982590

Gutiérrez Martín A, Pérez Barrios A, Vaillo Vinagre A, De Agustín De Agustín P. Neonatal juvenile xanthogranuloma: report of a case with fine needle aspiration cytologic findings in a soft tissue mass. Acta Cytol. 2000;44(3):385-8.10833996

Amouri M, Gouiaa N, Chaaben H, et al. Disseminated juvenile xanthogranuloma expressing protein S100. Ann Dermatol Venereol. 2012;139(2):128-31. 10.1016/j.annder.2011.10.408.22325752








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