Infantile systemic juvenile xanthogranuloma case with massive liver infiltration

Abstract

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.

Imaging features of neonatal systemic juvenile xanthogranuloma: a case report and review of the literature

“…This current finding may be similar to a JXG autopsy finding in which histiocytes in the portal tract spilled over into the adjacent lobule. 16 In DWI in the current case, the nodule located on the right liver subcapsular region showed slightly restricted diffusion and curvilinear high intensity was present along the periportal vein. To the best of our knowledge, the MRI appearance of lesions in the liver has not been described previously.…”

Neonatal systemic juvenile Xanthogranuloma with Hydrops diagnosed by Purpura skin biopsy: a case report and literature review

“…JXG typically presents yellow to pink-brown papules and nodules; 16 of the 32 cases presented a typical color (such as yellow and erythematous) [ 1 , 5 , 10 – 12 , 14 – 22 ], with three of the 16 cases subsequently changing to a typical color [ 5 , 12 , 22 ]. Eight cases had atypical skin lesions; one case had purpura (as in our case) [ 23 ], and the others had bluish nodules, ecchymoses, petechiae, blueberry muffin rash, and a mass [ 4 , 6 , 13 , 23 – 27 ]. Six cases had unclear in the details [ 2 , 7 , 28 – 30 , 32 ].…”

Juvenile xanthogranulomas in Asian children

“…The child underwent surgical excision of the cardiac JXG and chemotherapy, and is now 6 years of age and healthy. Mortality is extremely rare but has been reported in infants with central nervous system or massive hepatic involvement 17,18 …”

“…Mortality is extremely rare but has been reported in infants with central nervous system or massive hepatic involvement. 17,18 An important but controversial association of multiple JXGs is JMML, especially in the presence of concomitant NF-1. 19 20 Zvulunov et al reported a 20-32-fold higher risk of developing JMML in patients with NF-1 and concomitant multiple JXG compared to NF-1 alone.…”