Congenital Giant Juvenile Xanthogranuloma in a 3-Month-Old Boy

Abstract

A 3-month-old boy was seen for evaluation of rapidly growing cutaneous orange-yellowish nodular lesions of variable diameters (from millimeters to few centimeters) on the right wall of the chest that had been present since birth (Figure 1, A and B ). The patient was otherwise completely healthy and did not have any trauma history. There was no personal or family history of any skin tumors or infectious diseases. The chest ultrasound examination revealed a well-defined hypoechoic soft tissue mass with polycyclic margins (3 × 2.5 × 1 cm) and polylobulated within the subcutaneous tissue without extension into the underlying muscle (Figure 2, A). The lesion was not compressible. On color Doppler evaluation, there was evidence of many intralesional arterial and venous flow signals (Figure 2, B and Video [available at www.jpeds.com]). The diagnosis of high flow vascular anomaly was unlikely due to poor compressibility and high resistance indices of the lesion on velocimetric analysis. An abdominal ultrasound was negative for similar masses. We excised the lesion and adjacent normal tissue. Histologic examination showed a poorly demarcated, dense infiltrate of histiocytes, admixed with Touton giant cells, lymphocytes, and eosinophils, involving the dermis and the upper subcutis. On the immunohistochemical study, the histiocytes were CD68+, FXIIIa+, S100-, and CD1a- (Figure 3). Given its size (enlarged in <6 weeks) and histopathologic analysis, the lesion was interpreted as a giant juvenile xanthogranuloma (JXG). Spontaneous regression was unlikely, and in view of the rapid growth, we were concerned that waiting would lead to cosmetic and functional problems.1Park Y.W. Koh E.J. Choi H.Y. Rapid-growing juvenile xanthogranuloma on the scalp in 18-month-old girl.J Korean Neurosurg Soc. 2011; 50: 271-273Crossref PubMed Scopus (3) Google Scholar Therefore, we performed an extended excision; the tumor did not recur after resection. JXG, the most common non-Langerhans cell histiocytosis, is a benign self-limited histiocytic proliferative disorder characterized by small yellow-red nodules or papules.1Park Y.W. Koh E.J. Choi H.Y. Rapid-growing juvenile xanthogranuloma on the scalp in 18-month-old girl.J Korean Neurosurg Soc. 2011; 50: 271-273Crossref PubMed Scopus (3) Google Scholar The etiopathology is unknown.2Malika A.L. Richard M.H. giant juvenile xanthogranuloma: case report, literature review and algorithm for classification.J Cutan Med Sure Action. 2018; 22: 488-494Crossref PubMed Scopus (8) Google Scholar The average age of onset is 2 years.3Vignault C. Bourgeault E. Gagné E. Bujold J. A rare case of solitary giant congenital juvenile xanthogranuloma: a case report.J Cutan Med Surg. 2017; 21: 267-269Crossref PubMed Scopus (4) Google Scholar Classic JXG is divided into 2 main clinical subtypes: dome-shapes papules (<0.5 cm) and single/multiple nodules (<2 cm). A rare variant is referred to as giant (lesions larger than 2 cm). Cutaneous lesions are the most common form among classic JXG (67%-71%). The most common extracutaneous sites are subcutaneous or deep soft tissue (15%-16%); they most commonly involve the eye, followed by lung and liver manifestations (4%-5%).2Malika A.L. Richard M.H. giant juvenile xanthogranuloma: case report, literature review and algorithm for classification.J Cutan Med Sure Action. 2018; 22: 488-494Crossref PubMed Scopus (8) Google Scholar Classic JXG has been reported as congenital in 15%-20% of patients. Among giant cases, 45%-50% are congenital.2Malika A.L. Richard M.H. giant juvenile xanthogranuloma: case report, literature review and algorithm for classification.J Cutan Med Sure Action. 2018; 22: 488-494Crossref PubMed Scopus (8) Google Scholar,4Dincaslan H.U. Emir S. Apaydin S. Senel E. An infant with giant juvenile xanthogranuloma presenting as an axillary mass.Pediatr Blood Cancer. 2008; 51: 713-714Crossref PubMed Scopus (5) Google Scholar The course is self-limited over several months to years; it is rare for persistence beyond late childhood.5Ceyhan A.M. Aynali G. Chen W. Kapucuoglu N. Congenital giant juvenile xanthogranuloma initially masquerading as hemangioma.Eur J Dermatol. 2011; 21: 431-433Crossref PubMed Scopus (14) Google Scholar The most common affected areas are the head, neck, and trunk, followed by the proximal extremities.1Park Y.W. Koh E.J. Choi H.Y. Rapid-growing juvenile xanthogranuloma on the scalp in 18-month-old girl.J Korean Neurosurg Soc. 2011; 50: 271-273Crossref PubMed Scopus (3) Google Scholar Histopathologic examination is essential to confirm the diagnosis. JXG must be distinguished from infantile hemangioma. Hypoechogenicity because of fewer interfaces, lower vascular density, and higher arterial resistance indexes are found.5Ceyhan A.M. Aynali G. Chen W. Kapucuoglu N. Congenital giant juvenile xanthogranuloma initially masquerading as hemangioma.Eur J Dermatol. 2011; 21: 431-433Crossref PubMed Scopus (14) Google Scholar Other nodular soft tissue lesions that should be considered are rhabdomyosarcoma, myofibromatosis, leukemia, neuroblastoma metastasis, giant cell fibroblastoma, juvenile nodular fasciitis, dermatofibrosarcoma protuberans, and other soft tissue neoplasms.6Sánchez Yus E. Requena L. Villegas C. Valle P. Subcutaneous juvenile xanthogranuloma.J Cutan Pathol. 1995; 22: 460-465Crossref PubMed Scopus (21) Google Scholar We thank Ludovica Esposito for reviewing the English language of this manuscript. https://www.jpeds.com/cms/asset/50ae5ba9-d8ee-466f-9863-c1db659cfb87/mmc1.mp4Loading ... Download .mp4 (1.92 MB) Help with .mp4 files Video