A 1-month-old girl presented with a large congenital lesion on her face. A biopsy revealed it to be a giant congenital juvenile xanthogranuloma (JXG), which is a rare non-Langerhans cell histiocytosis characterized by yellow-brown nodules larger than 20 mm. Systemic exams found no other involvement. Giant JXG usually spontaneously regresses within years without treatment.

1. IMAGES IN PAEDIATRICS
Giant congenital juvenile
xanthogranuloma
CASE REPORT
A 1-month-old otherwise healthy girl was referred to our clinic
for evaluation of a congenital asymptomatic lesion on the face.
Upon physical exam, a firm, sharply marginated, infiltrative,
yellowish plaque measuring 6×4 cms with peau d’orange
surface was evident on the right mandibular region (figure 1).
A 4 mm punch biopsy was performed and histological exam
revealed a diffuse infiltrate of non-foamy mononuclear histio-
cytes with scattered eosinophils within the papillary dermis, and
a scarce amount of Touton cells. Immunohistochemistry was
positive for the histiocytic marker, CD68, and negative for
CD1a and S-100 protein, indicating an origin of
non-Langerhans cells. On this basis, we confirmed the clinical
suspicion of giant congenital juvenile xanthogranuloma ( JXG).
JXG is the most common form of non-Langerhans cell histio-
cytosis characterised by purple-red to yellow-brown papules or
nodules, usually measuring less than 10 mm in diameter.
Lesions larger than 20 mm in diameter are extremely rare and
classified as giant JXG. The eye is the most common extracuta-
neous site affected, but virtually any organ can be involved.1–4
In our patient, systemic examinations revealed no abnormalities,
without any lymphadenopathy, hepatosplenomegaly or ophthal-
mological involvement. In the cases of cutaneous lesions
without visceral involvement, the prognosis is excellent, and a
‘wait-and-see’ strategy is recommended. Spontaneous regression
usually occurs within 6 months to 3 years (figure 2).5
The differ-
ential diagnosis of giant JXG includes mastocytoma, rhabdo-
myosarcoma, giant cell fibroblastoma, juvenile nodular fasciitis,
dermatofibrosarcoma protuberans and other soft tissue neo-
plasms.4
Correct diagnosis is important to avoid unnecessary
invasive procedures or aggressive treatments.
Samantha Berti,1
Giordana Coronella,2
Massimiliano Galeone,1
Riccardo Balestri,3
Annalisa Patrizi,3
Iria Neri3
1
Department of Critical Care Medicine and Surgery, Division of Dermatology,
University of Florence, Florence, Italy
2
Department of Sciences for Woman and Child’s Health, University of Florence,
Florence, Italy
3
Department of Internal Medicine, Aging and Nephrological Diseases, Dermatology,
University of Bologna, Bologna, Italy
Correspondence to Dr Massimiliano Galeone, Department of Critical Care
Medicine and Surgery, Division of Dermatology, University of Florence, Piazza
Indipendenza, 11, Florence 50129, Italy; massimiliano.galeone@gmail.com
Contributors SB: analysis and interpretation of data, and final approval. GC:
analysis and interpretation of data, and final approval. MG: drafting the article and
final approval. RB: conception and design, and final approval. AP: conception and
design, and final approval. IN: conception and design, and final approval.
Funding None.
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
To cite Berti S, Coronella G, Galeone M, et al. Arch Dis Child 2013;98:317.
Received 4 November 2012
Accepted 19 November 2012
Published Online First 12 December 2012
Arch Dis Child 2013;98:317.
doi:10.1136/archdischild-2012-303338
REFERENCES
1 Hernandez-Martin A, Baselga E, Drolet BA, et al. Juvenile xanthogranuloma. J Am
Acad Dermatol 1997;36:355–67.
2 Clayton TH, Mitra A, Holder J, et al. Congenital plaque on the chest. Diagnosis: solitary
giant congenital juvenile xanthogranuloma. Clin Exp Dermatol 2007;32:613–14.
3 Ceyhan AM, Aynali G, Chen W, et al. Congenital giant juvenile xanthogranuloma
initially masquerading as hemangioma. Eur J Dermatol 2011;21:431–3.
4 Yazganoglu KD, Erdem Y, Buyukbabani N, et al. A giant congenital plaque. Pediatr
Dermatol 2012;29:217–18.
5 Dincaslan HU, Emir S, Apaydin S, et al. An infant with giant juvenile xanthogranuloma
presenting as an axillary mass. Pediatr Blood Cancer 2008;51:713–14.Figure 1 Yellowish plaque with a peau d’orange surface and an
erythematous rim on the right mandibular region.
Figure 2 After 18 months, the lesion partially resolved leaving
residual hyperpigmentation and slight atrophy.
Arch Dis Child April 2013 Vol 98 No 4 317
PostScript
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2. doi: 10.1136/archdischild-2012-303338
2012
2013 98: 317 originally published online December 12,Arch Dis Child
Samantha Berti, Giordana Coronella, Massimiliano Galeone, et al.
Giant congenital juvenile xanthogranuloma
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