Giant congenital juvenile xanthogranuloma

Giant congenital juvenile xanthogranuloma - Case Report - Arch Dis Child April 2013 Vol 98 No 4 317

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, afirm, 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 cellfibroblastoma, 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 Neri
3
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 toDr Massimiliano Galeone, Department of Critical Care
Medicine and Surgery, Division of Dermatology, University of Florence, Piazza
Indipendenza, 11, Florence 50129, Italy; [email protected]
ContributorsSB: analysis and interpretation of data, andfinal approval. GC:
analysis and interpretation of data, andfinal approval. MG: drafting the article and
final approval. RB: conception and design, andfinal approval. AP: conception and
design, andfinal approval. IN: conception and design, andfinal approval.
FundingNone.
Competing interestsNone.
Patient consentObtained.
Provenance and peer reviewNot commissioned; externally peer reviewed.
To citeBerti S, Coronella G, Galeone M,et al.Arch Dis Child2013;98:317.
Received 4 November 2012
Accepted 19 November 2012
Published Online First 12 December 2012
Arch Dis Child2013;98
doi:10.1136/archdischild-2012-303338
REFERENCES
1 Hernandez-Martin A, Baselga E, Drolet BA,et al. Juvenile xanthogranuloma.JAm
Acad Dermatol1997;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 Dermatol2007;32:613–14.
3 Ceyhan AM, Aynali G, Chen W,et al. Congenital giant juvenile xanthogranuloma
initially masquerading as hemangioma.Eur J Dermatol2011;21:431–3.
4 Yazganoglu KD, Erdem Y, Buyukbabani N,et al. A giant congenital plaque.Pediatr
Dermatol2012;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 Cancer2008;51:713–14.
Figure 1Yellowish plaque with a peau d’
erythematous rim on the right mandibular region.
Figure 2After 18 months, the lesion partially resolved leaving
residual hyperpigmentation and slight atrophy.
Arch Dis ChildApril 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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