Arch Dis Child doi:10.1136/archdischild-2012-303338
  • Images in paediatrics

Giant congenital juvenile xanthogranuloma

  1. Iria Neri3
  1. 1Department of Critical Care Medicine and Surgery, Division of Dermatology, University of Florence, Florence, Italy
  2. 2Department of Sciences for Woman and Child's Health, University of Florence, Florence, Italy
  3. 3Department of Internal Medicine, Aging and Nephrological Diseases, Dermatology, University of Bologna, Bologna, Italy
  1. 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{at}
  • Received 4 November 2012
  • Revised 4 November 2012
  • Accepted 19 November 2012
  • Published Online First 12 December 2012

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 histiocytes 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).

Figure 1

Yellowish plaque with a peau d'orange surface and an erythematous rim on the right mandibular region.

JXG is the most common form of non-Langerhans cell histiocytosis 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 extracutaneous site affected, but virtually any organ can be involved.1–4 In our patient, systemic examinations revealed no abnormalities, without any lymphadenopathy, hepatosplenomegaly or ophthalmological 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 differential diagnosis of giant JXG includes mastocytoma, rhabdomyosarcoma, giant cell fibroblastoma, juvenile nodular fasciitis, dermatofibrosarcoma protuberans and other soft tissue neoplasms.4 Correct diagnosis is important to avoid unnecessary invasive procedures or aggressive treatments.

Figure 2

After 18 months, the lesion partially resolved leaving residual hyperpigmentation and slight atrophy.


  • 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.


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