Clinical Challenge: Bump Under Nose

Juvenile xanthogranuloma (JXG) was first described by Adamson in 1905 as one of the non-Langerhans cell histiocytic (LCH) proliferative disorders.1 Approximately 15% to 20% of patients have JXG lesions at birth, with an estimated 75% occurring during the first year of...

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Juvenile xanthogranuloma (JXG) was first described by Adamson in 1905 as one of the non-Langerhans cell histiocytic (LCH) proliferative disorders.¹ Approximately 15% to 20% of patients have JXG lesions at birth, with an estimated 75% occurring during the first year of life.² Because of its benign and spontaneously resolving nature, the true incidence is difficult to surmise.³

The lesions usually present as a solitary yellow-brown papule located on the face, head, neck, or trunk.⁴ Oral lesions are rare and may be verrucous, umbilicated, or fibroma-like papules on the tongue, gingival, buccal mucosa, and midline hard palate.² Ocular involvement is the most common extracutaneous site affecting the iris or eyelid. Multiple lesions occur in roughly 7% of cases and predominantly occur in male infants less than 6 months old.⁴

Definitive diagnosis is made histologically.⁵ The morphologic feature used to differentiate JXG from LCH is the presence of grooved vesicular nuclei with coffee bean appearance found in LCH. Additionally, immunohistochemistry of LCH cells is positive for CD1a and S-100 antigen expression, whereas the cells of JXG are negative for these markers.⁶ The characteristic multinucleated giant cell (Touton cell) appears garland-like and is observed in 85% of cases.²

A characteristic dermoscopic feature is a red-yellow center surrounded by a discrete erythematous halo, described as a “setting sun” pattern.⁷ Fine and branched telangiectasias may also be observed.

The etiology of JXG is unknown; an infectious or physical stimulus is believed to provoke the granulomatous histiocytic reaction.⁸ In rare cases, JXG may be associated with systemic conditions such as neurofibromatosis type 1 (NF1) and juvenile myelomonocytic leukemia.⁴ The disorder can be the presenting sign of NF1, with up to 18% of patients with NF1 less than 3 years of age concurrently having JXG.⁵

In patients with exclusively cutaneous involvement, prognosis is excellent with spontaneous remission occurring in months to a few years. Surgical removal is considered only for cosmetic purposes.⁹ Management of noncutaneous (internal) lesions poses greater difficulty and may include any combination of surgery, chemotherapy, radiotherapy, and immunosuppression.⁸ Patients with JXG who have known cutaneous lesions should be seen regularly and screened for the development of ocular or other noncutaneous lesions.⁵

Alexandra Stroia, BS, is a medical student at the Lake Erie College of Osteopathic Medicine. Stephen Schleicher, MD, is director of the DermDox Dermatology Centers, associate professor of medicine at Geisinger Commonwealth Medical College, and clinical instructor of dermatology at Arcadia University and Kings College.

References

1. Adamson HG. Society intelligence: the dermatological society of London. Br J Dermatol. 1905;17:222-222.

2. Collie JS, Harper CD, Fillman EP. Juvenile xanthogranuloma. In: StatPearls. StatPearls Publishing; August 11, 2021.

3. Rana A, de Waal Malefyt S. An infant who has dome-shaped papules. Pediatr Rev. 2012;33(2):86-88. doi:10.1542/pir.33-2-86

4. Dehner LP. Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations. Am J Surg Pathol. 2003;27(5):579-593. doi:10.1097/00000478-200305000-00003

5. Patel, BCK. Juvenile xanthogranuloma. Medscape. Published February 08, 2019. Accessed March 23, 2022. https://emedicine.medscape.com/article/1209681-overview

6. Gupta B, Yadav S, Khurana N, Sharma M. Juvenile xanthogranuloma in vulva of a 10-year-old child. J Clin Diagn Res. 2016;10(11):ED21 ED22. doi:10.7860/JCDR/2016/22266.8930

7. Xu J, Ma L. Dermoscopic patterns in juvenile xanthogranuloma based on the histological classification. Front Med (Lausanne). 2021;7:618946. doi:10.3389/fmed.2020.618946

8. Szczerkowska-Dobosz A, Kozicka D, Purzycka-Bohdan D, Biernat W, Stawczyk M, Nowicki R. Juvenile xanthogranuloma: a rare benign histiocytic disorder. Postepy Dermatol Alergol. 2014;31(3):197-200. doi:10.5114/pdia.2014.40918

9.  Silva SPD, Viveiros C, Almeida R, Pereira MA, Vaz R, Portela A. Juvenile xanthogranuloma: a case report. Rev Paul Pediatr. 2019;37(2):257-260. doi:10.1590/1984-0462/;2019;37;2;00013