Juvenile xanthogranuloma D76.3

Benign, predominantly integumentary, less frequently systemic, self-healing, granulomatous disease of unclear etiology.

Most common disease within the group of juvenile non-Langerhans cell histiocytoses.

Associations with peripheral neurofibromatosis (NF type I) or juvenile chronic myeloid leukemia have been described.

In up to 50% of patients with NF type I, a juvenile xanthogranuloma gfls. together with a N. anaemicus is found in addition to the typical café-au-lait spots (Ferrari F et al. 2014).

In 40-70% of patients, skin lesions appear already in the 1st year of life.

Predominantly begins within the first year of life (about 80% of cases)

Occurs in 5-17% of cases at birth.

Can (very rarely) occur in adulthood (20-30 years).

Predominantly solitary, more rarely multilocular or disseminated, soft, elastic, initially red, later yellow or skin-colored, usually completely asymptomatic papules, plaques or nodules (usually 1-3 cm Ø) with a smooth or slightly wrinkled, scale-free surface. The isolated giant xanthogranuloma may grow larger than 5 cm.

JXG occurs with higher than average frequency (in about 3% of cases) together with type I neurofibromatosis (NF1) (Miraglia E et al. 2022).

Epidermis flattened, no epidermotropism. Dense infiltrates in papillary and reticular dermis consisting of histiocytes, foam cells, and giant Touton-type cells. Focal lymphohistiocytic infiltrates and neutrophilic and eosinophilic granulocytes. Infiltration of deeper tissues such as fascia and muscle common (30-40% of cases).

Immunohistology: Stabilin-1(MS-1/HMWP), CD68 positive multinucleated cells and CD163 positive histiocytes(S100, CD1a negative).

Tuberous xanthomas: adult onset.

Cutaneous mastocytoma: Analogous clinical picture. Darier's sign positive.

Urticaria pigmentosa xanthelasmoidea.

Langerhans cell histiocytosis (eosinophilic granuloma): mostly osteolytic bone lesions; skin rarely affected; histology is demonstrative.

If neurofibromatosis generalisata type I is also present, the risk of developing juvenile chronic leukemia is 20-30 times higher.

Spontaneous regression possible between the ages of 1 and 6 years (40% of cases). Healing with residual pigmentation, on the capillitium possibly with alopecia.

Excision of single nodules if necessary, especially in case of disturbing localization (e.g. eye).

Alternative: treatment with CO ₂ laser.

In case of rapid progression systemic glucocorticoids, e.g. prednisolone (e.g. Solu Decortin H) 10 mg/day p.o., especially in case of eye involvement to prevent glaucoma or loss of vision.

1. Adamson NF (1905) Congenital xanthoma multiplex in a child. Br J Dermatol 17: 222-223
2. Mc Donagh JER (1909) Spontaneous disappearance of an endothelioma (nevo-xanthoma). Br J Dermatol 21: 254-256
3. Dehen L et al (1990) Xanthogranuloma, type I neurofibromatosis and myelomonocytic leukemia with spontaneous regression. Ann Dermatol Venereol 117: 812-814
4. Dehner LP (2003) Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations. Am J Surg Pathol 27: 579-593
5. Ferrari F et al (2014) Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. JAMA Dermatol 150:42-46.
6. Hügel H (2006) Fibrohistiocytic skin tumors. J Dtsch Dermatol Ges 4: 544-555.
7. Jung T (2000) Congenital manifestations of juvenile xanthogranuloma (large nodular form). Dermatologist 51: 423-426
8. Margulis A (2003) Juvenile xanthogranuloma invading the muscles in the head and neck: clinicopathological case report. Ann Plast Surg 50: 425-428.
9. Miraglia E et al (2022) Juvenile xanthogranuloma in neurofibromatosis type 1. Prevalence and possible correlation with lymphoproliferative diseases: experience of a single center and review of the literature. Clin Ter 173:353-355.
10. Müller P (1995) Juvenile xanthogranuloma. Z Hautkr 70: 73-74
11. Torok E et al (1985) Juvenile xanthogranuloma: an analysis of 45 cases by clinical follow-up, light and electron microscopy. Acta Derm Venereol 65: 167-169
12. Utikal J et al (2003) Cutaneous non-Langerhans' cell histiocytoses. J Dtsch Dermatol Ges 1: 471-491
13. Wolff HH et al (1975) Juvenile xanthogranuloma and organ manifestations. Dermatol 26: 268-272
14. Zvulunov A et al (1995) Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis. Arch Dermatol 131: 904-908.