The disease begins with the appearance of pink, reddish-gray macules that rapidly progress to papules, plaques, and nodules. These lesions are moderately firm and elastic to palpation, have well-defined borders, and are often surrounded by a peripheral pink halo. At the onset of the disease, the color of the eruptions ranges from pink to reddish-brown, later becoming pale yellow, orange, and brown with varying shades.

The surface of the lesions is usually smooth, sometimes with prominent skin patterns. Telangiectasias may be observed on the larger formations, and in some cases erosion and ulceration may occur. The most common sites of eruption are scalp, face, neck, upper chest, and less commonly upper and lower extremities and genitalia. Unusual manifestations include eruptions with hyperkeratosis, subcutaneous nodules, and clustered plaques.

In some patients, "Café au lait" patches may be observed, which may indicate an association with neurofibromatosis.

The disease follows a chronic course, with spontaneous involution of the lesions usually occurring within 1-6 years (average 2-3 years). The involution of the lesions begins with central depression and slight softening, eventually leading to shrinkage and disappearance. Hypo- and/or hyperpigmented patches, mild atrophy, or anetoderma may remain.

Small nodular form

Characterized by the emergence of small dome-shaped papules measuring 2-5 mm in diameter, scattered throughout the body. In most cases, multiple eruptions are observed, sometimes reaching hundreds. It is more commonly found in children. Disseminated forms have also been described.

Large nodular form

This is the most common variant of juvenile xanthogranuloma, appearing at any age. It presents as the eruption of one or several nodules measuring 1-2 cm in diameter. Among adults, a single nodule is more frequently observed.

Plaque form

Characterized by the appearance of single or multiple flat plaques of yellow or orange color, often with irregular borders, sometimes reaching large sizes. Symmetrical localization has been reported in some cases.

Giant form

This rare form of the disease is typically seen in girls under 14 months old. It presents as a nodule larger than 2 cm, often situated in the upper back region. This can be misdiagnosed as a juvenile hemangioma.

Ulcerative form

This form involves central ulceration of the xanthogranuloma's surface, causing central depression and a crater-like appearance. It is a rare variant of the large nodular or giant forms.

Oral form

Characterized by the presence of a single nodule with a red-yellow color, often found on the lateral surface of the tongue or the midline of the hard palate.

Ocular form

More common in children under 2 years of age, accounting for 10% of cases. It is often unilateral and affects the conjunctiva of the eye, with or without limbal involvement. The combination of ocular and cutaneous forms has been reported in 0.5-1% of cases with single eruptions and up to 40% with multiple eruptions. Common symptoms include conjunctival erythema, photophobia, iris discoloration, and globe enlargement. Serious complications include hyphema (bleeding into the anterior chamber) and glaucoma, which can lead to blindness.

Systemic form

This form occurs in approximately 4% of cases and is associated with cutaneous manifestations in 50% of patients. It is characterized by the formation of granulomas in the muscles, liver, spleen, and lungs. Less commonly, the process may involve bones, testicles and central nervous system, resulting in ataxia, increased intracranial pressure, subdural hemorrhage, developmental delay, non-diabetic diabetes, and other neurologic disorders. Fatal outcomes have been reported in cases of progressive juvenile xanthogranuloma involving the liver in newborns.

The diagnosis is established based on the clinical picture, medical history, and histological examination.

In contrast to X histiocytosis, histiocytes do not tend to penetrate the epidermis, and Langerhans cell granules are not detected by electron microscopy.

• Mastocytoma
• Spitz Nevus
• Xanthomas
• Langerhans cell histiocytosis.
• Congenital self-healing reticulohistiocytosis
• Melanocytic Nevus
• Dermatofibroma
• Cutaneous reticulohistiocytoma.
• Pyogenic Granuloma.