Systemic xanthohistiocytoma: a variant of xanthoma disseminatum?

Abstract

We present a 66-year-old man who had maculopapular pigmented lesions on the skin of the head, neck and trunk suggesting generalized eruptive histiocytoma (GEH). These lesions had a yellowish centre in a target-like pattern that has not been previously described. The patient suffered from diplopia and had a severe sensorimotor polyneuropathy causing progressive paresis of the limbs. The explorations performed disclosed the presence of specific xanthomatous infiltrates in the skin, lungs, respiratory tract, peripheral nerves and meninges, suggesting xanthoma disseminatum (XD) or juvenile xanthogranuloma. Multiple osteolytic lesions of large bones were also found. The infiltrate was CD68, MAC 387 and factor XIIIa positive and S-100 and CD1 negative. Some cells contained worm-like bodies visible by electron microscopy. Our patient presented clinical and immunohistochemical findings suggestive of GEH, juvenile xanthogranuloma or XD, supporting the idea of a wide spectrum of non-Langerhans cell histiocytosis. These specific target-like xanthomatous lesions seem to be unique for this new variant of XD.

Treatment of xanthoma disseminatum with cyclophosphamide

“…Published cases include reports of syndromes with features overlapping these disorders such a 4‐year‐old boy who presented with clinical, histological and ultrastructural features of generalized eruptive histiocytosis, but subsequently developed xanthomatous lesions and diabetes insipidus consistent with xanthoma disseminatum 13 . In another case, a 66‐year‐old man presented with clinical findings suggestive of generalized eruptive histiocytosis, but subsequently developed widespread systemic involvement consistent with xanthoma disseminatum 14 …”

“…13 In another case, a 66-year-old man presented with clinical findings suggestive of generalized eruptive histiocytosis, but subsequently developed widespread systemic involvement consistent with xanthoma disseminatum. 14 The histopathological characteristics of the various factor XIIIa-positive class II histiocytoses have been reviewed. 15 Lesions comprise either relatively monomorphous or relatively polymorphous collections of five recognizable cell types.…”

Xanthoma disseminatum with Large Plaques Confined to the Back, Pulmonary Involvement and Multiple Intestinal Xanthomas

“…Peripheral airway involvement is very rare compared to upper respiratory tract involvement, which is the most recognized cause of respiratory failure in XD [2, 7]. Recently, a few cases with involvement of small-sized bronchi, which causes a fatal outcome, have been reported [8, 9]. XD is usually benign and is often self-limiting, but pulmonary involvement suggests that the prognosis is poor.…”

A Case of Xanthoma Disseminatum with Spontaneous Resolution over 10 Years: Review of the Literature on Long-Term Follow-Up

“…Juvenile xanthogranuloma is most closely related to XD, but mucous lesions and diabetes insipidus are rare. Also, in the juvenile disease, the xanthogranulomas tend to be few in number, develop in children age younger than 2 years, and resolve completely over 3–6 years [28]. …”