A case of xanthoma disseminatum: evaluation and monitoring by¹⁸F-fluorodeoxyglucose positron emission tomography/computed tomography

Abstract

Xanthoma disseminatum (XD) is a rare benign histiocytic disorder with extensive mucocutaneous xanthomas that often involves other sites such as the central nervous system (CNS), respiratory tract and abdominal organs. Evaluation of the extent of disease is important because lesions in critical locations may increase morbidity and mortality. However, there are no well-established tools for the evaluation and monitoring of XD. Here, we report a case of XD in a 21-year-old male patient showing skin, mucous membrane, CNS and internal organ involvement. In this case, (18) F-fluorodeoxyglucose positron emission tomography/computed tomography was useful in detecting the extent of the disease and in estimating the therapeutic response.

The Non-Langerhans Cell Histiocytoses (Rare Histiocytoses) – Clinical Aspects and Therapeutic Approaches

“…General remarks and clinical presentation: Xanthoma disseminatum (XD) is a rare benign non-LCH, which mainly involves males between 5 and 25 years, but may occur at any age. The disease is clinically characterized by extended skin and mucosal involvement [100,126], but can also involve other regions such as CNS, respiratory and gastrointestinal tract. The skin lesions consist of yellowish or reddish brown plaques or nodules, which often affect eyelids and joint flexures.…”

“…Similiar to LCH, the pituitary gland may be involved, leading to diabetes insipidus [223]. The clinical course is unpredictable, with spontaneous regression in some patients, or progression over years, leading to severe sequelae in others [100].…”

“…Also, azathioprin, cladribin, and cyclophosphamid together with prednisolone showed some effect [126]. Secondary manifestations due to dyslipoproteinemias must be excluded [15,100].…”

Disseminated intracranial xanthoma disseminatum: a rare case report and review of literature

“…Xanthoma disseminatum (XD) is a rare benign histiocytic proliferating disease of non-Langerhans cell origin [ 1 , 2 ]. It is clinically mainly characterized by a number of symmetrically distributed cutaneous yellow-brown papules, often affecting faces, trunk and limbs.…”