Xanthoma disseminatum with progressive involvement of the central nervous and hepatobiliary systems

doi:10.1016/0190-9622(90)70218-7

Journal of the American Academy of Dermatology

Volume 23, Issue 2, Part 2, August 1990, Pages 341-346

https://doi.org/10.1016/0190-9622(90)70218-7 Get rights and content

A rapidly progressive disease with multiple organ involvement and symptoms of polyuria and polydipsia developed in a 32-year-old woman, with an initial presentation of xanthoma disseminatum. Within 6 months increasing visual impairment of the right eye developed; a computed tomographic scan revealed multiple cerebral and cerebellar lesions. Progress of her disease resulted in blindness of the right eye, internal hydrocephalus with involvement of both ventricles, and cerebellar ataxia. Ultrasound examination of the abdomen and a subsequent endoscopic retrograde cholangiopancreatographic examination revealed a xanthomatous gallbladder and liver involvement. The gallbladder and liver showed histologic changes compatible with xanthomatosis. The patient died 4 years after the appearance of skin lesions.

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Combined Erdheim-Chester disease and Langerhans cell histiocytosis of skin are both monoclonal: A rare case with human androgen-receptor gene analysis
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Citation Excerpt :
Xanthoma disseminatum commonly affects older children with mucocutaneous infiltration by xanthomatous cells. Diabetes insipidus can be seen in 40% of cases.17 However, the sclerotic bony lesions and clinical findings in our case were not typical for xanthoma disseminatum.18
Erdheim-Chester disease (ECD) is a rare xanthogranulomatous histiocytic disorder. Langerhans cell histiocytosis (LCH) is a proliferative disorder of histiocytes with a phenotype similar to dendritic Langerhans cells. Both are derived from myeloid stem cells in the bone marrow and, thus, can overlap.
We report a rare case of hybrid LCH and ECD of the skin with systemic ECD.
Pathologic examinations and human androgen-receptor gene assay were used to study this case.
A 34-year-old woman presented with recurrent ulcerative skin lesions on both thighs associated with polydipsia and polyuria since childhood. Radiography revealed osteosclerosis of bilateral distal tibias and soft tissue masses of bilateral chest walls and ankles. Pathologically, the chest wall lesions showed dense aggregates of lipid-laden histiocytes, which were CD68⁺/CD163⁺/S100⁻/CD1a⁻. Combined with the clinical and radiographic findings, this xanthogranulomatous infiltrate was consistent with ECD. However, thigh skin showed discrete foci of a xanthogranulomatous infiltrate and S100⁺/CD1a⁺ Langerhans cells with eosinophils. In addition, Birbeck granules were found. Dissected tissues from both ECD and LCH were monoclonal, supporting their neoplastic nature.
Single case report is a limitation.
ECD and LCH may have a close association with divergent differentiation from the same stem cells under different microenvironmental conditions.
Cutaneous infiltrates - non-lymphoid
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^a: From the 2nd Department of Dermatology, University of Vienna.

^b: the Department of Pathology, University of Vienna.

^c: the 1st Department of Gastroenterology and Hepatology, University of Vienna.

^d: the Department of Pediatrics, University of Vienna.

View full text

Xanthoma disseminatum with progressive involvement of the central nervous and hepatobiliary systems

J Invest Dermatol

J Am Acad Dermatol

Xanthoma disseminatum (Montgomery syndrome)

Ann Dermatol Venereol

Xanthomatose cutaneomuqueuse avec diabete insipide (syndrome de Montgomery)

Ann Pediatr (Paris)

Xanthoma dissemation, aspect ultrastructural d’histiocytose X

Bull Soc Fr Dermatol Syph

Xanthoma disseminatum: an unusual form with extension of xanthomatosis changes into muscle

AMA Arch Dermatol Syph

Xanthoma tuberosum: two necropsies disclosing lesions of the central nervous system and other tissues

Arch Dermatol Syph