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

Hisanaga, Y.; Akaike, Yasushi; Kuroda, K.

doi:10.1159/000076494

Cited by 8 publications

(3 citation statements)

References 11 publications

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“…In most of the aforementioned cases, distinction is readily achieved on the basis of their differing clinical features; however, by virtue of its similar morphologic features and propensity for widespread involvement, the latter may potentially be confused with ECD. Xanthoma disseminatum is generally characterized as a benign disseminated mucocutaneous xanthomatosis [5]; nevertheless, there are reports of cases bearing overlapping features with ECD, including diabetes insipidus [1,15], and long bone involvement [18], and fatal outcome.…”

Section: Discussionmentioning

confidence: 99%

Systemic Erdheim–Chester disease

et al. 2008

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Erdheim-Chester disease is a rare xanthomatosis that may present with characteristic radiologic and histologic features. There have been conflicting reports regarding the nature of this process, including whether it represents a reactive or neoplastic lesion. We present the clinical histories, pathologic findings, and an analysis of clonality using the HUMARA assay in two patients diagnosed with Erdheim-Chester disease. One case has previously been documented in the literature. Histologically, both cases demonstrated sheets of foamy xanthomatous histiocytes with widespread infiltration of the viscera. These regions were punctuated by variable amounts of inflammation, including lymphocytes, plasma cells, and occasional Touton-type giant cells. The histiocytes were immunoreactive for CD68 and CD163; they did not stain with S100 or CD1a. One case was found to be monoclonal; however, the second case had extensive DNA degradation; thus, clonality could not be assessed. In addition to contributing an additional report of this rare disease to the literature, we demonstrate the histiocytes to express CD163, thereby further supporting a monocyte/macrophage basis. Moreover, in confirming clonality, our observations lend additional evidence to the view that Erdheim-Chester disease represents a neoplastic process.

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Section: Discussionmentioning

confidence: 99%

Systemic Erdheim–Chester disease

et al. 2008

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“…As described above, typical gastric xanthomas are well-demarcated whitish plaques or nodules. Similarly, cases with xanthomas in the sigmoid colon and rectum, showing multiple, well-defined, and whitish-yellow lesions, have been previously reported [4, 5]. Weinstock et al reported a case consistent with xanthoma presenting as flat, yellow, and irregularly shaped lesions in the sigmoid colon [6].…”

Section: Discussionmentioning

confidence: 85%

Two Cases of Rectal Xanthoma Presenting as Yellowish to Whitish Lesions during Colonoscopy

Iwamuro

Tanaka

Takei

et al. 2017

Case Reports in Gastrointestinal Medicine

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Two cases of rectal xanthomas are described. One case is that of a 56-year-old Japanese man in whom multiple yellowish spots measuring approximately 3 to 5 mm were observed in the rectum during colonoscopy. The other case is that of a 78-year-old Japanese man in whom colonoscopy showed a whitish plaque of 4 mm in diameter in the rectum. Biopsy examinations performed on both patients revealed the deposition of xanthoma cells within the rectal mucosa. Within the gastrointestinal tract, xanthomas most frequently arise in the stomach, whereas the colorectum is rarely affected. Despite this infrequency, the two cases indicate that xanthomas should be recalled when yellowish to whitish lesions are observed in the colorectum.

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“…They are most commonly identified incidentally on colonoscopy and usually present as nodules, plaques, or patches [8]. It is rare to see these lesions presenting as masses suspicious for malignancy [9]. Diseases other than xanthomas that present with yellow to white lesions in the colon include pseudomembranous colitis, lipomas, and lymphomas.…”

Section: Discussionmentioning

confidence: 99%

Multiple, Large Colonic Xanthomas Presenting as Intestinal Obstruction

Khan¹,

Mukhtar²,

Zaidi³

et al. 2020

Cureus

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Gastrointestinal (GI) xanthomas are rare entities found incidentally on endoscopy. There have been only a few cases where they presented with symptoms of bowel obstruction. We present a case of an 89-year-old woman with a history of short-gut syndrome due to partial colectomy who had multiple admissions with recurrent nausea/vomiting, abdominal distension, and bloating. She was found to have multiple, large, mass-like xanthomas in the rectosigmoid colon. The unusual location, mass-like lesions, and large size led to luminal narrowing causing the patient to have obstructive symptoms, which is a very unusual presentation of colonic xanthomas as most are discovered incidentally.

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

Cited by 8 publications

References 11 publications

Systemic Erdheim–Chester disease

Systemic Erdheim–Chester disease

Two Cases of Rectal Xanthoma Presenting as Yellowish to Whitish Lesions during Colonoscopy

Multiple, Large Colonic Xanthomas Presenting as Intestinal Obstruction

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