Tuberc Respir Dis.  2009 Oct;67(4):345-350.

Erdheim-Chester Disease with Hepatitis, Glomerulonephritis, Aplastic Anemia and Lung Involvement

• Park JW
• Chung CU
• Shin JY
• Jung SY
• Yoo SJ
• Lee JE
• Jung SS
• Kim JO
• Kim SY
• Park HS

Abstract

Erdheim-Chester disease (ECD) is a proliferative non-Langerhans cell histiocytosis of multiple organs. This is a rare disease of unknown etiology with a high mortality. We present the case report of a 26-year-old man diagnosed with ECD. He was referred to our hospital with elevated levels of aminotransferases. Although the diagnosis was uncertain, the patient was lost to follow up at that time. One year later, the patient returned to the hospital with generalized edema. Although a specific bone lesion was not found, the patient was experiencing the following: glomerulonephritis, aplastic anemia, hepatitis, and lung involvement. A lung biopsy was performed: the immunohistochemical stain were positive for CD68 and negative for S-100 protein and CD1a. We diagnosed as the patient as havinf ECD. Approximately 50% of ECD cases present with extraskeletal involvement. ECD should be considered as part of the differential diagnosis when multiple organs are involved.

Keyword

Erdheim-Chester disease; Glomerulonephritis; Aplastic anemia; Hepatitis; Lung involvement

MeSH Terms

Adult
Anemia, Aplastic
Biopsy
Diagnosis, Differential
Edema
Erdheim-Chester Disease
Glomerulonephritis
Hepatitis
Histiocytosis
Humans
Lost to Follow-Up
Lung
Rare Diseases
S100 Proteins
Transaminases
S100 Proteins
Transaminases

Figure

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  Figure 1 Kidney biopsy of the patient show diffuse thickening of capillary wall with focal endocapillary proliferation (H&E stain, ×400).

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  Figure 2 Liver biopsy of the patient show chronic hepatitis with mild lobular activity, mild porto-periportal activity and periportal fibrosis (Masson's trichrome stain, ×400).

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  Figure 3 Chest PA on hospital day and Chest HRCT of the patient. Chest radiology show multifocal nodular consolidation and patchy ground glass opacity with air bronchogram and interlobular septal thickening.

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  Figure 4 Lung biopsy of the patient show expansion of visceral pleura. And microscopic finding demonstrates aggregation of histiocytes and fibrosis in interlobular septa and perivascular area (H&E stain, ×100).

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  Figure 5 The infiltrated histiocytes in the lung confirmed by immunohistochemical stain. These showed positive for CD68 (A) and negative for S-100 (B) protein and CD1a (C). Those means the histiocyte were not originated from the Langerhans cell (×200).

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