Ann Dermatol.  2010 Nov;22(4):439-443. 10.5021/ad.2010.22.4.439.

Erdheim-Chester Disease

• Kim MS
• Kim CH
• Choi SJ
• Won CH
• Chang SE
• Lee MW
• Choi JH
• Moon KC

• KMID: 2266183
• DOI: http://doi.org/10.5021/ad.2010.22.4.439

Abstract

Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis of unknown etiology, characterized by multi-organ involvement. ECD is usually diagnosed on the basis of characteristic radiologic and histopathological findings. Lesions may be skeletal and/or extraskeletal in location, and may include the skin, lung, heart, and central nervous system. We describe here a 68-year-old man with multiple yellowish plaques and a pinkish nodule on his face and scalp. He had been previously diagnosed with diabetes insipidus, and recently complained of coughing and dyspnea. Imaging studies showed multiple osteosclerotic lesions of the bones, a moderate amount of pericardial effusion, and multifocal infiltrative lesions in the perirenal space. Histopathological examination of the skin lesions revealed dermal infiltration of foamy histiocytes with multinuclear giant cells. Moreover, laparoscopic biopsy of the perirenal tissue revealed fibrosis with infiltrating foamy histiocytes being CD68-positive and S100-negative. Based on these findings, he was diagnosed with ECD with extraskeletal manifestations, and treated with interferon-alpha.

Keyword

Erdheim-Chester disease; Histiocytosis; Non-Langerhans cell

MeSH Terms

Aged
Biopsy
Central Nervous System
Cough
Diabetes Insipidus
Dyspnea
Erdheim-Chester Disease
Fibrosis
Giant Cells
Heart
Histiocytes
Histiocytosis
Humans
Interferon-alpha
Lung
Pericardial Effusion
Scalp
Skin
Interferon-alpha

Figure

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  Fig. 1 (A, B) Multiple and slightly-raised yellowish plaques on the left temple, forehead and both lower eyelids. (C) A pinkish dome-shaped nodule (approximately 1 cm) on the parietal scalp.

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  Fig. 2 (A) Left temporal lesion showed dermal infiltration of foamy histiocytes with giant cells (H&E, ×100). (B) Scalp lesion also showed infiltrating histiocytes and multiple Touton-type giant cells with dermal fibrosis (H&E, ×100).

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  Fig. 3 X-ray of left femur revealed diffuse osteosclerosis with focal osteolysis in the diaphysis and metaphysis of the left distal femur.

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  Fig. 4 Bone scan showed multiple increased uptakes in both maxillae, mandible, right temporal bone, both radii, both ulnae, both distal femurs, both proximal and distal tibiae, both calcanei, left second rib, right ninth rib, both tenth ribs, left posterior iliac crest and right acetabulum.

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  Fig. 5 (A) The biopsy obtained from perirenal tissue showed an infiltration of numerous histiocytes (H&E, ×100). The histiocytes were CD68-positive (B: ×100) and S100-negative (C: ×100).

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