Hand-Schüller-Christian disease and Erdheim-Chester disease: coexistence and discrepancy

Abstract

Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) share similar clinical features and mechanisms. In very rare circumstances, the two diseases coexist in the same patient. Here we report such a patient, who was first diagnosed with Hand-Schüller-Christian disease (HSC), a type of LCH. Several years later, the patient presented with severe exophthalmos and osteosclerosis on radiograph. New biopsy revealed ECD. We also analyze 54 cases of LCH and 6 cases of ECD diagnosed in our hospital, as well as their progression during a follow-up period of 8 years. In five cases of HSC (9.3% of LCH), a triad of central diabetes insipidus, hyperprolactinemia, and pituitary stalk thickening on magnetic resonance imaging (MRI) preceded the typical bone lesions by 4-9 years. In addition, LCH was featured as elevated plasma alkaline phosphatase (ALP), which was normal in ECD. Combined with a literature review, several features are summarized to differentiate ECD from HSC. In patients with diabetes insipidus, concomitant hyperprolactinemia and pituitary stalk thickening on MRI indicate a possible HSC. Additionally, if osteosclerosis is observed in a patient with LCH, the coexistence of ECD should be considered.

Figure 1.

Exophthalmos and skull images. (A): Pituitary stalk thickening on magnetic resonance imaging (arrow). (B): Orbit computed tomography (CT) showed a granuloma (arrow) in the left retrobulbar space, and bilateral thickening of rectus muscles. (C): Diffuse bone destruction and hyperosteogeny in the skull CT. (D, E): The patient suffered from severe exophthalmos (left, 29 mm; right, 24 mm). Bilateral periorbital xanthomas accompanied the exophthalmos.

Figure 2.

Eroded edge, diffuse bone destruction, osteosclerosis, and ground-glass-like hyperosteogeny were viewed clearly on plain radiograph (A), computer reconstructed sagittal computed tomography (CT) (B), and three-dimensional CT (C) images of right femur. Chest radiograph (D) and CT (E) revealed extensive pulmonary fibrosis and thickening of bilateral pleura, including right interlobar fissure.

Figure 3.

Immunohistochemistry. (A): Hematoxylin and eosin (HE) staining of the scalp mass showed Langerhans cells (yellow arrows) were distributed in clusters with eosinophils (blue arrows) infiltration. Immunostaining revealed CD1α (B) and Langerin positive Langerhans cells (brown color) (C). HE staining of the retrobulbar mass showed foamy histiocytes nested in fibrosis (D). Immunostaining revealed CD68+ (E) and Lyso+ (F). Abbreviation: HE, hematoxylin and eosin.