Erdheim-chester disease: A case report with immunohistochemical and biochemical examination

doi:10.1016/S0046-8177(96)90145-8

Human Pathology

Volume 27, Issue 1, January 1996, Pages 91-95

https://doi.org/10.1016/S0046-8177(96)90145-8 Get rights and content

Abstract

This report describes a 47-year-old man with Erdheim-Chester disease (EC), the second case reported in Japan. The patient complained of knee pain, and the roentgenogram of the bilateral legs revealed symmetric osteolytic lesions with sclerosis of the metaphyseal regions of the long bones. Histological examination of the biopsy specimen showed a xanthogranulomatous lesion consisting of aggregations of foamy macrophages and Touton-type giant cells. Immunohistochemical study of the foamy cells in the lesion showed positive reaction to anti-Kp-1, anti-S-100 α, β, anti-neuron-specific enolase (NSE), anti-α-l-antichymotrypsin, anti-α-l-antitrypsin, and anti-lysozyme antibodies. Electron microscopy showed many lipid droplets in the cytoplasm, but no Langerhans granules. These results suggested that the disease was part of the spectrum of histiocytosis but was different from Langerhans cell histiocytosis. Biochemical analysis of material extracted from a lesion showed the predominance of cholesterol ester. The disease progressed to central diabetes insipidus, and the involvement of multiple organs was indicated by a magnetic resonance image.

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Cited by (43)

Erdheim-Chester disease presenting with destruction of a metacarpal
2010, Clinical Radiology
Inflammatory and granulomatous expansive lesions of the pituitary
2009, Best Practice and Research: Clinical Endocrinology and Metabolism
Citation Excerpt :
Even though the pathological hallmark of ECD is infiltration of a wide variety of tissues by cells of macrophage and histiocyte lineage, it appears to be distinct from LCH.101 In fact, histologically, it is an infiltrative process consisting of a preponderance of lipid-laden histiocytes or foam cells intermixed with lymphocytes and eosinophils.103,104 Erdheim–Chester disease is protean in its manifestations, with a course ranging from a focal indolent process to a full-blown, multi-organ and life-threatening condition.
Inflammatory and granulomatous diseases of the pituitary are rare causes of sellar masses. Lymphocytic hypophysitis is the most relevant of these disorders, and it is characterised by autoimmune pathogenesis with focal or diffuse inflammatory infiltration and varying degrees of pituitary gland destruction.
Endocrine symptoms may include partial or total hypopituitarism, with adrenocorticotropic hormone (ACTH) deficiency being the earliest and most frequent alteration.
Pituitary abscess is a rare but potentially life-threatening disease and, in 30–50% of patients, anterior pituitary hormone deficiencies or central diabetes insipidus (DI) at onset may be observed: the earliest manifestation being growth hormone deficiency (GHD), followed by follicle-stimulating hormone (FSH)/luteinising hormone (LH), thyroid-stimulating hormone (TSH) and ACTH deficiencies. Fungal infections of the pituitary are also very rare and include aspergillosis and coccidioidomycosis. Concerning pituitary involvement in systemic diseases, in sarcoidosis endocrine complications are rare, but the hypothalamus and pituitary are the glands most commonly affected. DI is reported in approximately 25–33 % of all neurosarcoidosis cases and is the most frequently observed endocrine disorder. Hyperprolactinaemia and anterior pituitary deficiencies may also occur.
Rarely, partial or global anterior pituitary dysfunction may be present also in Wegener's granulomatosis, either at onset or in the course of the disease, resulting in deficiency of one or more of the pituitary axes. Other forms of granulomatous pituitary lesions include idiopathic giant cell granulomatous hypophysitis, Takayasu's disease, Cogan's syndrome and Crohn's disease. The hypotalamic–pituitary system is involved mainly in children with Langerhans' cells histiocytosis who develop DI, which is the most common endocrine manifestation. Anterior pituitary dysfunction is found more rarely and is almost invariably associated with DI. Pituitary involvement may also be observed in another form of systemic hystiocitosis, that is, Erdheim–Chester disease.
Tuberculosis is a rare cause of hypophysitis, which may present with features of anterior pituitary dysfunction, such as hypopituitarism with hyperprolactinaemia.
In conclusion, in patients with a sellar mass and unusual clinical presentation (DI, neurological symptoms), aggressiveness and onset and in the presence of systemic diseases, inflammatory and granulomatous pituitary lesions should be carefully considered in differential diagnosis.
Intracranial lesion of Erdheim-Chester disease
2007, Human Pathology
Hereditary and sporadic histiocytoses
2004, EMC-Rhumatologie-Orthopedie
La maladie de Gaucher est une affection autosomique récessive due à un déficit en une enzyme lysosomale (bêtaglucocérébrosidase) et est caractérisée par des dépôts de glucosylcéramide dans les cellules hépatiques (hépatomégalie), spléniques (splénomégalie) et dans la moelle osseuse (destruction osseuse, anomalies hématologiques, manifestations articulaires), associés à des anomalies biochimiques (augmentation de l'enzyme de conversion de l'angiotensine, de la ferritine, des phosphatases acides tartrate-résistantes, de la chitotriosidase). Les atteintes neurologiques aiguës ou chroniques (types 2 et 3) comptent pour seulement 5 % des patients atteints de maladie de Gaucher et sont moins fréquentes que les formes non neurologiques (type 1). Le traitement par enzyme de remplacement est actuellement disponible. La maladie de Fabry est une affection métabolique héréditaire due à un déficit de l'α-galactosidase. Les signes et les symptômes sont le résultat de dépôts lipidiques dans de nombreuses cellules. La maladie commence habituellement dans l'enfance et l'adolescence par des crises douloureuses récidivantes, des angiokératomes et une dystrophie cornéenne, puis par une atteinte digestive, cardiaque, rénale et neurologique, qui survient généralement dans les quatrième et cinquième décennies. La maladie de Farber (ou lipogranulomatose) est une affection rare et progressive de l'enfance, autosomique récessive, s'accompagnant de voix rauque, d'articulations gonflées et douloureuses, de nodules sous-cutanés et d'insuffisance respiratoire. La maladie est due à un déficit en céramidase acide lysosomale, responsable d'une accumulation de céramide dans les reins, le foie, les poumons, les ganglions lymphatiques et la peau. Les maladies de Niemann-Pick sont aujourd'hui classées en deux catégories : celles dues à un déficit primitif en sphingomyélinase acide (type A et B) et celle due au déficit d'une protéine régulant le transport intracellulaire du cholestérol LDL (type C). Une infiltration de cellules spumeuses et une organomégalie sont les caractères communs à cet ensemble de pathologies, tandis qu'une atteinte neurologique sévère survient uniquement dans les types A et C, et non dans le type B. La maladie de Chester-Erdheim est une forme exceptionnelle de xanthogranulomatose qui entre dans le cadre des histiocytoses. Des manifestations cardiaques et pulmonaires dues à la libération de cholestérol à partir des cellules spumeuses, des xanthomes plans des paupières, une pyélonéphrite lipogranulomateuse chronique, une atteinte de la glande mammaire et des muscles ont été rapportées. Des douleurs osseuses modérées du squelette sont présentes. Les anomalies radiologiques sont caractéristiques. La réticulohistiocytose multicentrique est une maladie systémique rare d'étiologie inconnue, caractérisée par une polyarthrite symétrique destructrice et de multiples lésions cutanéomuqueuses ; elle peut s'intégrer dans le cadre d'un syndrome paranéoplasique et s'associer à des maladies auto-immunes.
Gaucher’s disease is an autosomal recessive disorder due to a deficit in a lysosomal enzyme (beta-glucocerebrosidase) and is characterized by deposits of glucosylceramide in the cells of the liver (hepatomegaly), spleen (splenomegaly) and bone marrow (osseous destruction, hematologic abnormalities, articular manifestations), associated biochemical abnormalities (increase in angiotensin-converting enzyme, ferritin, tartrate-resistant acid phosphatase and chitotriosidase). Acute or chronic neurological forms (type 2 and 3) account for only 5 % of patients suffering from Gaucher’s disease and are less frequent than the non-neurological forms (type 1). Enzyme replacement therapy is currently available. Fabry’s disease is an inborn error of metabolism caused by the deficiency of α-galactosidase. The signs and symptoms are the result of lipid deposition in numerous cell types. The condition usually begins in childhood or adolescence with recurrent painful crises, angiokeratomas, and corneal dystrophy, then gastrointestinal, cardiac, renal and cerebrovascular problems occur in the fourth and fifth decades of life. Farber’s disease (or lipogranulomatosis) is a rare and progressive disorder of infancy and early childhood transmitted as an autosomal recessive characteristic and accompanied by hoarseness, painful and swollen joints, subcutaneous and pulmonary abnormalities. The disease is due to a deficiency of acid ceramidase activity that leads to an accumulation of ceramide in the kidneys, liver, lungs, and lymph nodes. The Niemann-Pick group of diseases can now be classified into two categories, those with a primary deficiency in acid sphingomyelinase activity (types A and B) and those with defective intra-cellular processing and transport of LDL (type C). Foam cell infiltration and visceromegaly are common features in all cases, whereas severe neurologic involvement occurs only in types A and C, and not in type B. Chester-Erdheim’s disease is an exceptional xanthogranulomatosis which comes within the scope of histiocytosis. Cardiac and pulmonary manifestations caused by liberation of cholesterol from foam cells and xanthomatous patches in the eyelids, chronic lipogranulomatous pyelonephritis, breast and muscle involvement have been reported. Mild local pain and tenderness over areas of skeletal abnormality are noted. Radiographic abnormalities are distinctive. Multicentric reticulohistiocytosis is a rare systemic disease of unknown aetiology, characterized by symmetric destructive polyarthritis and mucocutaneous eruptions in various locations. It may represent a paraneoplastic syndrome, and may associate with autoimmune diseases.
Erdheim-Chester disease with prominent pericardial involvement: Clinical, radiologic, and histologic findings
2002, American Journal of the Medical Sciences
Citation Excerpt :
There have been questions as to whether ECD is a lipid-storage disease, as suspected by Chester, or a primary disorder of monocytes-macrophages.1,11–14 Although lipid-laden cells are found in organs involved with ECD, the disease has not been associated with established abnormalities in lipid metabolism.11,12 Clinical features of ECD range from asymptomatic presentation to extensive organ infiltration and eventual death.1–3,5–11,13–24
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. Herein we describe documented skeletal and pericardial involvement by ECD producing cardiac tamponade in a 30-year-old woman. The diagnosis of ECD was established by histopathology, immunocytochemistry, and by radiologic studies demonstrating diffuse, bilateral, symmetrical osteosclerosis of the long bones, sparing the epiphyses and axial skeleton. Scintography using methyl diphosphonate showed increased uptake in involved bone. The patient presented with jaundice and hepatic congestion produced by cardiac tamponade. Pericardial biopsy revealed xanthogranulomatous lesions comprised of foamy and lipid-laden macrophages, multinucleated giant cells, monocytes, and lymphocytes in a mesh of fibrosis. Immunohistochemical staining was positive for CD68 and negative for CD1a, consistent with ECD rather than with the much more common Langerhans cell form of histiocytosis.
Erdheim-Chester disease of the jaws: Literature review and case report
2000, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
Erdheim-Chester disease is a rare systemic lipogranulomatous disorder of adults that shares some histopathologic features similar to Langerhans’ cell histiocytosis and that results in characteristic radiographic changes in the long bones. Relatively few cases have been reported in the jaws. We present a literature review of jaw cases and the first case report to describe detailed radiographic and pathologic features of jaw involvement, as well as clinical, radiographic, and histopathologic follow-up of the untreated jaw lesions. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2000;90:389-98)

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Case studyErdheim-chester disease: A case report with immunohistochemical and biochemical examination

Abstract

J Biol Chem

J Biol Chem

Erdheim-Chester disease

Erdheim-Chester disease

Radiology

Erdheim-Chester disease: Distinctive lipoidosis or part of the spectrum of histiocytosis?

Radiology

Use of avidin-biotin peroxidase complex (ABC) in immunoperoxidase techniques: A comparison between ABC and unlabeled antibody (PAP) procedures

J Histochem Cytochem

S-100a0(α/α) protein: Distribution in muscle tissues of various animals and purification from human pectoral muscle

J Neurochem

A case of Erdheim-Chester disease with hyperlipoproteinemia

Byouri to Rinshou

Uber lipoidgranulomatose

Virchows Arch Pathol Anat

Case study
Erdheim-chester disease: A case report with immunohistochemical and biochemical examination

S-100_a⁰(α/α) protein: Distribution in muscle tissues of various animals and purification from human pectoral muscle