Xanthogranulomatous Lesions Research Articles

Unmasking the Face of a Rare Disease – Progressive Nodular Histiocytosis

Abstract Non-Langerhans cell histiocytoses (NLCHs) are a complex group of disorders which can be difficult to diagnose due to their confounding clinical and microscopic features. Progressive nodular histiocytosis (PNH) is a rare subtype of NLCH characterized by benign, xanthogranulomatous lesions on the skin and mucous membranes. Clinical features of PNH involve the gradual emergence of multiple yellow-brown papules and nodules, with histological examination demonstrating the presence of foamy tissue macrophages, spindle-shaped cells within a fibrocollagenous matrix, and Touton cells. We present a rare case of a 55-year-old female patient with progressively increasing facial nodules, where clinical, histopathological, and immunohistochemical findings clinched the diagnosis of PNH.

Xanthogranulomatous Pituitary Adenoma in a Dog with Typical Hyperadrenocorticism

Xanthogranuloma of the sellar region has been reported in both humans and animals. The lesion is rare, and its aetiology and pathogenesis are not fully understood. The association of sellar xanthogranuloma with an adenoma, known as xanthogranulomatous pituitary adenoma (XPA), is an extremely rare condition in humans and is usually associated with anterior pituitary insufficiencies, headache, vomiting and visual deficits. We present the first report of XPA in an animal. A 7-year-old male neutered Labrador Retriever was presented for investigation of progressive lethargy, vomiting and hyporexia, having been previously diagnosed with chronic kidney disease, pituitary-dependent hyperadrenocorticism and hypoparathyroidism. The dog was euthanized due to lack of response to medical treatment and post-mortem examination revealed XPA. Although rare, xanthogranulomatous lesions should be considered in patients with pituitary disease.

Sellar Xanthogranuloma: A Quest Based on Nine Cases Assessed with an Anterior Pituitary Provocation Test

Xanthogranuloma is a chronic inflammatory mass characterized by cholesterol crystal deposition, which is rarely seen in the sellar region. The objective of this study is to identify the clinical features and cause of sellar xanthogranulomas. We retrospectively analyzed manifestation, radiographic, and endocrinologic presentation in 9 patients (7 women and 2 men) whom we had previously treated. The patients were between 26 and 73 years of age (median, 56 years). The chief symptoms were visual symptoms in 3, polyuria in 3, headache in 4, and tiredness in 4 patients. Perimetry found visual field deficit in 6 patients. Anterior pituitary provocation tests disclosed impairment of ≥1 hormone in all patients: growth hormone in 8 patients and adrenocorticotropic hormone-cortisol axis in 8 patients. The lesions were suprasellar in 2 patients, intrasellar in 2 patients, and intrasuprasellar region in 5 patients. Three of the lesions were solid and 6 were single cystic to multicystic. Very low intensity area on T2-weighted magnetic resonance imaging was observed in 4 lesions. Postcontrast study performed in 7 lesions showed enhancement in solid parts or cyst walls. Surgical decompression improved visual disturbance in half of the patients but rarely improved hormonal deficits. Follow-up (median, 47 months) found no recurrence of the lesion. In addition to these 9 cases, we found 2 xanthogranulomatous lesions pathologically associated with ciliated epithelia, which also presented with severe hypopituitarism. Xanthogranuloma seems to be the last stage of the chronic inflammation affecting Rathke cleft cyst or craniopharyngioma presenting with severe anterior pituitary insufficiency.

Adult Orbital and Adnexal Xanthogranulomatous Disease.

Adult xanthogranulomatous disease of the orbit and ocular adnexa is a rare disease that can cause serious morbidity and mortality. Ophthalmologists are commonly the first clinicians to come in contact with affected patients and an understanding of the clinical features is essential. We present a retrospective case series of patients seen in the oculoplastic unit of a large tertiary referral hospital over a 20-year period. The clinical files of 7 patients with adult xanthogranulomatous disease of the orbit and ocular adnexa were reviewed. Clinical, radiological, histopathological, and immunohistochemical findings were examined. Periocular clinical features included cutaneous xanthogranulomatous lesions, decreased visual acuity, proptosis, diplopia, skin ulceration, cicatricial ectropion, and mechanical ptosis. Systemic features included adult-onset asthma, disseminated xanthogranulomatous lesions with long bone involvement, and hematological disturbances such as monoclonal gammopathy and lymphoplasmacytic lymphoma. Lipid-laden macrophages and Touton multinucleated giant cells were histological hallmarks in all subtypes. Most lesions were strongly CD8 positive on immunohistochemistry. Radiologically, the lesions were diffuse and infiltrative in nature. Various treatments were employed with varying success including surgical excision, systemic and intralesional corticosteroids, other immunosuppressants, and systemic chemotherapy. Adult xanthogranulomatous disease of the orbit and ocular adnexa, although rare, may be sight or life threatening. Recognition by the ophthalmologist is critical as periocular features often constitute the initial presentation.

Xanthogranulomatous Salpingooophoritis: The Youngest Documented Case Report.

Background. Xanthogranulomatous inflammation is an uncommon affection of the female genital tract. The youngest case reported of xanthogranulomatous salpingooophoritis in literature was by Shilpa et al. in 2013 in an eighteen-year-old female. Case Report. We report a case of 2-year-old female child with right-sided xanthogranulomatous salpingooophoritis presented as mass in abdomen. This is a case report of the youngest documented case of xanthogranulomatous salpingooophoritis in literature. As per abdominal examination, there was generalized distention of abdomen and a mass was palpable which was arising out of pelvis more on the right side. The ultrasonography (USG) abdomen and pelvis revealed a thick-walled mass measuring 9.2 cm × 6.0 cm × 7.6 cm in pelvis. We did right salpingooophorectomy of the patient. On histopathology, the diagnosis of xanthogranulomatous salpingooophoritis was confirmed. Conclusion. Clinical presentation, radiological appearance, and gross features of xanthogranulomatous lesions of ovary can mimic neoplastic lesions and lead to misdiagnosis. Though, it is very rare in pediatric age group, xanthogranulomatous salpingooophoritis as one of the differential diagnoses should be kept in mind while dealing with tuboovarian masses in this age group.

Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion

Erdheim–Chester disease (ECD) is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of ECD can be very challenging. The aim of this report is to describe the cytomorphology of ECD in a patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman with proptosis and diabetes insipidus was found on imaging studies to have multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft tissue mass. Fine needle aspiration (FNA) and a concomitant core biopsy of this abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68, CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical context. This case describes the cytomorphologic features of ECD and highlights the role of cytology in helping reach a diagnosis of this rare disorder.

Involvement of Escherichia coli in pathogenesis of xanthogranulomatous cholecystitis with scavenger receptor class A and CXCL16–CXCR6 interaction

Xanthogranulomatous cholecystitis (XGC) is characterized by the infiltration of numerous foamy macrophages. Bacterial infection is thought to be involved in the pathogenesis of XGC. Using XGC and cultured murine biliary epithelial cells (BEC), the participation of E. coli and the role of the scavenger receptor class A (SCARA), as well as chemokine(C-X-C motif) ligand 16 (CXCL16) and its receptor chemokine(C-X-C motif) receptor 6 (CXCR6), were examined in the pathogenesis of XGC. E. coli components and genes were detected in XGC on immunohistochemistry and polymerase chain reaction (PCR), respectively. SCARA-recognizing E. coli was found in foamy macrophages aggregated in xanthogranulomatous lesions. CXCL16, which functions as a membrane-bound molecule and soluble chemokine to induce adhesion and migration of CXCR6(+) cells, was detected on gallbladder epithelia, and CXCR6(+)/CD8(+) T cells and CXCR6(+)/CD68(+) macrophages were also accumulated. In cultured BEC, CXCL16 mRNA and secreted soluble CXCL16 were constantly detected and upregulated by treatment with E. coli and lipopolysaccharide through Toll-like receptor 4. These suggest that SCARA in macrophages is involved in the phagocytosis of E. coli followed by foamy changes and that bacterial infection causes the upregulation of CXCL16 in gallbladder epithelia, leading to the chemoattraction of macrophages via CXCL16-CXCR6 interaction and formation of the characteristic histology of XGC.

Xanthogranuloma of the sellar region: a clinicopathological entity different from adamantinomatous craniopharyngioma.

Xanthogranulomatous change of craniopharyngioma, consisting of cholesterol clefts, macrophages, chronic inflammatory infiltrates, necrotic debris and hemosiderin deposits, has been traditionally considered a hallmark of the adamantinomatous variant, even in the absence of epithelium. Based on a series of 110 craniopharyngioma patients undergoing primary surgery, we found 37 specimens with a predominating xanthogranulomatous component. Only 3 of these cases (8%) exhibited additional histological features of adamantinomatous craniopharyngioma, while 13 cases (35%) contained non-adamantinomatous epithelium composed of squamous or ciliated cuboidal cells. Subsequent clinical analysis revealed that these 37 xanthogranulomatous lesions differed from 59 classical adamantinomatous craniopharyngiomas with respect to preferential occurrence in adolescents and young adults (mean age 27 years), predominant intrasellar location, smaller tumor size, more severe endocrinological deficits, longer preoperative history, lower frequency of calcification and visual disturbances, better resectability, and a more favorable outcome. On the other hand, xanthogranulomatous and adamantinomatous lesions did not differ with respect to sex, amount of cystic components, or the intraoperative aspect, considered by the neurosurgeon as being typical for craniopharyngioma in all cases. We suggest that xanthogranuloma (cholesterol granuloma) of the sellar region is clinically and pathologically distinct from the classical adamantinomatous craniopharyngioma.

Erdheim-Chester disease: radiographic findings in five patients

We present the case histories of five patients with Erdheim-Chester disease, a rare lipoidosis that has several typical radiographic features. In all the patients, the diaphyses and metaphyses of the extremities demonstrated a symmetric pattern of diffuse or patchy increased density, a coarsened trabecular pattern, medullary sclerosis, and cortical thickening. The epiphyses were spared in four patients and partially involved in one. The axial skeleton was involved in one patient. Radiotracer 99mTc accumulated in areas of radiographic abnormalities in all patients. In one patient, MRI demonstrated an abnormal signal, corresponding to radiographic abnormalities. The signal was hypointense to muscle on T1-weighted sequences and heterogeneously hyperintense and hypointense to normal bone marrow on T2-weighted sequences. Xanthogranulomatous lesions infiltrated the retroperitoneum in one patient, the testes in one patient, the eyelids in one patient, and the orbits in two patients.

Histiocytic Tumor of Meckelʼs Cave

We present the case of a 7-year-old boy who had a solitary mass within Meckel's cave that recurred 6 weeks after the initial resection. The histological, immunohistochemical, electron-microscopical, and molecular genetical features established the lesion's histiocytic nature. Our findings showed that it was closely related to juvenile xanthogranuloma, a benign lesion that usually occurs in the skin but has not yet been histologically confirmed in the brain. The present tumor is different from other intracranial histiocytic and xanthogranulomatous lesions.

The Evolution of Hodgkin's Disease and Necrobiotic Xanthogranuloma Syndrome

We describe a woman in whom hypogammaglobulinemia and severe granulomatous cutaneous lesions had developed during childhood; subsequently, Hodgkin's disease and necrobiotic xanthogranuloma were diagnosed. This case illustrates an apparent association with disease activity and raises the question of a direct relationship of necrobiotic xanthogranuloma with lymphoproliferative disease.

Necrobiotic xanthogranuloma: A systemic disease with paraproteinemia

A woman of 39 presenting with a conjunctival swelling with a necrobiotic xanthogranulomatous histology suffered from a series of destructive cutaneous lesions of similar histology for 20 yr. She had a paraproteinemia and developed myelomatosis. At postmortem xanthogranulomatous lesions were found in skin, larynx, heart and kidneys. The patient also had nodular transformation of the liver with portal hypertension.