1/10. The role of bone scintigraphy in patients with erdheim-chester disease.erdheim-chester disease (ECD) is a rare disorder that has been reported fewer than 60 times in the literature. Although clinical findings seem to be specific at first sight, histologic classification remains unclear. It has not been decided whether ECD is part of the spectrum of histiocytoses or whether it may be a lipid storage disorder or even a primary macrophage cell disorder, although it does show a distinct histologic pattern. However, the clinical appearance alone shows several typical features, rendering the diagnosis very probable if present. This article illustrates the importance of bone scanning in ECD, because the scintigraphic pattern of involved skeletal sites may in themselves lead to the diagnosis. Several differential diagnoses are considered. The importance of bone scintigraphy as an imaging method in patients with an unclear diagnosis is discussed, as exemplary in ECD, as is its role for the detection of sites of skeletal involvement in other diseases.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
2/10. erdheim-chester disease: two cases of orbital involvement.erdheim-chester disease (ECD) is an increasingly recognised form of fibro-inflammatory process characterised by xanthomatous histiocytes containing large amounts of ingested lipid, plasma cells, macrophages and Touton-type giant cells. Ophthalmic involvement in ECD has been reported in only 22 cases. We describe two patients, one presenting with diabetes insipidus and subsequently developing orbital pseudotumours and retroperitoneal fibrosis, the other presenting with exophthalmos and diplopia. The first patient was treated with cladribine and subsequently developed sudden onset of bilateral blindness while the second required radiation therapy for the retro-orbital process and developed radiation retinopathy. These cases typify the variable presentation and course in patients with ECD.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
3/10. Conjunctival necrobiotic granuloma in xeroderma pigmentosum.PURPOSE: We report clinical and histopathologic findings of a conjunctival lesion associated with xeroderma pigmentosum. methods: A Saudi girl with known xeroderma pigmentosum presented with pain and photophobia of the right eye and an elevated temporally located perilimbal mass. RESULTS: The mass was resected successfully and has not recurred during 1-year follow-up. Histopathologic examination of the tissue showed a necrobiotic granuloma with associated histiocytic infiltration. The patient had no systemic disease, lipid was not detected in the histiocytic lesion, no Touton giant cells were present, and there was no evidence of elastolysis. CONCLUSION: Ocular malignancies occur in association with xeroderma pigmentosum, but benign lesions that mimic a malignancy may occur.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
4/10. Long-lasting "christmas tree rash" in an adolescent: isotopic response of indeterminate cell histiocytosis in pityriasis rosea?A 13-year-old girl developed a non-pruritic pityriasis rosea-like rash, which did not respond to topical corticosteroids or UV therapy but persisted for 2 years. The lymphohistiocytic infiltrate in the upper dermis showed mononuclear cells immunoreactive with S100, CD68, factor xiiia and CD1a. Electron microscopic evaluation of these cells demonstrated lamellated dense bodies but no Birbeck granules, lipid vacuoles or cholesterol crystals. Two diagnoses were made: a primarily clinical diagnosis of generalized eruptive histiocytosis and a more cell-biology-based diagnosis of an indeterminate cell histiocytosis. Three years later, the lesions are showing spontaneous resolution, with loss of erythema and flattening. Our patient's indeterminate cells fulfil Rowden's classical definition (dendritically shaped epidermal non-keratinocytes without identifying cytoplasmic features), as well as Zelger's newer definition (cells with features of both macrophages and dendritic cells). A Christmas tree pattern has not been previously described in indeterminate cell histiocytosis. Development of indeterminate cell histiocytosis in the lesions of a healing pityriasis rosea might explain the unusual distribution pattern. The development of a skin disorder at the site of an unrelated, already healed skin disease is known as an isotopic response. Key- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
5/10. Implant rehabilitation in erdheim-chester disease: a clinical report.Successful osseointegration of endosseous titanium implants is thought to be dependent upon close apposition of bone to the implant surface. The integration of implants in this patient was achieved despite the lipid-laden histiocytic infiltration of the bone marrow. Presumably, enough unaffected stromal cells were present to allow sufficient bone formation for osseointegration of the implant fixtures. This result invites speculation regarding both the mechanism of osseointegration and the minimum surface area of bone-implant interface necessary for achieving and maintaining osseointegration of titanium implants. This patient is periodically examined to determine if the loaded fixtures will remain clinically immobile for a prolonged period.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
6/10. Two sporadic cases of adult-onset progressive mucinous histiocytosis.Progressive mucinous histiocytosis is a rare, benign, non-Langerhans' cell histiocytosis limited to the skin. Ten cases--all women--in four families and one sporadic case have been described in the literature. The disorder usually begins in childhood and progresses slowly. We report two sporadic cases of adult-onset progressive mucinous histiocytosis in unrelated African-American women, aged 48 and 55 years, respectively, who developed red-brown and flesh-coloured, asymptomatic papules on the face, the arms and the legs without truncal, mucosal or visceral involvement. The lesions showed no spontaneous regression. Both patients lacked associated systemic symptoms, including polyuria, polydipsia or seizures. There was no underlying hyperlipidaemia, paraproteinaemia or lymphoproliferative disease. No family history of similar lesions could be identified. light microscopy revealed dermal proliferation of spindle-shaped histiocytes with abundant mucin deposition. Electron microscopy demonstrated a high number of myelin figures or zebra bodies in the cytoplasm of histiocytes. On immunohistochemistry, positive staining with macrophage markers--CD68, HAM56 and lysozyme--and factor xiiia, a transglutaminase present in dermal dendrocytes, and negative staining with Langerhans' cell markers--CD1a and S100--and CD34, a marker present in dermal dendritic cells derived from uncommitted mesenchymal cells, were observed.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
7/10. Solitary giant xanthogranuloma and benign cephalic histiocytosis--variants of juvenile xanthogranuloma.Sequential biopsies taken from a patient with a solitary giant xanthogranuloma, an exaggerated macronodular (> 5 cm in diameter) variant of juvenile xanthogranuloma, and from a patient with benign cephalic histiocytosis, revealed a characteristic time sequence of histopathological findings. Early stages of the diseases showed a monomorphous infiltrate of mononuclear vacuolated histiocytes positive for KiM1p, HAM56 and factor xiiia and were characterized by clusters of comma-shaped bodies. This was followed by a polymorphous mixture of various mononuclear and multinucleate histiocytes additionally labelling with KP1 (CD68) and, in occasional cells, for the adherence of peanut agglutinin. A variety of ultrastructural changes were found, including dense and regularly laminated bodies or lipid droplets. Our findings indicate that both entities are variants of a xanthogranulomatous reaction.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
8/10. Hereditary progressive mucinous histiocytosis. Immunohistochemical and ultrastructural studies in an additional family.BACKGROUND: Hereditary progressive mucinous histiocytosis was first described in 1988. The clinical features of this probably autosomal dominant inherited disease are skin-colored or red pea-sized tumors all over the skin appearing in the first decades of life and increasing gradually in number throughout life. In contrast to other benign histiocytic skin diseases there is no spontaneous tumor resolution. observation AND RESULTS: A 52-year-old woman and her 25-year-old daughter of a further family are reported. Both showed similar longstanding lesions without tumor regression. There was no evidence of visceral involvement. Histologic, immunohistochemical, and ultrastructural examinations revealed histiocytes from the monocyte/macrophage subset as the main constituents of the tumors. The cells contained abundant zebra and myeloid bodies and vacuoles indicating a lysosomal storage disease. Special investigations, however, such as lymphocytic storage, thin-layer chromatography of the involved tissue, lysosomal enzymes in serum, and enzymes released from cultured fibroblasts showed negative results. A pathologic accumulation of mucopolysaccharides or phospholipids in serum or urine or a basic enzyme defect could not be detected. CONCLUSIONS: Hereditary progressive mucinous histiocytosis has been previously reported in seven patients, all of whom were female. A pathologic proliferation of histiocytic cells from the monocyte/macrophage subset with lysosomal storage phenomena gives rise to the clinical symptoms. The disease does not correspond to one of the known lysosomal storage diseases. Since exact information on the stored material is still lacking, it cannot be ruled out that the disease is not primarily a true storage disease but a proliferation and accumulation of macrophages due to a hitherto unknown and persistent stimulus.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
9/10. Multiple eruptive cephalic histiocytomas in a case of T-cell lymphoma. A xanthomatous stage of benign cephalic histiocytosis in an adult patient?A 67-year-old woman had multiple, pinhead-sized, yellowish papules localized to her face, scalp, and neck. A previously diagnosed T-cell lymphoma of low malignancy had been treated with cytostatic drugs. Ultrastructurally the dermal infiltrate consisted predominantly of histiocytic cells in various degrees of differentiation. The cells revealed signs of high metabolic activity and contained well-developed mitochondria, rough endoplasmic reticulum, and lysosomes. Groups of worm-like bodies (comma-shape bodies) and great numbers of coated vesicles in various sizes could be regularly found. Microvillous cell processes formed close interdigitations, and desmosome-like structures occurred between adjacent cell membranes. Lipid storage was present in the form of neutral lipid vacuoles, cholesterol clefts, and myelin-like arrangements of phospholipid membranes. Some multinucleated histiocytic cells, mast cells, lymphocytes, and eosinophilic granulocytes were encountered in the infiltrate. No dermal Langerhans' cells with their characteristic granules were present. Similarities to and differences from benign cephalic histiocytosis, generalized eruptive histiocytoma, and other xanthomatous disorders are discussed.- - - - - - - - - - ranking = 2keywords = lipid (Clic here for more details about this article) |
10/10. erdheim-chester disease: a case report with immunohistochemical and biochemical examination.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 alpha, beta, anti-neuron-specific enolase (NSE), anti-alpha-1-antichymotrypsin, anti-alpha-1-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.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
| | Next -> |