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Xanthoma Disseminatum
Disseminated Xanthosiderohistiocytosis

Presentation

We present a review of world literature on xanthoma disseminatum and summarize the clinicopathologic features and course in 7 Mayo Clinic cases. [jamanetwork.com]

The gross and microscopic pathology are presented with immunohistochemical, ultrastructural and biochemical details. [ncbi.nlm.nih.gov]

The disseminated xanthomatosis may present the triad of skin xanthomas, xanthomas in mucous membranes, and diabetes insipidus. [pesquisa.bvsalud.org]

Case presentation We presented one 34-year-old Chinese female with disseminated intracranial XD without cutaneous or oral mucosal papules and masses of the other organs. [diagnosticpathology.biomedcentral.com]

Entire Body System

  • Inguinal Lesions

    The underarm lesions and inguinal lesions had improved significantly. He had no new lesions develop during follow-up. After 6 months of follow-up, the lesions continued to flatten, with involution of the XD lesions and no evidence of new lesions. [jamanetwork.com]

  • Axillary Lesion

    Axillary lesions of the patient in case 7 after 5 cycles of treatment with 2-chlorodeoxyadenosine. A, Right side; B, left side. [jamanetwork.com]

  • Atrial Septal Defect

    […] flutter *auricular flutter 【心房中隔欠損症】*atrial septal defect (略 ASD) 【心房粘液腫】*atrial myxoma 【心膜炎】*pericarditis (唇) 【唇外反】*eclabium 【唇顎口蓋裂】*cheilognathopalatoschisis 【唇顎裂】【唇顎披裂】*cheilognathoschisis 【唇発育不全】*atelocheilia 【唇裂】*cleft lip *cheiloschisis (=口唇裂) [medo.jp]

Skin

  • Night Sweats

    A 10-year-old boy was admitted to the University Hospital complaining of exhaustion, night sweats, coughing and dyspnea. Physical examination, laboratory findings and histopathological examination led to the diagnosis of Xanthoma disseminatum. [ncbi.nlm.nih.gov]

    Adverse effects of 2-CdA were limited to joint pain and night sweats. After 5 treatment cycles, the patient had no new lesions and had achieved additional improvement in established lesions, which were more flat and less erythematous. [jamanetwork.com]

Eyes

  • Corneal Infiltrate

    Ocular examination revealed conjunctival and left corneal infiltration by yellow minute papules with normal visual field. Abdomino-pelvic ultrasonography, chest X-ray, upper and lower gastrointestinal endoscopy revealed no abnormality. [jpgmonline.com]

Psychiatrical

  • Self-Inflicted Wound

    The patient refused any systemic treatment and later died of self-inflicted wounds. Figure 3. [jamanetwork.com]

Workup

Progress logically from the histologic pattern, through the appropriate workup, around the pitfalls, to the best diagnosis. [books.google.it]

A thorough workup is essential to identify the underlying condition in order to initiate early treatment and to prevent later complications. [austinpublishinggroup.com]

The macroscopic lesions arise from phagocytosis in the dermis of plasma lipoproteins that leak from capillaries. 1 Laboratory workup is mandatory to exclude diabetes, nephrotic syndrome, or hypothyroidism. [hkmj.org]

Systemic examinations including oropharyngeal, ophthalmic, and otorhinolaryngological workup, and laboratory investigations including blood counts, serum biochemistry, thyroid function tests, lipidprofile, urinalysis, ECG, chest X-ray, and ultrasonographic [ijdvl.com]

X-Ray

  • Atelectasis

    Chest x-rays showed hyperaeration and segmental atelectasis. High-resolution CT of the thorax revealed diffuse thickening of the whole tracheal and bronchial wall, and bronchiectasis in the lower lobes. [ncbi.nlm.nih.gov]

    Chest x‐rays showed hyperaeration and segmental atelectasis. High‐resolution CT of the thorax revealed diffuse thickening of the whole tracheal and bronchial wall, and bronchiectasis in the lower lobes. [doi.org]

    【象牙質腫】*dentinoma (増) 【増殖型網膜症】*proliferating retinopathy 【増殖性糸球体腎炎】*proliferative glomerulonephritis 【増殖性心内膜炎】*vegetative endocarditis (続) 【続発性胆汁性肝硬変】*secondary biliary cirrhosis (略 PBC) (粟) 【粟粒結核】*miliary tuberculosis 【粟粒疹】*miliaria 【粟粒性無気肺】*miliary atelectasis [medo.jp]

Serum

  • Hyperprolactinemia

    Laboratory tests showed hyperprolactinemia, normal electrolytes, and a normal lipid profile. [ncbi.nlm.nih.gov]

    We present the case of a patient with disseminated xanthomas in skin, as the first manifestation, with rapid evolution in a one-year period, and associated with diabetes insipidus, hyperprolactinemia and menstrual cycle irregularities. [pesquisa.bvsalud.org]

Treatment

Treatment was started with 2-CdA for six 1-month 6 cycles (5 days of treatment in 1 week and repeated every month). [jamanetwork.com]

This chronic disease has no known established treatment. We report 8 cases of xanthoma disseminatum with treatment outcomes in long-term follow-up and provide a review of the medical literature. [mayoclinic.pure.elsevier.com]

Treatment of cutaneous lesions of xanthoma disseminatum with CO2 laser. Dermatol Surg. 1999;25:751-4. Seaton ED, Pillai GJ, Chu AC. Treatment of xanthoma disseminatum with cyclophosphamide. Br J Dermatol. 2004;150:346-9. [ijmedicine.com]

Treatment Options Since XD has been reported in such a few numbers of cases, treatment recommendations stem mainly from these case reports. [dermatologyadvisor.com]

Prognosis

Even with this escalation of treatment, progressive cases of XD typically have a poor prognosis. [dermatologyadvisor.com]

CNS involvement carries a poor prognosis in this otherwise benign condition. [ncbi.nlm.nih.gov]

Prognosis often resistant to treatment Localization mucocutaneous ocular laryngeal pituitary central nervous system liver ( 16354260 ) See also systemic histiocytoses non-Langerhans cell histiocytoses dermal dendrocytes dendrocytic tumors (dendrocytic [humpath.com]

What is the Prognosis of Xanthoma Disseminatum? (Outcomes/Resolutions) The prognosis of Xanthoma Disseminatum (XD) depends on the type of condition and the symptoms that manifest. [dovemed.com]

Etiology

Xanthoma disseminatum is a rare, benign, non-Langerhans' cell histiocytic disorder of unknown etiology. [ncbi.nlm.nih.gov]

Xanthoma Disseminatum: Case Report Abstract Xanthoma disseminatum is a rare, benign, non-Langerhans´ cell histiocytic disorder of unknown etiology. [adc.mef.hr]

Tumoral pathology > xanthoma disseminatum Xanthoma disseminatum is a rare, usually self- healing dermatologic disease of unknown etiology. Involvement of other organs and tissues including bone marrow, bone, and brain may be seen rarely in children. [humpath.com]

Etiology Pathophysiology The etiology and pathogenesis of XD are unknown. Some authors have speculated that the association with paraproteinemia suggests an immunologic basis for this disease. [dermatologyadvisor.com]

Epidemiology

Definition / general Localized mass forming collection of lipid bearing histiocytes Terminology Also called xanthomatous polyp, xanthogranulomatous inflammation, xanthelasma Epidemiology Very rare in colon - stomach is most common gastrointestinal site [pathologyoutlines.com]

XD could be differentiated from BCH on the basis of epidemiological, clinical and histopathological findings. One hypothesis could link such circumscribed localization to some regional (dis-)immune factors (10). [medicaljournals.se]

Epidemiology Preferentially affects children, usually occurs by 10 years of age, with one-half of reported cases occurring in the first year of life. Twenty percent of the cases occur in adolescents and young adults. [atlasgeneticsoncology.org]

Pathophysiology

Etiology Pathophysiology The etiology and pathogenesis of XD are unknown. Some authors have speculated that the association with paraproteinemia suggests an immunologic basis for this disease. [dermatologyadvisor.com]

Department of Molecular Medicine, IRCCS San Matteo Foundation, University of Pavia, Pavia, 2 Unit of Dermatology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Pace 9, Milan, 3 Department of Oncology and Hematology, and 4 Department of Pathophysiology [medicaljournals.se]

The understanding of the pathophysiology of these defects provides a basis for diagnosis and treatment. [emedicine.medscape.com]

Prevention

Xanthomas associated with hyperlipidemia require treatment of the lipid disorder to reduce the xanthomas and prevent possible risks (such as atherosclerosis) (2). [empowher.com]

A thorough workup is essential to identify the underlying condition in order to initiate early treatment and to prevent later complications. [austinpublishinggroup.com]

Treatment of eruptive xanthoma involves dietary restriction, exercise, and drug therapy to control the hyperlipidemia and the diabetes. 2 Early recognition and proper control of hypertriglyceridemia can prevent sequelae such as acute pancreatitis. 3 [mdedge.com]

Lipoma disseminatum 1 Department of Medicine, Lady Hardinge Medical College and Smt.S.K.Hospital, New Delhi, India 2 Department of Medicine/Preventive Cardiology, Hamdard Institute of Medical Sciences and Research and HAH Centenary Hospital, Jamia Hamdard [jscisociety.com]

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