title: Mitochondrial complex I and III mutations and neutral-lipid storage in activated mononuclear macrophages and neutrophils: a case presenting with necrotizing myopathy, poikiloderma atrophicans vasculare, and xanthogranulomatous bursitis.
abstract: We report the case of a 57-year-old woman suffering from xanthogranulomatous bursitis, necrotizing myopathy, and poikiloderma atrophicans vasculare, which are associated with marked accumulation of neutral-lipid storage phagocytes. The observed lipid storage was restricted to activated phagocytes independent of the presence of tissue necrosis and was not seen either in circulating blood leukocytes or in muscle fibers. The patient's daughter disclosed xanthomatous inflammatory reaction with profound delay of wound healing secondary to pelviscopy. Examination of the mitochondrial DNAs of the patient, her daughter, and her two grandchildren revealed two homoplasmic mutations at positions 13708 and 15257 of the mitochondrial genome. We discuss the involvement of these mutations in the pathogenesis of xanthomatous and xanthogranulomatous inflammation. Further investigations are required to test whether impairment of aerobic energy production independent from mitochondrial DNA mutations (eg, by hypoxia or microbial toxins) similarly can cause the accumulation of lipid-laden macrophages and explain the persistency of xanthogranulomatous inflammation.
authors.affiliation: Department of Pathology, University of Ulm, Germany.
authors.forename: O
authors.initials: O
authors.lastname: Haferkamp
authors.forename: A
authors.initials: A
authors.lastname: Scheuerle
authors.forename: R
authors.initials: R
authors.lastname: Schlenk
authors.forename: I
authors.initials: I
authors.lastname: Melzner
authors.forename: I
authors.initials: I
authors.lastname: Pavenstädt-Grupp
authors.forename: G
authors.initials: G
authors.lastname: Rödel
mesh_terms: D001483:Base Sequence; D002062:Bursitis / Q000150:complications / Q000209:etiology; D004247:DNA / Q000032:analysis; D014450:Electron Transport Complex III / Q000235:genetics*; D005260:Female; D006099:Granuloma / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008264:Macrophages; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*; D009504:Neutrophils; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D014973:Xanthomatosis / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology
chemical_list: D004247:DNA; D016660:NAD(P)H Dehydrogenase (Quinone); D014450:Electron Transport Complex III