Langerhans cell histiocytosis (LCH) is a rare disease involving clonal proliferation of cells with characteristics similar to bone marrow-derived Langerhans cells. The case of a young woman, affected by Turner syndrome and a solitary intraparenchymal LCH associated with an osteolytic lesion of the overlying skull, is presented

Alafaci, C.

Alafaci, E.

GRANATA, Francesca

GRASSO, Giovanni

Morabito, Rosa

Salpietro, F.

Surgical Neurology International

PubMed

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29/08/16, 23:41A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndromePagina 1 di 6https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828955/?report=printableSurg Neurol Int. 2016; 7: 31.Published online 2016 Mar 30. doi:  10.4103/2152-7806.179429PMCID: PMC4828955A rare case of solitary brain Langerhans cell histiocytosis withintratumoral hemorrhage in a patient affected by Turner syndromeFrancesca Granata, Rosa Morabito, Giovanni Grasso,  Elisabetta Alafaci,  Francesco M. Salpietro,  and ConcettaAlafaciDepartment of Radiological Sciences, University of Messina, Messina, ItalyDepartment of Experimental Biomedicine and Clinical Neurosciences (BIONEC), University of Palermo, Palermo, ItalyDepartment of Human Pathology, Medical Oncology Unit, University of Messina, Messina, ItalyDepartment of Neurosurgery, University of Messina, Messina, ItalyFrancesca Granata: fgranata@unime.it; Rosa Morabito: rosa.morabito85@hotmail.it; Giovanni Grasso: giovanni.grasso@unipa.it; ElisabettaAlafaci: ealafaci@unime.it; Francesco M. Salpietro: fsalp@unime.it; Concetta Alafaci: calafaci@unime.itCorresponding authorReceived 2016 Feb 3; Accepted 2016 Feb 29.Copyright : © 2016 Surgical Neurology InternationalThis is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License,which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations arelicensed under the identical terms.AbstractBackground:Langerhans cell histiocytosis (LCH) is a rare disease involving clonal proliferation of cells withcharacteristics similar to bone marrow-derived Langerhans cells. The case of a young woman, affected byTurner syndrome and a solitary intraparenchymal LCH associated with an osteolytic lesion of theoverlying skull, is presented.Case Description:The patient, with an insidious history of headache and a growing soft mass in the left frontal region,presented with a sudden generalized tonic-clonic epileptic seizure. Neuroradiological investigationsshowed an osteolytic lesion of the left frontal bone and an underlying brain lesion associated with recentsigns of bleeding. The patient was operated on with a complete removal of the lesion. The postoperativecourse was uneventful.Conclusions:The clinical, neuroradiological, and intraoperative findings are presented, along with a review of theliterature. Although rare, LCH should be considered in the differential diagnosis when a scalp lesionoccurs with a progressive growing.Keywords: Hemorrhage, Langerhans cell histiocytosis, skull neoplasmINTRODUCTION1 2 33,*123*29/08/16, 23:41A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndromePagina 2 di 6https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828955/?report=printableHistiocytic disorders are a group of diseases derived from macrophages and dendritic cells resulting in awide range of clinical conditions.[20] The World Health Organization, according to the type of histiocyteinvolved, classifies this pathology into dendritic cell disorders, macrophage-related disorders, andmalignant histiocytic disorders.[15,20] Langerhans cell histiocytosis (LCH) is the most common dendriticcell disorder.[20]We describe the case of a young female, affected by Turner syndrome (TS), with a solitary brain LCHassociated with an osteolytic lesion of the overlaying skull extending to the surrounding subgaleal softtissues.CASE REPORTClinical presentationA 30-year-old woman affected by TS, suffering from headache, vomiting, and increase in bodytemperature was admitted. Her past medical history was characterized by myoclonic seizures,pharmacologically treated, since she was 8-year-old. Four months before the admission, she noticed aprogressive growing nodular lesion in the left frontal side of the skull, which was painful on palpation. Anultrasound examination revealed an extracranial isoechoic mass diagnosed as a dermoid cyst.At admission, the patient developed a generalized tonic-clonic epileptic seizure. She underwent acomputed tomography (CT) examination which showed an osteolytic lesion, 33 mm in diameter, of the leftfrontal bone extending to the surrounding subgaleal soft tissues. The lytic lesion had the “punched-out”appearance, caused by the asymmetric destruction of the bone. There was no evidence of periostealreaction or bone sclerosis. CT scan also demonstrated an irregular parenchymal left frontal mass, belowthe bone defect. The tumor had an inhomogeneous density, with some hyperdense components, expressinga recent intratumoral bleeding. Thoraco-abdominal CT scan did not demonstrate abnormal findings inother organs, including lungs, pancreas, and spleen.Magnetic resonance (MR) examination was performed. The lesion showed strong and irregular increasedsignal intensity on T1-weighted images and mixed low-high intensity on T2-weighted images. Thepresence of low- and high-signal components suggested different phases of intratumoral hemorrhage. Aftergadolinium administration, a slight peripheral enhancement of the lesion was demonstrated.TreatmentThe patient underwent surgical treatment. Following the left frontal skin incision, the bone defect wasdetected. A surrounding craniotomy was performed. The dura appeared regular without macroscopic signsof tumor infiltration. The lesion, which macroscopically appeared soft and reddish blue with bleedingsigns, was completely removed. A cranioplasty, by using methyl methacrylate, was performed toreconstruct the bone defect. The postoperative course was uneventful. Postoperative MR imaging revealedno residual tumor.Figure 1 shows the neuroradiological examinations performed before and following the surgery.Histological examination showed a normal dura. The brain lesion showed numerous blood cells anddeposits of hemosiderin. The tumor was made up of eosinophils, lymphocytes, macrophage withhemosiderin, and many histiocytes in addition to many Langerhans giant cells. The histiocytes andLangerhans cells were positive for S-100 and CD1a proteins. The histological diagnosis was LCH.DISCUSSION29/08/16, 23:41A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndromePagina 3 di 6https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828955/?report=printableLCH is a rare immunologic disorder involving clonal proliferation and accumulation in multiple organs ofhistiocyte-like cells (Langerhans cell) deriving from bone marrow and capable of migrating from skin tolymph nodes.[1,16,20]LCH has an estimated incidence of 3–5 pediatric cases per million/year and 1–2 adult cases permillion/year.[19] LCH is named because of its similarity to the Langerhans cells which are normally foundin the skin and mucosa. Cells of LCH derive from myeloid dendritic cells that lack the ability to be afunctional antigen-presenting cell.[9] They exhibit the same antigens, CD1a, S-100, and CD 207, and thesame intracytoplasmic X-shaped organelles, the Birbeck granules, as found in Langerhans cells.[17,20]The disease is confined in one organ in about 55% of the cases whereas in the remaining cases, it presentsas a multisystem disease.[19] According to the International Classification of Disease-Oncology, LCH isclassified into three groups on the basis of the number of lesions and organs involved.[15,19] The unifocalLCH, formerly known as eosinophilic granuloma, is the most common form being observed inapproximately 70% of the cases. It usually affects young patients, limited to a single bone or few bones,and it may involve the lung.[15,20] Rarely, it can involve the digestive system, salivary glands, andthymus. An unifocal brain localization is very rare.[3,14]The multifocal unisystem is approximately 20% of LCH cases and usually involves 2–5-year-old children.[15,20] Such a variation may affect multiple bones and the reticulo-endothelial system (i.e. liver, spleen,lymph nodes, and skin). It is often accompanied by diabetes insipidus when the pituitary gland is involved.[6]The multifocal multisystem is approximately the 10% of LCH. It is typically diagnosed in the first 2 yearsof life and it is characterized by a poor prognosis due to the involvement of the reticulo-endothelialsystem, anemia, thrombocytopenia, and respiratory distress.[20]Pathogenetic mechanisms underlying the LCH is a matter of debate. One of the hypotheses is that LCHcan be an immunological disorder characterized by an overexpression and/or deficient cytokine activationcontrol of cell proliferation and differentiation into immunocompetent or hematopoietic lines.[2,14] In thisregard, it has been proven that granulocyte macrophage colony-stimulating factor and tumor necrosisfactor-alpha play an important role in the generation of Langerhans cells from hematopoietic stem cells.[4]Some studies suggest a possible viral etiology being the Epstein–Barr virus, human herpes virus 6 and 8[8]as well as cytomegalovirus, adenoviruses, papovaviruses, and HIV infections often found.[14]Cases of familiar LCH have rarely been described.[14]A relationship between the diffuse form of Langerhans histiocytosis, acute lymphoblastic leukemia, andmalignant lymphomas has also been reported.[14]We have reported the case of a young patient with a solitary brain LCH with intratumoral bleedingassociated with an osteolytic lesion of the skull. Intracranial LCH with intratumoral hemorrhage is a rarecondition. According to the literature, only one case of a parietal LCH lesion associated with bleedingcomponents has been reported.[18] Furthermore, there are few reports about intracranial LCH presentingas an epidural hematoma or bleeding cyst.[5,11,12,13,18] In case of intratumoral hemorrhage, the bleedingcould be related to vascular occlusion or necrosis due to endothelial cells proliferation, rupture of fragiletumoral vessels, disappearance or reduction of the supportive tissue surrounding the tumoral vessels, andinfiltration of vessel walls.[18]In our case, LCH was found in the skull, with the characteristic of a well-defined lytic lesion in the brain.Since the dura layer was not infiltrated, we can provide evidence of a double LCH localization.Furthermore, our patient was also affected by TS. TS is a congenital condition that affects 1/2500 births,29/08/16, 23:41A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndromePagina 4 di 6https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828955/?report=printableresulting from the absence or structural alteration of the second sex chromosome. It is usually associatedwith short stature, gonadal dysgenesis, and variable dysmorphic features.[7] Although many reportsdescribe the association between TS and various immunological disorders,[10] to date, there is noevidence about the association of LCH and TS.CONCLUSIONSWe report a very rare occurrence of a double LCH involving the skull and the overlaying brain, sparing thedura.Although rare, LCH affecting the brain should be considered, especially when a scalp lesion with aprogressive growing occurs.Financial support and sponsorshipNil.Conflicts of interestThere are no conflicts of interest.Footnoteshttp://surgicalneurologyint.com/A-rare-case-of-solitary-brain-Langerhans-cell-histiocytosis-with-intratumoral-hemorrhage-in-a-patient-affected-by-Turner-syndrome/REFERENCES1. Alexiou GA, Mpairamidis E, Sfakianos G, Prodromou N. Cranial unifocal Langerhans cell histiocytosisin children. J Pediatr Surg. 2009;44:571–4. [PubMed: 19302861]2. Bergmann M, Yuan Y, Brück W, Palm KV, Rohkamm R. Solitary Langerhans cell histiocytosis lesion ofthe parieto-occipital lobe: A case report and review of the literature. Clin Neurol Neurosurg. 1997;99:50–5.[PubMed: 9107469]3. Cai S, Zhang S, Liu X, Lin Y, Wu C, Chen Y, et al. Solitary Langerhans cell histiocytosis of frontal lobe:A case report and literature review. Chin J Cancer Res. 2014;26:211–4. [PMCID: PMC4000902][PubMed: 24826063]4. Caux C, Dezutter-Dambuyant C, Schmitt D, Banchereau J. GM-CSF and TNF-alpha cooperate in thegeneration of dendritic Langerhans cells. Nature. 1992;360:258–61. [PubMed: 1279441]5. Cho DY, Liau WR, Chiang IP. Eosinophilic granuloma with acute epidural hematoma: A case report.Pediatr Neurosurg. 2001;35:266–9. [PubMed: 11741122]6. Ghafoori S, Mohseni S, Larijani B, Mohajeri-Tehrani MR. Pituitary stalk thickening in a case oflangerhans cell histiocytosis. Arch Iran Med. 2015;18:193–5. [PubMed: 25773695]7. Haltrich I, Pikó H, Pamjav H, Somogyi A, Völgyi A, David D, et al. Complex X chromosomerearrangement associated with multiorgan autoimmunity. Mol Cytogenet. 2015;8:51.[PMCID: PMC4506572] [PubMed: 26191082]8. Hoover KB, Rosenthal DI, Mankin H. Langerhans cell histiocytosis. Skeletal Radiol. 2007;36:95–104.[PubMed: 17028900]9. Lajolo C, Campisi G, Deli G, Littarru C, Guiglia R, Giuliani M. Langerhans's cell histiocytosis in old29/08/16, 23:41A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndromePagina 5 di 6https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828955/?report=printablesubjects: Two rare case reports and review of the literature. Gerodontology. 2012;29:e1207–14.[PubMed: 22612839]10. Larizza D, Calcaterra V, Martinetti M. Autoimmune stigmata in Turner syndrome: When lacks an Xchromosome. J Autoimmun. 2009;33:25–30. [PubMed: 19349146]11. Lee BD, Lee W, Lee J, Son HJ. Eosinophilic granuloma in the anterior mandible mimicking radicularcyst. Imaging Sci Dent. 2013;43:117–22. [PMCID: PMC3691372] [PubMed: 23807936]12. Lee BH, George S, Kutok JL. Langerhans cell histiocytosis involving the thymus. A case report andreview of the literature. Arch Pathol Lab Med. 2003;127:e294–7. [PubMed: 12823060]13. Martínez-Lage JF, Bermúdez M, Martínez-Barba E, Fuster JL, Poza M. Epidural hematoma from acranial eosinophilic granuloma. Childs Nerv Syst. 2002;18:74–6. [PubMed: 11935249]14. Moscinski LC, Kleinschmidt-DeMasters BK. Primary eosinophilic granuloma of frontal lobe.Diagnostic use of S-100 protein. Cancer. 1985;56:284–8. [PubMed: 3891065]15. Mosiewicz A, Rola R, Jarosz B, Trojanowska A, Trojanowski T. Langerhans cell histiocytosis of theparietal bone with epidural and extracranial expansion - Case report and a review of the literature. NeurolNeurochir Pol. 2010;44:196–203. [PubMed: 20496290]16. Nicollas R, Rome A, Belaïch H, Roman S, Volk M, Gentet JC, et al. Head and neck manifestation andprognosis of Langerhans’ cell histiocytosis in children. Int J Pediatr Otorhinolaryngol. 2010;74:669–73.[PubMed: 20363036]17. Saliba I, Sidani K, El Fata F, Arcand P, Quintal MC, Abela A. Langerhans’ cell histiocytosis of thetemporal bone in children. Int J Pediatr Otorhinolaryngol. 2008;72:775–86. [PubMed: 18355926]18. Uranishi R, Nikaido Y, Eguchi T, Bessho H, Fujimoto T, Inui T. Eosinophilic granuloma associatedwith intratumoral hemorrhage – Case report. Neurol Med Chir (Tokyo) 1996;36:458–61.[PubMed: 8741377]19. Watanabe S, Yamamoto T, Satomi K, Matsuda M, Akutsu H, Ishikawa E, et al. Comparison ofmagnetic resonance imaging with invasive histological findings of Langerhans cell histiocytosis. BrainTumor Pathol. 2014;31:182–6. [PubMed: 24604297]20. Zaveri J, La Q, Yarmish G, Neuman J. More than just Langerhans cell histiocytosis: A radiologicreview of histiocytic disorders. Radiographics. 2014;34:2008–24. [PubMed: 25384298]Figures and TablesFigure 129/08/16, 23:41A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndromePagina 6 di 6https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828955/?report=printable(a and b) Computed tomography scan showing an osteolytic lesion of the left frontal bone, extending to the surroundingsubgaleal soft tissues. An irregular left frontal lobe mass, below the bone defect, was also present. (c) Three-dimensionalcomputed tomography scan showing the frontal bone defect. (d) Magnetic resonance examination showing the lesion withan irregular increased signal intensity on T1-weighted images and the coexistence of low- and high-signal components,suggesting different phases of intratumoral hemorrhage. After gadolinium administration, a slight peripheral enhancementwas evident. (e) Postoperative magnetic resonance imaging revealing the contrast enhancement of the dural layer with noresidual tumor. (f) Three-dimensional computed tomography scan showing the reconstruction of the bone defectArticles from Surgical Neurology International are provided here courtesy of Medknow Publications

A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndrome

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A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndrome

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