{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T04:49:23Z","timestamp":1770353363644,"version":"3.49.0"},"reference-count":76,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"2","license":[{"start":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T00:00:00Z","timestamp":1673222400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,9]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>\n                      Macrodystrophia lipomatosa (MDL) is characterized by progressive overgrowth affecting soft tissues and bony structures and is part of lipomatous overgrowth syndromes. MDL has been associated with lipomatosis of the nerve (LN), an adipose lesion of nerve that has a pathognomonic magnetic resonance imaging (MRI) appearance as well as a mutation in the\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      gene. The authors present a case of occult LN in the setting of MDL.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>\n                      A 2-year-old boy with progressive soft tissue overgrowth of his proximal right lower extremity was initially diagnosed with neurofibromatosis type 1 (NF1). At our institution, NF1 as well as other overgrowth syndromes including\n                      <jats:italic>PTEN<\/jats:italic>\n                      hamartoma tumor syndrome were excluded. He was diagnosed as having so-called MDL. Upon reinterpretation of the patient\u2019s MRI studies, short-segment LN involving the proximal sciatic nerve and part of lumbosacral plexus was identified. He underwent 2 debulking\/liposuction procedures for soft tissue overgrowth. Genetic testing of tissue revealed a mutation in\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>Thorough clinical examination (for signs of overgrowth) as well as an MRI study of the entire neural pathway is a critical part of the diagnostic workup to evaluate for LN. The authors believe that an increasing association of LN, even when occult, will emerge that will explain many cases with marked nerve-territory overgrowth.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case22463","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T02:49:45Z","timestamp":1673232585000},"source":"Crossref","is-referenced-by-count":4,"title":["Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case"],"prefix":"10.3171","volume":"5","author":[{"given":"Tomas","family":"Marek","sequence":"first","affiliation":[{"name":"Departments of Neurologic Surgery and"},{"name":"First Faculty of Medicine, Charles University, Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly K.","family":"Amrami","sequence":"additional","affiliation":[{"name":"Radiology, Mayo Clinic, Rochester, Minnesota; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Spinner","sequence":"additional","affiliation":[{"name":"Departments of Neurologic Surgery and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"2","key":"b1","series-title":"Malays Orthop J","doi-asserted-by":"publisher","first-page":"136","DOI":"10.5704\/MOJ.2207.019","article-title":"Toe macrodactyly, macrodystrophia lipomatosa, fibrolipomatous hamartoma and lipomatosis of nerve. Are they similar? A case report","volume":"16","author":"Syed A","year":"2022","unstructured":"Syed A, Das S, Abdul-Rashid AH, Wan-Ahmad-Kamal W, Jamil K. Toe macrodactyly, macrodystrophia lipomatosa, fibrolipomatous hamartoma and lipomatosis of nerve. Are they similar? A case report. Malays Orthop J. 2022;16(2):136\u2013139.10.5704\/MOJ.2207.019"},{"issue":"4","key":"b2","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.3171\/2018.12.JNS183050","article-title":"Strengthening the association of lipomatosis of nerve and nerve-territory overgrowth: a systematic review","volume":"132","author":"Marek T","year":"2019","unstructured":"Marek T, Spinner RJ, Syal A, Mahan MA. Strengthening the association of lipomatosis of nerve and nerve-territory overgrowth: a systematic review. J Neurosurg. 2019;132(4):1286\u20131294.10.3171\/2018.12.JNS18305034820241"},{"issue":"3","key":"b3","series-title":"Mod Pathol","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/s41379-019-0354-1","article-title":"PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth","volume":"33","author":"Blackburn PR","year":"2020","unstructured":"Blackburn PR, Milosevic D, Marek T,  PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth. Mod Pathol. 2020;33(3):420\u2013430.10.1038\/s41379-019-0354-130362331"},{"issue":"2","key":"b4","series-title":"Am J Med Genet A","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1002\/ajmg.a.36836","article-title":"PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation","volume":"167A","author":"Keppler-Noreuil KM","year":"2015","unstructured":"Keppler-Noreuil KM, Rios JJ, Parker VE,  PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287\u2013295.10.1002\/ajmg.a.3683633851914"},{"issue":"3","key":"b5","series-title":"Acta Neurochir (Wien)","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1007\/s00701-020-04620-2","article-title":"What\u2019s known and what\u2019s new in adipose lesions of peripheral nerves?","volume":"163","author":"Marek T","year":"2021","unstructured":"Marek T, Mahan MA, Carter JM,  What\u2019s known and what\u2019s new in adipose lesions of peripheral nerves? Acta Neurochir (Wien). 2021;163(3):835\u2013842.10.1007\/s00701-020-04620-2"},{"key":"b6","series-title":"Pathology and Genetics of Tumours of Soft Tissue and Bone","volume":"Vol. 4","author":"Fletcher CD","year":"2002","unstructured":"Fletcher CD, Unni KK, Mertens F,  eds. Pathology and Genetics of Tumours of Soft Tissue and Bone (Vol. 4). IARC; 2002.34820241"},{"issue":"5","key":"b7","series-title":"J Bone Joint Surg Am","doi-asserted-by":"publisher","first-page":"984","DOI":"10.2106\/00004623-196951050-00016","article-title":"Lipofibromatous hamartoma of the median nerve","volume":"51","author":"Johnson RJ","year":"1969","unstructured":"Johnson RJ, Bonfiglio M. Lipofibromatous hamartoma of the median nerve. J Bone Joint Surg Am. 1969;51(5):984\u2013990.10.2106\/00004623-196951050-0001630362331"},{"issue":"1","key":"b8","series-title":"Am J Surg Pathol","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1097\/00000478-198501000-00004","article-title":"Fibrolipomatous hamartoma of nerve. A clinicopathologic analysis of 26 cases","volume":"9","author":"Silverman TA","year":"1985","unstructured":"Silverman TA, Enzinger FM. Fibrolipomatous hamartoma of nerve. A clinicopathologic analysis of 26 cases. Am J Surg Pathol. 1985;9(1):7\u201314.10.1097\/00000478-198501000-0000433851914"},{"issue":"11","key":"b9","series-title":"Foot Ankle Int","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1177\/107110079601701113","article-title":"Neural fibrolipoma of the foot: a case report","volume":"17","author":"Donley BG","year":"1996","unstructured":"Donley BG, Neel M, Mitias HM. Neural fibrolipoma of the foot: a case report. Foot Ankle Int. 1996;17(11):712\u2013713.10.1177\/107110079601701113"},{"issue":"6","key":"b10","series-title":"Scand J Plast Reconstr Surg Hand Surg","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1080\/02844310701822826","article-title":"Whether to excise a lipofibroma of the median nerve","volume":"43","author":"Yamauchi T","year":"2009","unstructured":"Yamauchi T, Yoshii T, Sempuku T. Whether to excise a lipofibroma of the median nerve. Scand J Plast Reconstr Surg Hand Surg. 2009;43(6):346\u2013349.10.1080\/02844310701822826"},{"issue":"11","key":"b11","series-title":"Acta Neurochir (Wien)","doi-asserted-by":"publisher","first-page":"2209","DOI":"10.1007\/s00701-018-3677-7","article-title":"Intraneural lipomas: institutional and literature review","volume":"160","author":"Marek T","year":"2018","unstructured":"Marek T, Amrami KK, Mahan MA, Spinner RJ. Intraneural lipomas: institutional and literature review. Acta Neurochir (Wien). 2018;160(11):2209\u20132218.10.1007\/s00701-018-3677-7"},{"issue":"2","key":"b12","series-title":"Virchows Arch Pathol Anat Physiol Klin Med","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1007\/BF01888444","article-title":"Makrodystrophia lipomatosa progressiva","volume":"260","author":"Feriz H","year":"1926","unstructured":"Feriz H. Makrodystrophia lipomatosa progressiva. Virchows Arch Pathol Anat Physiol Klin Med. 1926;260(2):308\u2013368.10.1007\/BF01888444"},{"key":"b13","series-title":"Int J Surg Case Rep","doi-asserted-by":"publisher","first-page":"106181","DOI":"10.1016\/j.ijscr.2021.106181","article-title":"Surgical management of macrodystrophia lipomatosa, a rare case report of the left hand middle finger macrodactyly","volume":"85","author":"Sumarwoto T","year":"2021","unstructured":"Sumarwoto T, Hadinoto SA, Idulhaq M, Santoso A, Abimanyu DR. Surgical management of macrodystrophia lipomatosa, a rare case report of the left hand middle finger macrodactyly. Int J Surg Case Rep. 2021;85:106181.10.1016\/j.ijscr.2021.106181"},{"issue":"8","key":"b14","series-title":"Clin Anat","doi-asserted-by":"publisher","first-page":"1210","DOI":"10.1002\/ca.23190","article-title":"Unrecognized lipomatosis of the femoral nerve and nerve-territory overgrowth","volume":"31","author":"Marek T","year":"2018","unstructured":"Marek T, Howe BM, Amrami KK, Taunton MJ, Spinner RJ. Unrecognized lipomatosis of the femoral nerve and nerve-territory overgrowth. Clin Anat. 2018;31(8):1210\u20131214.10.1002\/ca.23190"},{"issue":"5","key":"b15","series-title":"Skeletal Radiol","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1007\/s002560050512","article-title":"Fibrolipomatous hamartoma: pathognomonic on MR imaging","volume":"28","author":"Marom EM","year":"1999","unstructured":"Marom EM, Helms CA. Fibrolipomatous hamartoma: pathognomonic on MR imaging. Skeletal Radiol. 1999;28(5):260\u2013264.10.1007\/s002560050512"},{"key":"b16","series-title":"World Neurosurg","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1016\/j.wneu.2019.04.110","article-title":"Surgical treatment of lipomatosis of nerve: a systematic review","volume":"128","author":"Marek T","year":"2019","unstructured":"Marek T, Spinner RJ, Syal A, Wahood W, Mahan MA. Surgical treatment of lipomatosis of nerve: a systematic review. World Neurosurg. 2019;128:587\u2013592.e2.10.1016\/j.wneu.2019.04.110"},{"issue":"1","key":"b17","series-title":"Orphanet J Rare Dis","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1186\/s13023-021-01929-8","article-title":"A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations","volume":"16","author":"Canaud G","year":"2021","unstructured":"Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet J Rare Dis. 2021;16(1):306.10.1186\/s13023-021-01929-8"},{"issue":"1","key":"b18","series-title":"Case Reports Plast Surg Hand Surg","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/23320885.2021.1872380","article-title":"A patient with macrodystrophia lipomatosa bilaterally affecting the entire upper extremity: reporting of a rare case and literature review","volume":"8","author":"Baba K","year":"2021","unstructured":"Baba K, Kashiwagi S, Nemoto M, Takeda A, Fukumoto K, Uchinuma E. A patient with macrodystrophia lipomatosa bilaterally affecting the entire upper extremity: reporting of a rare case and literature review. Case Reports Plast Surg Hand Surg. 2021;8(1):1\u20137.10.1080\/23320885.2021.1872380"},{"issue":"10","key":"b19","series-title":"Cureus","first-page":"e18986","article-title":"Macrodystrophia lipomatosa: a rare cause of bilateral lower limb gigantism","volume":"13","author":"Biswas DN","year":"2021","unstructured":"Biswas DN, Dhali A, Parvin S, Singh A, Dhali GK. Macrodystrophia lipomatosa: a rare cause of bilateral lower limb gigantism. Cureus. 2021;13(10):e18986."},{"issue":"5","key":"b20","series-title":"Clin Exp Dermatol","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1111\/ced.14540","article-title":"Macrodystrophia lipomatosa of the left hallux","volume":"46","author":"Cotter C","year":"2021","unstructured":"Cotter C, Elias D, Pruneddu S. Macrodystrophia lipomatosa of the left hallux. Clin Exp Dermatol. 2021;46(5):974\u2013976.10.1111\/ced.14540"},{"issue":"5","key":"b21","series-title":"J Bone Jt Infect","doi-asserted-by":"publisher","first-page":"141","DOI":"10.5194\/jbji-6-141-2021","article-title":"Osteomyelitis in heterotopic ossification in a patient with congenital gigantism of the leg","volume":"6","author":"Galea Wismayer M","year":"2021","unstructured":"Galea Wismayer M, Sant K, Giordmaina R, McNally M. Osteomyelitis in heterotopic ossification in a patient with congenital gigantism of the leg. J Bone Jt Infect. 2021;6(5):141\u2013145.10.5194\/jbji-6-141-2021"},{"issue":"5","key":"b22","series-title":"Indian J Dermatol","doi-asserted-by":"publisher","first-page":"409","DOI":"10.4103\/ijd.IJD_537_18","article-title":"A child with enlarged extremities\u2014a case of macrodystrophia lipomatosa","volume":"65","author":"Gunasekaran K","year":"2020","unstructured":"Gunasekaran K, Sundareswaran N, Gopinath G. A child with enlarged extremities\u2014a case of macrodystrophia lipomatosa. Indian J Dermatol. 2020;65(5):409\u2013413.10.4103\/ijd.IJD_537_18"},{"issue":"4","key":"b23","series-title":"Natl Med J India","doi-asserted-by":"publisher","first-page":"250","DOI":"10.4103\/0970-258X.316260","article-title":"Macrodystrophia lipomatosa: a rare form of localized gigantism","volume":"33","author":"Ilyas M","year":"2020","unstructured":"Ilyas M, Ahmad Z, Choh N. Macrodystrophia lipomatosa: a rare form of localized gigantism. Natl Med J India. 2020;33(4):250.10.4103\/0970-258X.316260"},{"key":"b24","series-title":"JPRAS Open","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1016\/j.jpra.2020.10.002","article-title":"Surgical management for isolated macrodactyly in an adult PIK3CA mutant","volume":"26","author":"Jacobs CJ","year":"2020","unstructured":"Jacobs CJ, Vreeburg M, de Die-Smulders CEM, Staal HM, Lauwers T. Surgical management for isolated macrodactyly in an adult PIK3CA mutant. JPRAS Open. 2020;26:86\u201390.10.1016\/j.jpra.2020.10.002"},{"issue":"2","key":"b25","series-title":"JBJS Case Connect","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.CC.20.00821","article-title":"Macrodystrophia lipomatosa of thoracic spine causing progressive neurodeficit: a case report and review of literature","volume":"11","author":"Jakkepally S","year":"2021","unstructured":"Jakkepally S, Viswanathan VK, Shetty AP, Pushpa BT, Kanna RM, Rajasekaran S. Macrodystrophia lipomatosa of thoracic spine causing progressive neurodeficit: a case report and review of literature. JBJS Case Connect. 2021;11(2).10.2106\/JBJS.CC.20.00821"},{"issue":"1","key":"b26","series-title":"Balkan Med J","first-page":"60","article-title":"Unilateral type of macrodystrophia lipomatosa of the thumb, index finger, and thenar","volume":"36","author":"Kavecan I","year":"2019","unstructured":"Kavecan I, Obrenovic M, Privrodski B, Kavecan DE, Golusin Z. Unilateral type of macrodystrophia lipomatosa of the thumb, index finger, and thenar. Balkan Med J. 2019;36(1):60\u201361."},{"issue":"5","key":"b27","series-title":"BMJ Case Rep","doi-asserted-by":"publisher","first-page":"e229464","DOI":"10.1136\/bcr-2019-229464","article-title":"Macrodystrophia lipomatosa of the foot","volume":"12","author":"Malla S","year":"2019","unstructured":"Malla S, Razik A, Das CJ. Macrodystrophia lipomatosa of the foot. BMJ Case Rep. 2019;12(5):e229464.10.1136\/bcr-2019-229464"},{"issue":"4","key":"b28","series-title":"Arch Plast Surg","doi-asserted-by":"publisher","first-page":"392","DOI":"10.5999\/aps.2019.00339","article-title":"Macrodystrophia lipomatosa of bilateral hands and the left upper limb with syndactyly","volume":"46","author":"Oh SJ","year":"2019","unstructured":"Oh SJ. Macrodystrophia lipomatosa of bilateral hands and the left upper limb with syndactyly. Arch Plast Surg. 2019;46(4):392\u2013393.10.5999\/aps.2019.00339"},{"issue":"4","key":"b29","series-title":"Sultan Qaboos Univ Med J","doi-asserted-by":"publisher","first-page":"e553","DOI":"10.18295\/squmj.2018.18.04.023","article-title":"An adolescent with progressive enlargement of digits: case report and proposed diagnostic criteria for macrodystrophia lipomatosa","volume":"18","author":"Paul BJ","year":"2018","unstructured":"Paul BJ, Raveendran AV. An adolescent with progressive enlargement of digits: case report and proposed diagnostic criteria for macrodystrophia lipomatosa. Sultan Qaboos Univ Med J. 2018;18(4):e553\u2013e556.10.18295\/squmj.2018.18.04.023"},{"key":"b30","series-title":"J Clin Imaging Sci","doi-asserted-by":"publisher","first-page":"4","DOI":"10.25259\/JCIS-9-4","article-title":"Macrodystrophia lipomatosa: a single large radiological study of a rare entity","volume":"9","author":"Prabhu CS","year":"2019","unstructured":"Prabhu CS, Madhavi K, Amogh VN, Panwala HK, Sathyakumar K. Macrodystrophia lipomatosa: a single large radiological study of a rare entity. J Clin Imaging Sci. 2019;9:4.10.25259\/JCIS-9-4"},{"issue":"1","key":"b31","series-title":"Rheumatology (Oxford)","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1093\/rheumatology\/keab314","article-title":"Late presentation of macrodystrophia lipomatosa\u2014a rare, impressive diagnosis","volume":"61","author":"Silv\u00e9rio-Ant\u00f3nio M","year":"2021","unstructured":"Silv\u00e9rio-Ant\u00f3nio M, Rom\u00e3o VC, Polido-Pereira J. Late presentation of macrodystrophia lipomatosa\u2014a rare, impressive diagnosis. Rheumatology (Oxford). 2021;61(1):469\u2013470.10.1093\/rheumatology\/keab314"},{"issue":"2","key":"b32","series-title":"JBJS Case Connect","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.CC.20.00785","article-title":"Macrodystrophia lipomatosa of the foot: a case report of MRI and histologic findings including Pacinian corpuscle abnormalities","volume":"11","author":"Southard EJ","year":"2021","unstructured":"Southard EJ, Sands AK, Boyajian DA, Sieczka E, Bryk E, Vigorita VJ. Macrodystrophia lipomatosa of the foot: a case report of MRI and histologic findings including Pacinian corpuscle abnormalities. JBJS Case Connect. 2021;11(2).10.2106\/JBJS.CC.20.00785"},{"issue":"1","key":"b33","series-title":"Sudan J Paediatr","doi-asserted-by":"publisher","first-page":"62","DOI":"10.24911\/SJP.106-1570297771","article-title":"Macrodystrophia lipomatosa with fibrolipomatous hamartoma of medial plantar nerve and lipomatosis of thigh","volume":"20","author":"Yadav T","year":"2020","unstructured":"Yadav T, Mirza G, Khera PS, Garg P. Macrodystrophia lipomatosa with fibrolipomatous hamartoma of medial plantar nerve and lipomatosis of thigh. Sudan J Paediatr. 2020;20(1):62\u201367.10.24911\/SJP.106-1570297771"},{"issue":"1","key":"b34","series-title":"Plast Reconstr Surg","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1097\/PRS.0000000000004455","article-title":"Lipomatosis of nerve: more than a focal distal disease","volume":"142","author":"Wehrli L","year":"2018","unstructured":"Wehrli L, Saheb-Al-Zamani M, Khanna M, Lax MJ, Anastakis DJ. Lipomatosis of nerve: more than a focal distal disease. Plast Reconstr Surg. 2018;142(1):148\u2013151.10.1097\/PRS.0000000000004455"},{"issue":"1","key":"b35","series-title":"J Surg Orthop Adv","first-page":"44","article-title":"Bilateral nerve involvement in lipomatosis of nerve","volume":"30","author":"Marek T","year":"2021","unstructured":"Marek T, Amrami KK, Spinner RJ, Mahan MA. Bilateral nerve involvement in lipomatosis of nerve. J Surg Orthop Adv. 2021;30(1):44\u201349."},{"issue":"7","key":"b36","series-title":"Radiographics","doi-asserted-by":"publisher","first-page":"2069","DOI":"10.1148\/rg.287085167","article-title":"Oncodiagnosis panel: 2007: multidisciplinary management of soft-tissue sarcoma","volume":"28","author":"Robinson E","year":"2008","unstructured":"Robinson E, Bleakney RR, Ferguson PC, O\u2019Sullivan B. Oncodiagnosis panel: 2007: multidisciplinary management of soft-tissue sarcoma. Radiographics. 2008;28(7):2069\u20132086.10.1148\/rg.287085167"},{"key":"b37","series-title":"World Neurosurg","doi-asserted-by":"publisher","first-page":"e555","DOI":"10.1016\/j.wneu.2019.05.213","article-title":"Can lipomatosis of the nerve occur or extend intradurally?","volume":"129","author":"Marek T","year":"2019","unstructured":"Marek T, Mahan MA, Carter JM, Amrami KK, Atkinson JLD, Spinner RJ. Can lipomatosis of the nerve occur or extend intradurally? World Neurosurg. 2019;129:e555\u2013e560.10.1016\/j.wneu.2019.05.213"},{"issue":"4","key":"b38","series-title":"Brain Pathol","doi-asserted-by":"publisher","first-page":"e13057","DOI":"10.1111\/bpa.13057","article-title":"Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: result of a mosaic PIK3CA mutation in the para-axial mesoderm state","volume":"32","author":"Ebner BA","year":"2022","unstructured":"Ebner BA, Eschbacher KL, Jack MM, Dragana M, Spinner RJ, Giannini C. Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: result of a mosaic PIK3CA mutation in the para-axial mesoderm state. Brain Pathol. 2022;32(4):e13057.10.1111\/bpa.13057"},{"issue":"2","key":"b1","series-title":"Malays Orthop J","doi-asserted-by":"publisher","first-page":"136","DOI":"10.5704\/MOJ.2207.019","article-title":"Toe macrodactyly, macrodystrophia lipomatosa, fibrolipomatous hamartoma and lipomatosis of nerve. Are they similar? A case report","volume":"16","author":"Syed A","year":"2022","unstructured":"Syed A, Das S, Abdul-Rashid AH, Wan-Ahmad-Kamal W, Jamil K. Toe macrodactyly, macrodystrophia lipomatosa, fibrolipomatous hamartoma and lipomatosis of nerve. Are they similar? A case report. Malays Orthop J. 2022;16(2):136\u2013139.10.5704\/MOJ.2207.019"},{"issue":"4","key":"b2","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.3171\/2018.12.JNS183050","article-title":"Strengthening the association of lipomatosis of nerve and nerve-territory overgrowth: a systematic review","volume":"132","author":"Marek T","year":"2019","unstructured":"Marek T, Spinner RJ, Syal A, Mahan MA. Strengthening the association of lipomatosis of nerve and nerve-territory overgrowth: a systematic review. J Neurosurg. 2019;132(4):1286\u20131294.10.3171\/2018.12.JNS183050"},{"issue":"3","key":"b3","series-title":"Mod Pathol","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/s41379-019-0354-1","article-title":"PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth","volume":"33","author":"Blackburn PR","year":"2020","unstructured":"Blackburn PR, Milosevic D, Marek T,  PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth. Mod Pathol. 2020;33(3):420\u2013430.10.1038\/s41379-019-0354-1"},{"issue":"2","key":"b4","series-title":"Am J Med Genet A","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1002\/ajmg.a.36836","article-title":"PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation","volume":"167A","author":"Keppler-Noreuil KM","year":"2015","unstructured":"Keppler-Noreuil KM, Rios JJ, Parker VE,  PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287\u2013295.10.1002\/ajmg.a.36836"},{"issue":"3","key":"b5","series-title":"Acta Neurochir (Wien)","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1007\/s00701-020-04620-2","article-title":"What\u2019s known and what\u2019s new in adipose lesions of peripheral nerves?","volume":"163","author":"Marek T","year":"2021","unstructured":"Marek T, Mahan MA, Carter JM,  What\u2019s known and what\u2019s new in adipose lesions of peripheral nerves? Acta Neurochir (Wien). 2021;163(3):835\u2013842.10.1007\/s00701-020-04620-2"},{"key":"b6","series-title":"Pathology and Genetics of Tumours of Soft Tissue and Bone","volume":"Vol. 4","author":"Fletcher CD","year":"2002","unstructured":"Fletcher CD, Unni KK, Mertens F,  eds. Pathology and Genetics of Tumours of Soft Tissue and Bone (Vol. 4). IARC; 2002."},{"issue":"5","key":"b7","series-title":"J Bone Joint Surg Am","doi-asserted-by":"publisher","first-page":"984","DOI":"10.2106\/00004623-196951050-00016","article-title":"Lipofibromatous hamartoma of the median nerve","volume":"51","author":"Johnson RJ","year":"1969","unstructured":"Johnson RJ, Bonfiglio M. Lipofibromatous hamartoma of the median nerve. J Bone Joint Surg Am. 1969;51(5):984\u2013990.10.2106\/00004623-196951050-00016"},{"issue":"1","key":"b8","series-title":"Am J Surg Pathol","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1097\/00000478-198501000-00004","article-title":"Fibrolipomatous hamartoma of nerve. A clinicopathologic analysis of 26 cases","volume":"9","author":"Silverman TA","year":"1985","unstructured":"Silverman TA, Enzinger FM. Fibrolipomatous hamartoma of nerve. A clinicopathologic analysis of 26 cases. Am J Surg Pathol. 1985;9(1):7\u201314.10.1097\/00000478-198501000-00004"},{"issue":"11","key":"b9","series-title":"Foot Ankle Int","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1177\/107110079601701113","article-title":"Neural fibrolipoma of the foot: a case report","volume":"17","author":"Donley BG","year":"1996","unstructured":"Donley BG, Neel M, Mitias HM. Neural fibrolipoma of the foot: a case report. Foot Ankle Int. 1996;17(11):712\u2013713.10.1177\/107110079601701113"},{"issue":"6","key":"b10","series-title":"Scand J Plast Reconstr Surg Hand Surg","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1080\/02844310701822826","article-title":"Whether to excise a lipofibroma of the median nerve","volume":"43","author":"Yamauchi T","year":"2009","unstructured":"Yamauchi T, Yoshii T, Sempuku T. Whether to excise a lipofibroma of the median nerve. Scand J Plast Reconstr Surg Hand Surg. 2009;43(6):346\u2013349.10.1080\/02844310701822826"},{"issue":"11","key":"b11","series-title":"Acta Neurochir (Wien)","doi-asserted-by":"publisher","first-page":"2209","DOI":"10.1007\/s00701-018-3677-7","article-title":"Intraneural lipomas: institutional and literature review","volume":"160","author":"Marek T","year":"2018","unstructured":"Marek T, Amrami KK, Mahan MA, Spinner RJ. Intraneural lipomas: institutional and literature review. Acta Neurochir (Wien). 2018;160(11):2209\u20132218.10.1007\/s00701-018-3677-7"},{"issue":"2","key":"b12","series-title":"Virchows Arch Pathol Anat Physiol Klin Med","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1007\/BF01888444","article-title":"Makrodystrophia lipomatosa progressiva","volume":"260","author":"Feriz H","year":"1926","unstructured":"Feriz H. Makrodystrophia lipomatosa progressiva. Virchows Arch Pathol Anat Physiol Klin Med. 1926;260(2):308\u2013368.10.1007\/BF01888444"},{"key":"b13","series-title":"Int J Surg Case Rep","doi-asserted-by":"publisher","first-page":"106181","DOI":"10.1016\/j.ijscr.2021.106181","article-title":"Surgical management of macrodystrophia lipomatosa, a rare case report of the left hand middle finger macrodactyly","volume":"85","author":"Sumarwoto T","year":"2021","unstructured":"Sumarwoto T, Hadinoto SA, Idulhaq M, Santoso A, Abimanyu DR. Surgical management of macrodystrophia lipomatosa, a rare case report of the left hand middle finger macrodactyly. Int J Surg Case Rep. 2021;85:106181.10.1016\/j.ijscr.2021.106181"},{"issue":"8","key":"b14","series-title":"Clin Anat","doi-asserted-by":"publisher","first-page":"1210","DOI":"10.1002\/ca.23190","article-title":"Unrecognized lipomatosis of the femoral nerve and nerve-territory overgrowth","volume":"31","author":"Marek T","year":"2018","unstructured":"Marek T, Howe BM, Amrami KK, Taunton MJ, Spinner RJ. Unrecognized lipomatosis of the femoral nerve and nerve-territory overgrowth. Clin Anat. 2018;31(8):1210\u20131214.10.1002\/ca.23190"},{"issue":"5","key":"b15","series-title":"Skeletal Radiol","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1007\/s002560050512","article-title":"Fibrolipomatous hamartoma: pathognomonic on MR imaging","volume":"28","author":"Marom EM","year":"1999","unstructured":"Marom EM, Helms CA. Fibrolipomatous hamartoma: pathognomonic on MR imaging. Skeletal Radiol. 1999;28(5):260\u2013264.10.1007\/s002560050512"},{"key":"b16","series-title":"World Neurosurg","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1016\/j.wneu.2019.04.110","article-title":"Surgical treatment of lipomatosis of nerve: a systematic review","volume":"128","author":"Marek T","year":"2019","unstructured":"Marek T, Spinner RJ, Syal A, Wahood W, Mahan MA. Surgical treatment of lipomatosis of nerve: a systematic review. World Neurosurg. 2019;128:587\u2013592.e2.10.1016\/j.wneu.2019.04.110"},{"issue":"1","key":"b17","series-title":"Orphanet J Rare Dis","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1186\/s13023-021-01929-8","article-title":"A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations","volume":"16","author":"Canaud G","year":"2021","unstructured":"Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet J Rare Dis. 2021;16(1):306.10.1186\/s13023-021-01929-8"},{"issue":"1","key":"b18","series-title":"Case Reports Plast Surg Hand Surg","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/23320885.2021.1872380","article-title":"A patient with macrodystrophia lipomatosa bilaterally affecting the entire upper extremity: reporting of a rare case and literature review","volume":"8","author":"Baba K","year":"2021","unstructured":"Baba K, Kashiwagi S, Nemoto M, Takeda A, Fukumoto K, Uchinuma E. A patient with macrodystrophia lipomatosa bilaterally affecting the entire upper extremity: reporting of a rare case and literature review. Case Reports Plast Surg Hand Surg. 2021;8(1):1\u20137.10.1080\/23320885.2021.1872380"},{"issue":"10","key":"b19","series-title":"Cureus","first-page":"e18986","article-title":"Macrodystrophia lipomatosa: a rare cause of bilateral lower limb gigantism","volume":"13","author":"Biswas DN","year":"2021","unstructured":"Biswas DN, Dhali A, Parvin S, Singh A, Dhali GK. Macrodystrophia lipomatosa: a rare cause of bilateral lower limb gigantism. Cureus. 2021;13(10):e18986."},{"issue":"5","key":"b20","series-title":"Clin Exp Dermatol","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1111\/ced.14540","article-title":"Macrodystrophia lipomatosa of the left hallux","volume":"46","author":"Cotter C","year":"2021","unstructured":"Cotter C, Elias D, Pruneddu S. Macrodystrophia lipomatosa of the left hallux. Clin Exp Dermatol. 2021;46(5):974\u2013976.10.1111\/ced.14540"},{"issue":"5","key":"b21","series-title":"J Bone Jt Infect","doi-asserted-by":"publisher","first-page":"141","DOI":"10.5194\/jbji-6-141-2021","article-title":"Osteomyelitis in heterotopic ossification in a patient with congenital gigantism of the leg","volume":"6","author":"Galea Wismayer M","year":"2021","unstructured":"Galea Wismayer M, Sant K, Giordmaina R, McNally M. Osteomyelitis in heterotopic ossification in a patient with congenital gigantism of the leg. J Bone Jt Infect. 2021;6(5):141\u2013145.10.5194\/jbji-6-141-2021"},{"issue":"5","key":"b22","series-title":"Indian J Dermatol","doi-asserted-by":"publisher","first-page":"409","DOI":"10.4103\/ijd.IJD_537_18","article-title":"A child with enlarged extremities\u2014a case of macrodystrophia lipomatosa","volume":"65","author":"Gunasekaran K","year":"2020","unstructured":"Gunasekaran K, Sundareswaran N, Gopinath G. A child with enlarged extremities\u2014a case of macrodystrophia lipomatosa. Indian J Dermatol. 2020;65(5):409\u2013413.10.4103\/ijd.IJD_537_18"},{"issue":"4","key":"b23","series-title":"Natl Med J India","doi-asserted-by":"publisher","first-page":"250","DOI":"10.4103\/0970-258X.316260","article-title":"Macrodystrophia lipomatosa: a rare form of localized gigantism","volume":"33","author":"Ilyas M","year":"2020","unstructured":"Ilyas M, Ahmad Z, Choh N. Macrodystrophia lipomatosa: a rare form of localized gigantism. Natl Med J India. 2020;33(4):250.10.4103\/0970-258X.316260"},{"key":"b24","series-title":"JPRAS Open","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1016\/j.jpra.2020.10.002","article-title":"Surgical management for isolated macrodactyly in an adult PIK3CA mutant","volume":"26","author":"Jacobs CJ","year":"2020","unstructured":"Jacobs CJ, Vreeburg M, de Die-Smulders CEM, Staal HM, Lauwers T. Surgical management for isolated macrodactyly in an adult PIK3CA mutant. JPRAS Open. 2020;26:86\u201390.10.1016\/j.jpra.2020.10.002"},{"issue":"2","key":"b25","series-title":"JBJS Case Connect","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.CC.20.00821","article-title":"Macrodystrophia lipomatosa of thoracic spine causing progressive neurodeficit: a case report and review of literature","volume":"11","author":"Jakkepally S","year":"2021","unstructured":"Jakkepally S, Viswanathan VK, Shetty AP, Pushpa BT, Kanna RM, Rajasekaran S. Macrodystrophia lipomatosa of thoracic spine causing progressive neurodeficit: a case report and review of literature. JBJS Case Connect. 2021;11(2).10.2106\/JBJS.CC.20.00821"},{"issue":"1","key":"b26","series-title":"Balkan Med J","first-page":"60","article-title":"Unilateral type of macrodystrophia lipomatosa of the thumb, index finger, and thenar","volume":"36","author":"Kavecan I","year":"2019","unstructured":"Kavecan I, Obrenovic M, Privrodski B, Kavecan DE, Golusin Z. Unilateral type of macrodystrophia lipomatosa of the thumb, index finger, and thenar. Balkan Med J. 2019;36(1):60\u201361."},{"issue":"5","key":"b27","series-title":"BMJ Case Rep","doi-asserted-by":"publisher","first-page":"e229464","DOI":"10.1136\/bcr-2019-229464","article-title":"Macrodystrophia lipomatosa of the foot","volume":"12","author":"Malla S","year":"2019","unstructured":"Malla S, Razik A, Das CJ. Macrodystrophia lipomatosa of the foot. BMJ Case Rep. 2019;12(5):e229464.10.1136\/bcr-2019-229464"},{"issue":"4","key":"b28","series-title":"Arch Plast Surg","doi-asserted-by":"publisher","first-page":"392","DOI":"10.5999\/aps.2019.00339","article-title":"Macrodystrophia lipomatosa of bilateral hands and the left upper limb with syndactyly","volume":"46","author":"Oh SJ","year":"2019","unstructured":"Oh SJ. Macrodystrophia lipomatosa of bilateral hands and the left upper limb with syndactyly. Arch Plast Surg. 2019;46(4):392\u2013393.10.5999\/aps.2019.00339"},{"issue":"4","key":"b29","series-title":"Sultan Qaboos Univ Med J","doi-asserted-by":"publisher","first-page":"e553","DOI":"10.18295\/squmj.2018.18.04.023","article-title":"An adolescent with progressive enlargement of digits: case report and proposed diagnostic criteria for macrodystrophia lipomatosa","volume":"18","author":"Paul BJ","year":"2018","unstructured":"Paul BJ, Raveendran AV. An adolescent with progressive enlargement of digits: case report and proposed diagnostic criteria for macrodystrophia lipomatosa. Sultan Qaboos Univ Med J. 2018;18(4):e553\u2013e556.10.18295\/squmj.2018.18.04.023"},{"key":"b30","series-title":"J Clin Imaging Sci","doi-asserted-by":"publisher","first-page":"4","DOI":"10.25259\/JCIS-9-4","article-title":"Macrodystrophia lipomatosa: a single large radiological study of a rare entity","volume":"9","author":"Prabhu CS","year":"2019","unstructured":"Prabhu CS, Madhavi K, Amogh VN, Panwala HK, Sathyakumar K. Macrodystrophia lipomatosa: a single large radiological study of a rare entity. J Clin Imaging Sci. 2019;9:4.10.25259\/JCIS-9-4"},{"issue":"1","key":"b31","series-title":"Rheumatology (Oxford)","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1093\/rheumatology\/keab314","article-title":"Late presentation of macrodystrophia lipomatosa\u2014a rare, impressive diagnosis","volume":"61","author":"Silv\u00e9rio-Ant\u00f3nio M","year":"2021","unstructured":"Silv\u00e9rio-Ant\u00f3nio M, Rom\u00e3o VC, Polido-Pereira J. Late presentation of macrodystrophia lipomatosa\u2014a rare, impressive diagnosis. Rheumatology (Oxford). 2021;61(1):469\u2013470.10.1093\/rheumatology\/keab314"},{"issue":"2","key":"b32","series-title":"JBJS Case Connect","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.CC.20.00785","article-title":"Macrodystrophia lipomatosa of the foot: a case report of MRI and histologic findings including Pacinian corpuscle abnormalities","volume":"11","author":"Southard EJ","year":"2021","unstructured":"Southard EJ, Sands AK, Boyajian DA, Sieczka E, Bryk E, Vigorita VJ. Macrodystrophia lipomatosa of the foot: a case report of MRI and histologic findings including Pacinian corpuscle abnormalities. JBJS Case Connect. 2021;11(2).10.2106\/JBJS.CC.20.00785"},{"issue":"1","key":"b33","series-title":"Sudan J Paediatr","doi-asserted-by":"publisher","first-page":"62","DOI":"10.24911\/SJP.106-1570297771","article-title":"Macrodystrophia lipomatosa with fibrolipomatous hamartoma of medial plantar nerve and lipomatosis of thigh","volume":"20","author":"Yadav T","year":"2020","unstructured":"Yadav T, Mirza G, Khera PS, Garg P. Macrodystrophia lipomatosa with fibrolipomatous hamartoma of medial plantar nerve and lipomatosis of thigh. Sudan J Paediatr. 2020;20(1):62\u201367.10.24911\/SJP.106-1570297771"},{"issue":"1","key":"b34","series-title":"Plast Reconstr Surg","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1097\/PRS.0000000000004455","article-title":"Lipomatosis of nerve: more than a focal distal disease","volume":"142","author":"Wehrli L","year":"2018","unstructured":"Wehrli L, Saheb-Al-Zamani M, Khanna M, Lax MJ, Anastakis DJ. Lipomatosis of nerve: more than a focal distal disease. Plast Reconstr Surg. 2018;142(1):148\u2013151.10.1097\/PRS.0000000000004455"},{"issue":"1","key":"b35","series-title":"J Surg Orthop Adv","first-page":"44","article-title":"Bilateral nerve involvement in lipomatosis of nerve","volume":"30","author":"Marek T","year":"2021","unstructured":"Marek T, Amrami KK, Spinner RJ, Mahan MA. Bilateral nerve involvement in lipomatosis of nerve. J Surg Orthop Adv. 2021;30(1):44\u201349."},{"issue":"7","key":"b36","series-title":"Radiographics","doi-asserted-by":"publisher","first-page":"2069","DOI":"10.1148\/rg.287085167","article-title":"Oncodiagnosis panel: 2007: multidisciplinary management of soft-tissue sarcoma","volume":"28","author":"Robinson E","year":"2008","unstructured":"Robinson E, Bleakney RR, Ferguson PC, O\u2019Sullivan B. Oncodiagnosis panel: 2007: multidisciplinary management of soft-tissue sarcoma. Radiographics. 2008;28(7):2069\u20132086.10.1148\/rg.287085167"},{"key":"b37","series-title":"World Neurosurg","doi-asserted-by":"publisher","first-page":"e555","DOI":"10.1016\/j.wneu.2019.05.213","article-title":"Can lipomatosis of the nerve occur or extend intradurally?","volume":"129","author":"Marek T","year":"2019","unstructured":"Marek T, Mahan MA, Carter JM, Amrami KK, Atkinson JLD, Spinner RJ. Can lipomatosis of the nerve occur or extend intradurally? World Neurosurg. 2019;129:e555\u2013e560.10.1016\/j.wneu.2019.05.213"},{"issue":"4","key":"b38","series-title":"Brain Pathol","doi-asserted-by":"publisher","first-page":"e13057","DOI":"10.1111\/bpa.13057","article-title":"Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: result of a mosaic PIK3CA mutation in the para-axial mesoderm state","volume":"32","author":"Ebner BA","year":"2022","unstructured":"Ebner BA, Eschbacher KL, Jack MM, Dragana M, Spinner RJ, Giannini C. Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: result of a mosaic PIK3CA mutation in the para-axial mesoderm state. Brain Pathol. 2022;32(4):e13057.10.1111\/bpa.13057"}],"container-title":["Journal of Neurosurgery: Case Lessons"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/5\/2\/article-CASE22463.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/5\/2\/article-CASE22463.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/5\/2\/article-CASE22463.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T14:29:59Z","timestamp":1770301799000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/5\/2\/article-CASE22463.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,9]]},"references-count":76,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.3171\/case22463","relation":{},"ISSN":["2694-1902"],"issn-type":[{"value":"2694-1902","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,9]]}}}