Late-Onset Melorheostosis: A Case Report

被引:0
作者
Vo, Thanh Toan [1 ]
To, Kha [1 ,2 ,3 ,4 ]
Dang, Thanh Nghia [3 ]
Vo, Toan Phuc [5 ]
Nguyen, Duc Thien [1 ,3 ]
Nguyen, Duc Cong [6 ]
Nguyen, Manh Khanh [7 ]
Nguyen, Van Thai [8 ]
机构
[1] Thong Nhat Hosp, Trauma & Orthoped Dept, Ho Chi Minh City, Vietnam
[2] UCL, Div Surg & Intervent Sci, London, England
[3] Vietnam Natl Univ Ho Chi Minh City, Sch Med, Ho Chi Minh City, Vietnam
[4] UCL, Inst Sport Exercise & Hlth, London, England
[5] St Marks Sch, Southborough, MA USA
[6] Pham Ngoc Thach Med Univ, Dept Geriatr, Ho Chi Minh City, Vietnam
[7] Vietduc Univ Hosp, Dept Orthopaed & Trauma, Hanoi, Vietnam
[8] Pham Ngoc Thach Med Univ, Dept Orthopaed & Trauma, Ho Chi Minh City, Vietnam
关键词
Melorheostosis; Chronic edema; Dripping candle wax; Leri disease; Hyperostosis;
D O I
10.1159/000534241
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Melorheostosis is a rare benign bone pathology involving bone dysplasia and hyperostosis. The disease can be recognized with a characteristic radiographic feature of radiopaque lesions dripping along a long bone's diaphysis. The aberrant bone formation and development manifests mainly as pain, edema, and paresthesia of the affected limb. Severe cases may report limb deformity as well as limited range of motion. Until now, there have been approximately 300 cases reported about melorheostosis worldwide and its diverse clinical picture and age distribution. In Vietnam, there is only one known case of melorheostosis discovered incidentally via radiography. The scarcity of cases presents a challenge within the medical community in recognizing and diagnosing the condition, and a delayed diagnosis can lead to severe contracture and compromised limb motility. In this article, we reported an 82-year-old case of polyostotic melorheostosis with late onset and predominant edema, affecting the sternum, the ribs, and multiple bones of the right extremities and presented our clinical approach for a geriatric patient with chronic limb edema. Our case is distinctive in terms of anatomical location as well as the predominant 20-year non-pitting edema. A prompt diagnosis was made upon the classic dripping candle wax radiographic features emphasizing the role of plain X-ray in establishing the diagnosis without extraneous utilization of other modalities and invasive procedures. Exclusion of other causes of chronic edema such as lymphadenopathy, malignancy as well as parasitic infection is of clinical importance.
引用
收藏
页码:1237 / 1244
页数:8
相关论文
共 14 条
[1]  
Andronikou S., 2001, S Afr J Radiol, V5, P42
[2]  
Artner J., 2012, Journal of Musculoskeletal Research, V15, P1230002, DOI 10.1142/S0218957712300025
[3]   Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis [J].
Hellemans, J ;
Preobrazhenska, O ;
Willaert, A ;
Debeer, P ;
Verdonk, PCM ;
Costa, T ;
Janssens, K ;
Menten, B ;
Van Roy, N ;
Vermeulen, SJT ;
Savarirayan, R ;
Van Hul, W ;
Vanhoenacker, F ;
Huylebroeck, D ;
De Paepe, A ;
Naeyaert, JM ;
Vandesompele, J ;
Speleman, F ;
Verschueren, K ;
Coucke, PJ ;
Mortier, GR .
NATURE GENETICS, 2004, 36 (11) :1213-1218
[4]   Sclerosing Bone Dysplasias: Review and Differentiation from Other Causes of Osteosclerosis [J].
Ihde, Lauren L. ;
Forrester, Deborah M. ;
Gottsegen, Christopher J. ;
Masih, Sulabha ;
Patel, Dakshesh B. ;
Vachon, Linda A. ;
White, Eric A. ;
Matcuk, George R., Jr. .
RADIOGRAPHICS, 2011, 31 (07) :1865-1882
[5]   Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway [J].
Kang, Heeseog ;
Jha, Smita ;
Ivovic, Aleksandra ;
Fratzl-Zelman, Nadja ;
Deng, Zuoming ;
Mitra, Apratim ;
Cabral, Wayne A. ;
Hanson, Eric P. ;
Lange, Eileen ;
Cowen, Edward W. ;
Katz, James ;
Roschger, Paul ;
Klaushofer, Klaus ;
Dale, Ryan K. ;
Siegel, Richard M. ;
Bhattacharyya, Timothy ;
Marini, Joan C. .
JOURNAL OF EXPERIMENTAL MEDICINE, 2020, 217 (05)
[6]   Somatic activating mutations in MAP2K1 cause melorheostosis [J].
Kang, Heeseog ;
Jha, Smita ;
Deng, Zuoming ;
Fratzl-Zelman, Nadja ;
Cabral, Wayne A. ;
Ivovic, Aleksandra ;
Meylan, Francoise ;
Hanson, Eric P. ;
Lange, Eileen ;
Katz, James ;
Roschger, Paul ;
Klaushofer, Klaus ;
Cowen, Edward W. ;
Siegel, Richard M. ;
Marini, Joan C. ;
Bhattacharyya, Timothy .
NATURE COMMUNICATIONS, 2018, 9
[7]   Melorheostosis: a Rare Sclerosing Bone Dysplasia [J].
Kotwal, Anupam ;
Clarke, Bart L. .
CURRENT OSTEOPOROSIS REPORTS, 2017, 15 (04) :335-342
[8]   Case Report: Severe Melorheostosis Involving the Ipsilateral Extremities [J].
Long, Hai-Tao ;
Li, Kang-Hua ;
Zhu, Yong .
CLINICAL ORTHOPAEDICS AND RELATED RESEARCH, 2009, 467 (10) :2738-2743
[9]   MELORHEOSTOSIS AND THE SCLEROTOMES - RADIOLOGICAL CORRELATION [J].
MURRAY, RO ;
MCCREDIE, J .
SKELETAL RADIOLOGY, 1979, 4 (02) :57-71
[10]  
Sencen L., Melorheostosis