Supplementary Material for: Late-onset melorheostosis: A case report

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.

蜡油样骨病（Melorheostosis）是一种罕见的良性骨病变，累及骨发育异常与骨质增生。该病具有特征性影像学表现：沿长骨骨干分布的高密度硬化灶，形似滴蜡状。异常骨形成与发育主要表现为患肢疼痛、水肿及感觉异常；重症患者可出现肢体畸形与活动受限。截至目前，全球范围内仅报道约300例蜡油样骨病病例，其临床表型与年龄分布均具有多样性。越南仅报道过1例经影像学检查偶然发现的蜡油样骨病病例。该病病例稀缺，给医学界识别与诊断带来了极大挑战，延误诊断可导致严重挛缩与肢体活动功能受损。本文报道1例82岁晚发型多发蜡油样骨病病例，该患者以水肿为主要临床表现，病变累及胸骨、肋骨及右侧肢体多处骨骼，并针对该老年慢性肢体水肿患者的临床诊疗思路进行阐述。本病例的独特之处在于其病变解剖部位，以及以长达20年的非凹陷性水肿为主要表现。结合典型的滴蜡样影像学特征可快速明确诊断，强调了普通X线片在该病诊断中的核心价值，无需额外使用其他影像学检查手段或侵入性操作。临床诊疗中需排除慢性水肿的其他诱因，如淋巴结病变、恶性肿瘤及寄生虫感染，此环节具有重要临床意义。