Kadhim Muayad, Deardorff Matthew A, Dubbs Holly, Zackai Elaine H, Dormans John P
*Division of Orthopaedic Surgery ‡Department of Genetics, The Children's Hospital of Philadelphia †Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
J Pediatr Orthop. 2015 Mar;35(2):e13-7. doi: 10.1097/BPO.0000000000000384.
Melorheostosis is a progressive hyperostotic bone disease that commonly affects the appendicular skeleton. Melorheostosis has a significant degree of overlap with other hyperostosis conditions including osteopoikilosis and likely represent varying degrees of a clinical spectrum.
This is a report of 2 patients with melorheostosis who presented with different clinical presentations and involvement of different anatomic locations.
One of the patients presented with foot size asymmetry along with intermittent foot pain and limping. This patient also had irregular nonblanching yellow plaque-like lesion on the forehead. The second patient presented with abnormal gait but no pain. Radiographs demonstrated endosteal hyperostosis, which were consistent with a mixed picture of melorheostosis and osteopoikilois. Genetic testing of the LEMD3 gene from a blood sample was negative in both cases.
The diagnosis of melorheostosis can be made based on the clinical and radiographic features and can be challenging to differentiate from other hyperostosis conditions.
Level V.
致密性骨炎是一种进行性骨增生性骨病，通常累及四肢骨骼。致密性骨炎与其他骨增生性疾病（包括骨斑点症）有很大程度的重叠，可能代表不同程度的临床谱系。
本文报告2例致密性骨炎患者，他们表现出不同的临床表现和不同解剖部位的受累情况。
其中1例患者出现足部大小不对称，伴有间歇性足部疼痛和跛行。该患者前额还有不规则的非压之褪色的黄色斑块样病变。第2例患者表现为异常步态但无疼痛。X线片显示骨内膜增生，这与致密性骨炎和骨斑点症的混合表现一致。两例患者血液样本的LEMD3基因检测均为阴性。
致密性骨炎的诊断可基于临床和影像学特征，且与其他骨增生性疾病的鉴别可能具有挑战性。
V级。
