Atypical presentation of melorheostosis with soft tissues involvement: a case report

Abstract

Background: Melorheostosis is a skeletal disorder giving rise to a dripping wax appearance. The exact cause is still unclear, and the diagnosis is always challenging due to its wide differential diagnoses. Soft tissue involvement of melorheostosis has been reported in previous literatures but it is a rare phenomenon. Case presentation: A 10-year-old child with melorheostosis presented with hematuria. Ultrasonography (USG) identified a cystic lesion in the right hemipelvis adjacent to the urinary bladder which was initially regarded as an ovarian cyst. Computed tomography (CT) confirmed the cystic lesion as a fusiform right internal iliac artery aneurysm, as well as multiple right retroperitoneal and right lower limb capillary hemangiomas with uterine involvement. Hence, the final diagnosis was atypical melorheostosis with vascular malformations. The patient was managed conservatively with Sirolimus therapy for the vascular anomalies. Conclusion: Albeit the rare involvement of soft tissues, careful search for vascular malformation is recommended in melorheostosis.