Presentation of melorheostosis with pain and swelling of the hand bones: A case report and review of literature

Melorheostosis is a rare disease also known as Leri disease with about ۴۰۰ cases in the world with unknown etiology although relations with mitogen-activated protein kinase ۱ gene and LEM domain-containing protein ۳ gene mutations are described. We presented a case of melorheostosis referred to the rheumatology clinic with pain and swelling in the middle phalanx of the index finger and second metacarpal bone of right hand. X-ray of the hand showed a hyperdense lesions in the hand bones with obliteration of the medulla. Right hand magnetic resonance imaging showed signal loss of bone marrow in the second metacarpal bone and middle phalanx of the index finger along with severe periosteal edema. Bone biopsy confirmed melorheostosis.

کلیدواژه ها:

melorheostosis ، Leri disease ، Tumor ، Malignancy ، mitogen-activated protein kinase