Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation.
BACKGROUND
Melorheostosis is a rare disease that affects fewer than 1:1,000,000 persons worldwide and most typically affects the lower extremities. It is a non-hereditary disease that may be debilitating due to chronic pain, contractures of the soft tissue, and even shortening of the affected limbs. Although it most commonly occurs in the lower extremities, melorheostosis has been reported in various locations throughout the body.


OBJECTIVE
This case report describes a patient who presented to the Emergency Department (ED) with this rare disease in an uncommonly affected bone.


METHODS
The patient was a 21-year-old man who presented to the ED with pain in his left upper extremity that he attributed to playing sports 3 days before presentation. Plain films revealed periosteal hyperostosis typical of melorheostosis in several of his carpals, metacarpals, and phalanges, as well as the humerus and ulna. The patient was discharged with orthopedic follow-up and pain medication.


CONCLUSIONS
Melorheostosis is a rare disease that has characteristic radiographic findings likened to the appearance of melting wax flowing down the side of a candle. In certain cases, the disease can be debilitating and may require chronic pain management and even operative intervention. If this diagnosis is made in the ED, the emergency physician should provide adequate pain management and refer the patient to an orthopedic specialist for a work-up to rule out other sclerosing bone dysplasias.
Murano
Tiffany
T
Department of Emergency Medicine, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, New Jersey 07101-1709, USA.
Egarian
Michele
M
D000328:Adult; D004636:Emergency Service, Hospital; D006801:Humans; D008297:Male; D008557:Melorheostosis / Q000150:complications / Q000000981:diagnostic imaging*; D010146:Pain / Q000188:drug therapy / Q000209:etiology; D011859:Radiography; D012017:Referral and Consultation; D034941:Upper Extremity; D055815:Young Adult