Imaging features and differential diagnosis of multiple diaphyseal sclerosis

Abstract

Rationale:Multiple diaphyseal sclerosis (MDS), known as Ribbing disease, is a rare congenital bone disease resulting from autosomal recessive inheritance. The case study involved a 22-year-old female patient who had been diagnosed with chronic sclerosing osteomyelitis due to lack of knowledge about MDS. Previous studies reported rarely on this condition.Patient concerns:A 22-year-old female with MDS was analyzed.Diagnoses:MDS is characterized radiographically by a fusiform widening of the diaphyseal portion of the long bones, which is caused by a thickening of the cortex with obstruction of the medullary cavity. The pathologies are observed utilizing diagnostic imagery and are often difficult to identify.Intervention:The patient was following a suggested regimen of oral celecoxib capsules at 200 mg/day for 6 days.Outcomes:The patient's diagnosis was revised to the rare condition of Ribbing disease by reviewing the clinical history and distinctive radiography images and because the symptoms were alleviated by celecoxib capsule. We also present a review of the literature on the diagnosis and differential diagnosis of MDS based on clinical and imaging features.Lessons:MDS is rare and may often be initially misdiagnosed as another type of sclerosing bone dysplasia, thus, it is important to be aware of the existence of MDS. Once MDS is suspected, differential diagnosis should be performed to exclude other sclerosing bone dysplasias, taking into account clinical history, distinctive radiographic appearance, distribution, and laboratory and histopathologic findings. Laboratory evaluation and pathologic findings are nonspecific but assist in excluding other diagnoses. More evidence is needed to illustrate the effectiveness of medical or surgical treatments for patients with MDS.

Camurati–Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia

“…In this context, it is important to know other differential diagnoses disorders to CED. Only few diseases have both the clinical and radiographic findings of CED; 11 , 21 however, differential diagnosis besides Ribbings’s disease is given as follows craniodiaphyseal dysplasia, Kenny-Caffey syndrome type 2, juvenile Paget disease, Ghosal hematodiaphyseal dysplasia, endosteal hyperostosis, and SOST-related sclerosing bone dysplasias including sclerostosis and van Buchem disease. In addition, mild hypophosphatasia can lead to hyperostosis and bone sclerosis and can lead to a waddling gait.…”

Celecoxib for Management of Refractory Back Pain Secondary to Vertebral Osteomyelitis: A Case Report

“…Selective COX-2 inhibitors have repeatedly shown significant benefit to patients undergoing spinal fusion surgeries as reflected by pain scores and opioid use [9]. Celecoxib's ability to reduce pain extends to other inflammatory and bonerelated conditions, such as multiple diaphyseal sclerosis, hypophosphatasia and chronic recurrent multifocal osteomyelitis [10][11][12]. This demonstrated efficacy of celecoxib in managing inflammatory bone pain suggests that it may be particularly beneficial in the management of pain related to VO.…”