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Introduction: Ribbing diseases is rare and have only been occasionally reported. We here in report a case of Ribbing disease affecting bilateral tibia which was diagnosed based on computed tomography (CT), magnetic resonance imaging (MRI), and histopathological features and managed by intramedullary reaming . Case Report: A 45 - year - old female presented with complaints of pain in the right leg for the past four 4 months duration and the patient had similar complaints of pain in the left leg 3 years back for which she had had taken treatment at an outside hospital where she underwent saucerization of the left tibia as a case of low- grade osteomyelitis . To evaluate the cause of pain X-ray, CT and, MRI were done which were suggestive of Ribbings disease and biopsy was performed which favoured the diagnosis of Ribbings disease. The patient was tried on a course of analgesics , with no symptomatic betterment , after going through the literature, the patient was taken up for the right tibia intramedullary reaming. Post operatively, the patient symptomatically improved and is pain free for the past 4 years. Conclusion : Ribbing disease is an uncommon cause of a common symptom. It is a rare diaphyseal sclerosing dysplasia. With lack of clinical signs of infection and biochemical evidence of metabolic bone disease and positive clinical, radiological and histological features in favour of ribbing disease helped us in arriving at the diagnosis. Intramedullary reaming of the affected bone has been useful in providing symptomatic betterment .

Ribbing disease, or multiple diaphyseal sclerosis, is a rare diaphyseal sclerosis of unknown etiology. Patients with this pathology usually present with asymmetric pain limited to the lower extremities. Though all efforts are made to relieve the progressive pain associated with Ribbing disease, no medical or surgical treatments have been established yet. In this case report, we followed up a Ribbing case with sclerotic bone fenestration for 5 years. The radiological changes and the clinical effects are described, and the different Ribbing treatments are then briefly reviewed.

Sclerosing bone disorders are uncommon diseases and represent a diagnostic challenge. Osteocondensation is a bone alteration, involving both acquired and hereditary conditions. Multiple diaphyseal sclerosis (Ribbing disease) is an inherited condition. It is characterized by excessive proliferation of endosteal and periosteal osseous tissue at the diaphyses of long bones, especially of tibias and femurs. The conventional radiology depicts cortical thickening of diaphyses of long bones while bone scintigraphy shows characteristically an abnormal tracer concentration in the involved diaphyses. The magnetic resonance imaging (MRI) examination confirms the presence of sclerosis and reveals bone marrow edema in the diaphyses of the afflicted bones. Due to the lack of knowledge of the pathophysiology, the treatment is empirical with glucocorticoids or bisphosphonates. Concerning bisphosphonates, the literature reports are conflicting. We report the case of a patient that showed lack of response to intravenous neridronate within 1 year of treatment, both in terms of pain and persistence of bone marrow edema at MRI.

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.

BackgroundRibbing disease, or multiple diaphyseal sclerosis, is a rare benign bone dysplasia.PurposeTo systematically review the literature to determine the clinical and radiological presentation of patients with Ribbing disease as well as the effects of attempted treatments.Material and MethodsWe considered individual patient data of patients diagnosed with Ribbing disease derived from patient reports and patient series. All stages of the review were performed by two reviewers independently. Standard descriptive statistics were used for quantitative analyses and mixed model analyses were used when appropriateResultsThe literature search yielded 420 unique hits of which 23 studies were included, covering a total of 40 patients of whom 29 had bilateral involvement. The mean age at diagnosis was 35 years and the mean time between diagnosis and onset of symptoms, mostly pain, was five years (range = 1–16 years). The tibial diaphysis was the most commonly involved bone in 35 of 36 patients. Non-surgical treatment consisted of non-steroidal anti-inflammatory drugs (NSAIDs), prednisone, and bisphophonates with mixed results. Surgical treatment consisted of intramedullary reaming and fenestration and was very effective to reduce pain.ConclusionThe clinical presentation and imaging findings of patients with Ribbing disease are becoming more apparent. However, there is paucity of evidence on the natural disease progression and effectiveness of treatment modalities.

Ribbing disease is a rare benign sclerosing bone dysplasia. It presents with an increased bone density at the diaphysis with cortical endosteal/periosteal thickening and affects predominantly the lower extremities. We report a case of a 28-year-old woman with a condition in her tibia that occluded the medullary cavity, with severe pain that could not be relieved with anti-inflammatory therapy. Several cases have been published on pain relief after intramedullary reaming. We performed this treatment with the surgical steps to avoid complications such as a fracture or false route that may occur due to the difficulty in piercing the closed medullary cavity. Pain improved immediately after surgery, and the patient is asymptomatic after one year. The natural progression of ribbing disease is to stabilize, but there are no data published with long term follow-up after intramedullary reaming.

Introduction Ribbing disease is a sclerosing bone dysplasia that is rarely symptomatic. This condition is diagnosed by exclusion, and the most effective surgical treatment is intramedullary reaming. Case report A forty eight year-old woman presented with a seven-month history of pain in the lower left extremity. Plain films showed a sclerotic area in the mid tibial shaft. CT scan revealed endosteal and cortical thickening with narrowing of the medullary canal. MRI did not show involvement of the surrounding soft tissues and technetium 99m bone scanning showed high uptake at the level of the lesion. Histological examination of a tibial cortex sample obtained by incisional biopsy revealed an area of new bone formation with non specific changes excluding neoplastic or infectious causes. The patient was diagnosed with Ribbing Disease and treated by intramedullary tibial reaming. The pain subsided immediately. Conclusion Ribbing disease is a rare condition where relevant clinical information combined with imaging and histological evaluation are critical diagnostic tools.

Objective To assess 5-year treatment responses and TGFB1 gene abnormalities in five patients with ribbing disease. Methods PCR analysis and bidirectional sequencing of TGFβ1 exons 1 through 7 were performed in all five patients. Results The five patients, four women and one man with a mean age of 34 years at symptom onset, shared the following features: severe diaphyseal pain predominating in the lower limbs with diaphyseal hyperostosis; increased radionuclide uptake at sites of pain and, in some cases at other cortical sites; asymmetric or asynchronous lesions; long symptom duration (5–18 years) despite a variety of treatments; and a delay of several years (2–15) between symptom onset and the diagnosis. Of our five patients, two had a heterozygous missense mutation in exon 2 of TGFβ1 (c.466C>T, p.Arg156Cys, previously described in Camurati-Engelmann syndrome) and three had commonly found TGFβ1 polymorphisms. Intravenous bisphosphonate therapy was used in all five patients but induced substantial improvements in a single patient. Of the three patients given bolus methylprednisolone therapy, two experienced a lasting response; the exception was one of the two women with a TGFβ1 mutation. Conclusion Considerable heterogeneity in the clinical presentations, genetic abnormalities, and treatment responses contribute to the diagnostic challenges raised by ribbing disease. Detailed genetic studies are needed.

A 69-year-old woman suffered from Ribbing disease, a hereditary X autosomal dominant disease with multiple sclerosing dysplasias. However, it is less known that the genetic mutation can often induce cardiovascular complications. The patient had a hypertensive cardiopathy and had been treated with percutaneous coronary angioplasty and stenting because of a myocardial infarction. She was seen because of dyspnea and we detected an aneurysm of the ascending thoracic aorta. The patient underwent surgical repair. In Ribbing disease an up-regulation of genes interferes with the production, processing, or formation of collagen type II and XI. These genetic effects are thought to be specific for osteoblasts and are responsible for the skeletal pathology. However, the defective synthesis of collagen can also induce cardiovascular complications which may be similar to those described in patients with type III Ehlers-Danlos syndrome, with type IV Marfan syndrome, and with osteogenesis imperfecta. Rheumatologists who treat patients with Ribbing disease should seek the advice of cardiologists for the occurrence of cardiovascular complications.

We report on clinical and radiologic manifestations in a 3-generation Japanese family with Engelmann disease (ED) or progressive diaphyseal dysplasia. A large variation of phenotype was remarkable among 12 affected family members. Of the 12 patients, 7 had full manifestations of ED, such as bilateral, symmetrical diaphyseal sclerosis of long bones with myopathy and limb pain, whereas the other 5 exhibited only segmental (rhizomelic and/or mesomelic) involvement and asymmetric diaphyseal sclerosis without any clinical symptoms. The phenotype of the latter group of patients resembled Ribbing disease (RD). We propose that ED and RD represent phenotypic variation of the same disorder.

ObjectiveThis study describes the clinical presentation and the course of Ribbing disease in six patients and illustrates imaging features on plain radiography, conventional and computed tomography, and 99mTc-methylene diphosphonate bone scans.Materials and methodsBetween 1982 and 1990, six female patients presented with painful bony lesions that were believed to be Ribbing disease. Ten bones were affected: both tibiae in three patients, a unilateral tibia in one, both femora in one, and a unilateral femur in one. Plain radiographs and either conventional or computed tomography were available for all patients and 99mTc-methylene diphosphonate bone scans, for five patients. All patients underwent open biopsy and/or surgical decompression.ResultsThe diagnosis was reached in all patients through a combination of clinical findings (lack of systemic signs of infection or laboratory values suggesting metabolic bone disease), imaging, histologic evaluation, and specimen cultures. Radiographs and tomographic studies showed benign-appearing endosteal and periosteal cortical thickening. Intense uptake of radionuclide tracer was confined to the shaft of all involved bones. All pathologic specimens revealed nonspecific changes that included a slow increase in the mass of cortical and endosteal bone. These specimens also assisted in excluding neoplastic or infectious causes for the new bone formation.ConclusionRibbing disease is a rare disorder that, on imaging studies, may simulate stress fracture, chronic infection, bone-forming neoplasia, or a systemic metabolic or endocrine disorder. Clinical and imaging features may suggest the correct diagnosis.

(1949). Hereditary, Multiple, Diaphyseal Sclerosis. Acta Radiologica: Vol. 31, No. 5-6, pp. 522-536.

The authors report on a family whose female members suffered from repeated pathological fractures of the femur. The pedigree showed the characteristics of a dominant inheritance. The occurrence of the pathologic fracture exclusively in females can be only considered as a casual event. The radiographic examinations performed on every available members of the family showed diaphyseal cortical sclerosis of the long tubular bones. The authors consider that an unusual form of Ribbing disease is prevailing. The femoral localisation of pathological fractures can be explained by weight bearing.