[Ribbing disease: apropos of a case]. / Enfermedad de Ribbing: a propósito de un caso.

Ribbing's disease is a rare form of sclerosing bone dysplasia characterized by exuberant yet benign endosteal bone, and periosteum formation in the diaphysis of long bones. Diagnosis relies on exclusionary criteria, as the primary clinical manifestations entail progressive pain unresponsive to analgesic therapy, accompanied by serological markers within normal ranges. Pain management constitutes the cornerstone of treatment, with surgery appearing to offer the most efficacious approach, despite the absence of a standardized therapeutic algorithm. The diagnostic and therapeutic delays associated with Ribbing's disease, reaching up to 16 years, exert a profound impact on patients' quality of life. Hence, the purpose of our work is to present a case report of Ribbing's disease and conduct a comprehensive literature review on the subject matter.

La enfermedad de Ribbing es una forma rara de displasia ósea esclerosante caracterizada por una formación exuberante, aunque benigna, de hueso endóstico y periostio en la diáfisis de los huesos largos. El diagnóstico se basa en criterios de exclusión, ya que las manifestaciones clínicas principales implican dolor progresivo que no responde a analgésicos, acompañado de marcadores serológicos normales. El manejo del dolor constituye la piedra angular del tratamiento y la cirugía parece ofrecer el enfoque más efectivo, a pesar de no contar con un algoritmo terapéutico estandarizado. Los retrasos diagnósticos y terapéuticos asociados con la enfermedad de Ribbing, que pueden alcanzar hasta 16 años, impactan profundamente en la calidad de vida de los pacientes. Por lo tanto, el propósito de nuestro trabajo es presentar un reporte de caso de la enfermedad de Ribbing y realizar una revisión bibliográfica exhaustiva sobre el tema.

Surgery Treatment of an Adult Patient with Camurati-Engelmann Disease: A Case Report.

CASE: A 40-year-old Colombian woman presented with a 7-year history of progressive lower-limb pain. Sclerosis of the diaphyseal tibia and femur was observed in her latest x-ray images. A narrowing of the medullary canal is observed in Camurati-Engelmann disease (CED), a rare and progressive diaphyseal dysplasia that was confirmed in this patient by genetic testing. Medical treatment was unsuccessful; thus, surgical treatment consisted of decompression by drilling of the medullary canal was performed, achieving successful pain release. CONCLUSION: Surgical treatment should be considered for patients with CED when the medical treatment is unsuccessful because doing so reduces bone overgrowth, leading to pain relief.

Significant Improvement After Surgery for a Symptomatic Osteoblastoma in a Patient with Camurati-Engelmann Disease: Case Report and Literature Review.

Camurati-Engelmann disease (CED) is a rare, progressive diaphyseal dysplasia characterized as diaphyseal hyperostosis and sclerosis of the long bones. Corticosteroids, bisphosphonates, and losartan have been reported to be effective systemic medications used to reduce CED symptoms. There are no reports of osteoblastoma in patients with CED, and osteoblastoma in the distal radius is rare. We present a patient diagnosed with CED, based on radiological and histological examinations, at 11 years old. At 22 years old, she experienced severe pain in her right forearm and was treated with bisphosphonate, losartan, and prednisolone; however, the pain continued. An expansive and sclerotic lesion at the distal radius was observed on radiography. A follow-up plain radiograph indicated that the lesion was growing. Fluorodeoxyglucose positron emission tomography revealed solitary, intense radiotracer uptake, and a biopsy and surgical resection were performed due to suspected malignancy. Pathologic analysis showed anastomosing bony trabeculae rimmed by osteoblasts observed in a loose fibrovascular stroma. The lesion was diagnosed as an osteoblastoma. Following bone excision and artificial bone grafting, the patient's severe pain almost completely disappeared. At final follow-up, no evidence of osteoblastoma recurrence was noted. To our knowledge, this is the first case report of osteoblastoma arising in a patient with CED. Bone excision and artificial bone grafting may be a treatment option for local symptomatic osteoblastoma in patients with CED.

Total Hip Arthroplasty in a Patient with Camurati-Engelmann Disease: A Case Report.

CASE: We review the case of a 44-year-old man with Camurati-Engelmann disease, who presented with chronic right hip pain that did not improve following intra-articular hip injections. He was functionally debilitated because of the worsening pain. Routine radiographs demonstrated severe right hip osteoarthritis and severe diaphyseal sclerosis of the femur. To address the narrowed medullary cavity, appropriate reaming of the diaphysis and broaching to fill the metaphysis were performed. The patient underwent an uncemented total hip arthroplasty that resulted in an excellent recovery with no complications. CONCLUSION: Uncemented total hip arthroplasty serves as a good option for patients with hip osteoarthritis secondary to Camurati-Engelmann disease. Anticipation of potential operative challenges is the key to avoiding complications and achieving an optimal, durable outcome.

Repeat Intracranial Expansion After Skull Regrowth in Hyperostotic Disease: Technical Note.

OBJECTIVE AND IMPORTANCE: Camurati-Engelmann disease (CED) is a rare, autosomal-dominant genetic disorder resulting in hyperostosis of the long bones and skull. Patients often develop cranial nerve dysfunction and increased intracranial pressure secondary to stenosis of nerve foramina and hyperostosis. Surgical decompression may provide symptomatic relief in select patients; however, a small number of reports document the recurrence of symptoms due to bony regrowth. We present a patient who had been treated previously with bilateral frontal and parietal craniotomy who experienced recurrence of symptoms due to reossification of her cranial bones. This report underscores the progressive nature of CED and its influence on surgical management. Furthermore, we propose a novel surgical approach with multiple craniectomies and titanium mesh cranioplasties that could potentially offer long-term symptomatic relief. CLINICAL PRESENTATION: A 46-year-old female patient with CED who was treated with ventriculoperitoneal shunting, posterior fossa decompression, and multiple craniotomies 2 decades prior presented with signs and symptoms of increased intracranial pressure. Studies of the skull at presentation demonstrated rethickening of cranial bones that resulted in severely decreased intracranial volume. INTERVENTION: A radical craniectomy, requiring 4 separate bone flaps made up of bilateral frontal and parietal bones, was performed. The remaining coronal and sagittal bony struts were drilled to approximately 1 cm thick. Cranioplasties with 4 separate titanium meshes were performed to preserve the natural contour of the patient's skull. CONCLUSIONS: Although surgical decompression could provide some patients with CED symptomatic relief, clinicians should consider managing CED as a chronic condition. To the authors' knowledge, this is one of few case reports documenting the recurrence of symptoms in a patient with CED treated by surgical intervention. Furthermore, we propose that multiple craniectomies with titanium mesh cranioplasties confer more permanent symptomatic control, and, more importantly, lower the risk of recurrence secondary to cranial hyperostosis.

Treatment of Ribbing disease with 5-year follow-up and literature review.

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.

[Intramedullary reaming in Ribbing disease]. / Fresado endomedular en la enfermedad de Ribbing.

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 this 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 stabilise, but there are no data published with long term follow-up after intramedullary reaming.

Fresado endomedular en la enfermedad de Ribbing / Intramedullary reaming in Ribbing disease

La enfermedad de Ribbing es una displasia ósea esclerosante benigna poco frecuente. Se presenta con un incremento de la densidad ósea a nivel diafisario con engrosamiento cortical endo/periostal que predomina en extremidades inferiores. Presentamos el caso de una mujer de 28 años con una lesión de estas características a nivel tibial, que llega a obstruir por completo el canal medular, y con dolor muy intenso no controlable con analgésicos habituales. Está publicado en varios casos cómo el fresado endomedular alivia de forma notable los síntomas. Aplicamos dicho tratamiento detallando los pasos quirúrgicos empleados para evitar una fractura y falsa vía que puede producirse por la dificultad de traspasar el tapón óseo escleroso. La paciente mejoró inmediatamente en el postoperatorio encontrándose asintomática al año de la intervención. En su evolución natural la enfermedad tiende a estabilizarse, no hay datos a largo plazo en los pocos casos publicados con fresado endomedular (AU)

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 this 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 stabilise, but there are no data published with long term follow-up after intramedullary reaming (AU)

Ribbing disease: a case report and literature review.

Ribbing disease (RD) is a rare bone dysplasia characterized by benign endosteal and periosteal new bone formation confined to the diaphysis of the long bones of the lower extremities in young adults. The etiology and optimal treatment for the disease are unknown. It is often initially diagnosed as a low-grade osteomyelitis or a bone-forming neoplasia. It may also be confused with other causes of increased bone density. The onset is usually after puberty and the most common presenting symptom is pain that does not resolve with medical treatment and sometimes is intolerable. We report the case of a 22-year old woman with clinical and radiological manifestations of RD. In spite of different medical treatment modalities, pain did not resolve and the patient consulted multiple physicians. Intramedullary reaming of the tibia was performed to relieve the severe pain. To the authors' knowledge, in this report we present a case of RD for the third time in the orthopaedic literature and also she is the second case in the English literature to undergo a definite surgical treatment modality as intramedullary reaming for the solution of her pain. Owing to the rarity of the disease we aimed to report the complete findings of our encounter with the disease and to emphasize the role of an orthopaedic surgeon in consultation and intervention for the treatment of intolerable pain which is the most important symptom of this disease.

Unusual association between enchondroma and Camurati-Engelmann disease: a case report.

This case report describes an enchondroma of the distal phalanx of the right little finger in a 37-year-old woman with Camurati-Engelmann disease. Curettage of the tumor and artificial bone grafting were performed in May 2004. Surgical treatment resulted in a good clinical outcome with no evidence of recurrence at 5-year follow-up. The genetic relationships between Camurati-Engelmann disease and benign chondroid tumors are discussed.

Aggressive cranial vault decompression for cranial hyperostosis: technical case report of two cases.

OBJECTIVE AND IMPORTANCE: Camurati-Engelmann's disease, also known as progressive diaphysial dysplasia, is a disorder of the bone metabolism. Neurological manifestations of progressive diaphysial dysplasia include cranial nerve dysfunction, generalized weakness, cerebellar herniation, and increased intracranial pressure. In the past, surgical intervention has been of limited and temporary benefit. We present two patients with cranial hyperostosis secondary to Camurati-Engelmann's disease who were treated successfully with a single surgery involving a combination of multiple craniotomies for cranial vault decompression. CLINICAL PRESENTATION: Two patients presented with signs and symptoms of increased intracranial pressure secondary to Camurati-Engelmann's syndrome. Radiological workup revealed marked cranial hyperostosis. INTERVENTION: The patients underwent aggressive cranial vault decompression. Multiple craniotomies were performed, and the inner table was then drilled down until the bone was 1 cm thick. CONCLUSION: Effective surgical options are needed for clinically significant cranial hyperostosis. In an effort to further define operative management in these patients, we describe a single, aggressive surgical procedure that may be used for successful cranial decompression.

Craniometaphyseal dysplasia: a case report and review of medical and surgical management.

Craniometaphyseal dysplasia (CMD) is a genetic syndrome involving cranial and tubular bone anomalies that commonly present at a young age, often with otolaryngologic manifestations. In this paper, we report a rare case of a sporadic form of the disease resulting in an early state of hypocalcemia with secondary hyperparathyroidism. A conductive hearing loss is also documented prior to 12 months of age. The clinical aspects of CMD will be covered along with its pathogenesis. The current concepts surrounding medical and surgical treatments will be reviewed, and the management of our patient will be discussed.

Craniometaphyseal dysplasia: a case report and review of medical and surgical management.

Craniometaphyseal dysplasia (CMD) is a genetic syndrome involving cranial and tubular bone anomalies that commonly present at a young age, often with otolaryngologic manifestations. In this paper, we report a rare case of a sporadic form of the disease resulting in an early state of hypocalcemia with secondary hyperparathyroidism. A conductive hearing loss is also documented prior to 12 months of age. The clinical aspects of CMD will be covered along with its pathogenesis. The current concepts surrounding medical and surgical treatments will be reviewed, and the management of our patient will be discussed.

Vestibular nerve dysfunction and decompression in Engelmann's disease.

Vestibular nerve dysfunction as the major neuro-otological symptom in one of the osteopetrosis group of bone disorders is unusual. We describe a patient with Engelmann's disease who presented in this manner and who benefited from an eighth nerve decompression procedure. Surgical decompression of the internal auditory meatus to relieve vertigo has to our knowledge not been previously reported in this condition.

Temporal bone findings in craniodiaphyseal dysplasia.

To our knowledge, this is the first description of the histopathology of the temporal bone from a case of craniodiaphyseal dysplasia. The air spaces of the mastoid, external auditory canal, and middle ear cavity are reduced by hyperostotic bone. The ossicles are also deformed by the bony overgrowth. Anomalous ossicles with hyperostosis could affect the air conduction. Even though the internal auditory canal is somewhat elongated and narrow, no labyrinthine abnormalities can be attributed to the abnormal bone. Facial nerves run through abnormal courses but the geniculate ganglion cells are not involved. The VIIIth nerve dysfunction in this case could be due to mechanical damage of the nerve fibers and/or impaired vascular supply by the hyperostosis.

Camurati-Engelmann's disease. A case report.

Camurati-Engelmann's syndrome is a rare congenital disease characterised by hyperostosis and sclerosis with a predilection for the long bones of the lower limbs. The authors report a case in an adult with a family history of the disease, and multiple localisations in the diaphyses of the long bones. The site of pain and greatest involvement of the disease was the right tibia and fibula. The affection was treated by drilling and reaming the medullary canal with drills of increasing diameter. This method is easy to carry out, causes little trauma, and has undoubted advantages in greatly reducing the period of bedrest and aiding functional recovery.

Tratamento cirúrgico de uma paciente com displasia crânio diafisária / Surgical treatment of cranio diaphyseal dysplasia

Os autores apresentam os achados clínicos, radiológicos e histopatológicos de uma paciente portadora de displasia crânio-diafisária (leontíase óssea), com 7 anos de evoluçäo. O desenvolvimento exagerado dos ossos faciais e os episódios repetidos de sangramento gengival, justificaram a indicaçäo cirúrgica em caráter excepcional neste caso. Desta forma, observou-se a exeqüibilidade do tratamento cirúrgico, a despeito da grande dificuldade pelo excessivo sangramento. Dois anos de seguimento pós-operatório mostraram a excelente qualidade de vida da paciente, que certamente näo teria sem cirurgia