Добавил:

Sekretar kiopkiopkiop18@yandex.ru t.me/Prokururor I Вовсе не секретарь, но почту проверяю Опубликованный материал нарушает ваши авторские права? Сообщите нам.

Вуз:

Ростовский Государственный Медицинский Университет

Предмет:

Медицина общая

Файл:

Книга_31_библиотеки_им_акад_М_И_Перельмана

.pdf

Скачиваний:

Добавлен:

31.08.2026

Размер:

24 Мб

Скачать

☆

<<< < Предыдущая 9 10 11 12 13 14 15 16 17 18 19 2021 / 4521 22 23 24 25 26 27 28 29 30 31 32 33 > Следующая >>>

Osteochondroma andMultiple

https://t.me/medicina_free

Hereditary Exostosis

KrishnaV.Suresh andPaulD.Sponseller

34.1 Definition

Osteochondroma is a benign lesion that is derived from aberrant cartilage, typically appearing as a cartilaginous cap overlying a bony spur in the metaphysis of long bones. Lesions are only rarely found in the spine, making up approximately 3% of all benign spinal tumors (Figs.34.1 and 34.2). Solitary osteochondroma can be secondary to sporadic mutations, fracture involving growth plate, or radiation therapy.

Fig. 34.1 A 14-year-old female with a history of MHE and spinal osteochondroma at C4 lamina, preoperative: (a) Preoperative axial CT view reveals a lesion on left C4 lamina, (b) preoperative axial MRI view, and (c) preoperative sagittal MRI view. Orange arrows indicate the location of the lesion. [Courtesy of Prof. Alpaslan Şenköylü]

Supplementary Information The online version contains supplementary material available at (https://doi.org/10.1007/978- 3- 030- 80356- 8_34).

K. V. Suresh · P. D. Sponseller (*) Department of Orthopaedic Surgery, The Johns Hopkins University Hospital, Baltimore, MD, USA e-mail: kvangip1@jhmi.edu; psponse@jhmi.edu

https://doi.org/10.1007/978-3-030-80356-8_34

201

202

https://t.me/medicina_free

K. V. Suresh and P. D. Sponseller

Fig. 34.2 A 14-year-old female with a history of MHE and spinal osteochondroma at C4 lamina, postoperative: (a) Image of resected spinal osteochondroma. (b) Axial MRI four years after resection does not show recurrence. (c) Sagittal MRI four years after resection does not show recurrence. [Courtesy of Prof. Alpaslan Şenköylü]

Multiple hereditary exostosis (MHE; autosomal dominant inheritance of germline mutations in EXT1, EXT2, or EXT3 tumor suppressor genes), also known as hereditary multiple osteochondromas (HMO), is a disorder characterized by two or more osteochondromas in appendicular or axial skeleton (Fig.34.3). Approximately 9% to 11% of spinal osteochondromas are secondary to MHE (prevalence is approximately 1:50.000).

34.2 Natural History

Osteochondromas grow throughout childhood and cease growth once physes have closed. Patients with spinal osteochondromas develop neurologic symptoms secondary to mass effect and have good outcomes when the lesion is excised appropriately. Prognosis is excellent with disease-specic mortality considered negligible.

34.3 Physical Examination

Spinal osteochondromas may be completely asymptomatic or may present with pain on palpation, a decreased spinal range of motion, or neurologic decits. These symptoms depend on the location of the lesion, which is most commonly in the cervical spine. A thorough neurologic examination should be performed to evaluate for any motor or sensory abnormalities (Video 34.4). A spinal range of motion, as well as any focal tenderness on palpation, should be noted. A thorough examination of all joints and extremities should be performed to evaluate for the presence of palpable lumps or associated angular deformities.

Presenting signs. The majority of spinal osteochondromas are outside the spinal canal, with the incidence of intracanal osteochondroma being approximately 27% among MHE patients. In patients without spinal canal involvement, symptoms are

34 Osteochondroma andMultiple Hereditary Exostosis

https://t.me/medicina_free

203

Fig. 34.3 Upper and lower extremity osteochondromas in an MHE patient: (a) AP X-ray or right- hand demonstrating lesions on distal ulna and radius. (b) AP X-ray of lower extremities demonstrating lesions in bilateral proximal tibias. Valgus deformity of the right tibia can be appreciated. [Courtesy of Prof. Alpaslan Şenköylü]

primarily limited to mechanical pain in the region of the lesion. In patients with canal involvement, sciatica and compressive myelopathy are the most common ndings. Spinal osteochondromas have been previously documented to present as severe cervical myelopathy, involving severe gait disturbances, loss of sensation, and diffuse hyperreexia, though such presentations are rare. Symptomatic presentation is most commonly due to the mass effect of lesions, fractures through lesion, or malignant transformation. Local impingement of nerves, ribs, and tendons can cause signicant pain in active motion and limit the range of motion. In the extremities, a palpable lump is typically present, with most lesions presenting in the distal femur (30%), proximal tibia (20%), or humerus (10%).

34.4 Imaging

Magnetic resonance imaging (MRI) is the imaging of choice in patients with spinal involvement, typically revealing lesions in the posterior elements of the vertebrae, including lamina, transverse processes, and spinous processes. Lesions are typically

204

https://t.me/medicina_free

found in cervical and thoracic vertebrae and particular care should be taken to identify any spinal canal involvement or nerve root impingement (Fig.34.1). On MRI, the appearance of the cartilaginous cap can vary signicantly based on the extent of calcication but is generally less than 2cm. On T2 sequences, the central fatty marrow appears hyperintense, with a hypointense rim of cortical bone. There are no established cost analyses regarding systematic MRI spine screening of asymptomatic MHE patients, although surveillance screening is typically performed once in children who do not require sedation. MRI is indicated in patients with neurologic symptoms (Fig.34.2). Plain radiographs are generally not utilized to evaluate spinal osteochondromas, as lesions may be difcult to identify. Bony spinal protrusions in posterior elements of the spine may be identied. Lesions can appear as sessile or pedunculated lesions and cartilaginous cap can present as rings of calcication. Evidence of bony destruction with developing cortical irregularities or increasing thickness of the cartilaginous cap >3cm after skeletal maturity may indicate malignant transformation.

K. V. Suresh and P. D. Sponseller

34.5 Differential Diagnosis

Both clinical and radiographic differential diagnoses include a wide range of benign and malignant bone tumors including periosteal chondroma, parosteal and periosteal osteosarcoma (Chap. 38), and enchondroma. In favor of osteochondroma is evidence of continuous medullary involvement between the lesion and host bone and absence of signicant periosteal reactions or destructive lytic lesions.

34.6 Treatment Options

For most cases, observation with routine follow-up is sufcient. Operative resection/biopsy (intra and extra-canal) can be considered only when patients have symptoms associated with mass effect or if the lesion is cosmetically unappealing (Video

34.2). En bloc or intralesional resection can be performed, as radical resection is typically avoided in the spine. Due to the potential malignant transformation later in life, all lesions should be monitored carefully, especially in patients with MHE.Ideally, operative intervention should be delayed until after skeletal maturity has been reached.

34.7 Expected Outcomes

The majority of osteochondromas stop growing after skeletal maturity. Patients who undergo operative resection of symptomatic spinal osteochondromas typically experience signicant symptom relief.

34 Osteochondroma andMultiple Hereditary Exostosis

https://t.me/medicina_free

205

34.8 Potential Complications

The risk of malignant transformation to chondrosarcoma is under 1% for solitary osteochondromas and 5% for osteochondromas associated with MHE.The continued growth of lesions after skeletal maturity should raise suspicion for malignancy. There is a chance of recurrence following resection, if osteochondromas are not completely excised. MHE patients are also at higher risk for keloid development from incision sites.

34.9 What Should Patient andFamily Know?

Osteochondromas are benign tumors derived from cartilage. Most cases of osteochondroma do not require active treatment and typically stop growing after the patient reaches their growth potential. Spinal involvement is rare. Screening MRI may be obtained in asymptomatic patients and is indicated in patients with neurologic symptoms.

Further Readings

Roach JW, Klatt JWB, Faulkner ND. Involvement of the spine in patients with multiple hereditary

exostoses. The Journal of Bone and Joint Surgery. American Volume. 2009;91(8):1942–48.

https://doi.org/10.2106/JBJS.H.00762.

Sciubba DM, Macki M, Bydon M, Germscheid NM, Wolinsky J-P, Boriani S, Bettegowda C, Chou

D, Luzzati A, Reynolds JJ, Szövér Z, Zadnik P, Rhines LD, Gokaslan ZL, Fisher CG, Varga

PP. Long-term outcomes in primary spinal osteochondroma: a multicenter study of 27 patients.

Journal of Neurosurgery. Spine. 2015;22(6):582–88. Yakkanti R, Onyekwelu I, Carreon LY, Dimar JR. Solitary osteochondroma of the spine-a case

series: review of solitary osteochondroma with myelopathic symptoms. Global Spine Journal.

2018;8(4):323–39.

Eosinophilic Granuloma (Vertebra Plana)

https://t.me/medicina_free

FedericoCanavese

35.1 Definition

Eosinophilic granuloma (EG) is a benign form of Langerhans cell histiocytosis (LCH). It is usually a solitary lesion (= monostotic disease) that can affect any bone of the human skeleton. Spine involvement may progress to vertebra plana (VP) which is characterized by the almost complete loss of anterior and posterior vertebral body height. Synonyms of VP are pancake or silver dollar or coin-on-edge vertebra [1] (Figs.35.1 and 35.2).

35.2 Natural History

Solitary lesions spontaneously resolve; there are a 100% survival rate and low rates of recurrence for patients with the monostotic disease.

35.3 Physical Examination

The physical examination of the child may be essentially normal as most EGs are incidental ndings.

Supplementary Information The online version contains supplementary material available at (https://doi.org/10.1007/978- 3- 030- 80356- 8_35).

F. Canavese (*) Department of Pediatric Orthopedic Surgery, Lille University Center, Jeanne de Flandre Hospital, Lille, France

Faculty of Medicine Henri Warembourg, Nord-de-France University, Lille, France

https://doi.org/10.1007/978-3-030-80356-8_35

207

208

https://t.me/medicina_free

F. Canavese

Fig. 35.1 Eosinophilic granuloma (T12). Standard radiographs (a and b, left side), CT scan (a and b, right side), and MRI (c, right side)

Fig. 35.2 Eosinophilic granuloma (T11 and T12). Standard radiographs (a and b, left side, black arrow), CT scan (a and b, right side), MRI (c, right side)

EGs of the spine are primarily asymptomatic but can be occasionally painful. Symptoms such as pain, tenderness on palpation, restricted spine motion, and torticollis can be severe and depend on spinal location. Neurologic symptoms and spinal instability are uncommon. The most common location is the thoracic spine followed by the lumbar and the cervical spine.

A thorough exam, including a complete neurologic evaluation, is necessary for patients with known or suspected cranial or spinal involvement (Video 35.4). Laboratory studies are also important, including a basic laboratory panel, inammatory markers, coagulation studies, and urinalysis in order to differentiate EG from infection (Chap. 65) and other causes of lytic bone lesions [1–3]. Laboratory ndings are usually non-specic except for a moderate and inconsistent rise in the erythrocyte sedimentation rate.

35 Eosinophilic Granuloma (Vertebra Plana)

https://t.me/medicina_free

209

35.4 Imaging

Vertebral EG in skeletally immature patients appears as osteolytic on plain radiographs and results in VP with sparing of the posterior elements and disc spaces. Cervical spine EG more often manifests with osteolytic lesions, rather than VP.

Once a lesion has been identied, it is important to rule out the presence of additional lesions; for this purpose, a skeletal survey or bone scintigraphy can be requested even though the skeletal survey should be preferred as some lesions may not be visualized with scintigraphy.

Computed tomography scan is helpful to conrm the diagnosis and to estimate the amount of cortical disruption; magnetic resonance imaging is highly sensitive although nonspecic.

35.5 Differential Diagnosis

Symptomatic EG of the spine is one of the potential causes of back pain in children and adolescents (Chap. 11). It is necessary to rule out multiple lesions and multisystem involvement, and other forms of LCH, which are Letterer-Siwe disease and Hand-Schüller Christian disease. If a simultaneous skull lesion is present, its biopsy is generally easier than the spine and allows faster diagnosis (Video 35.8).

The radiographic differential diagnosis should include plasmacytoma (Chap.

61), multiple myeloma, lymphoma, Ewing’s sarcoma (Chap. 39), and other sarco-

mas (Chap. 38), tuberculosis (Chap. 64), osteomyelitis (Chap. 65), osteochondritis, and osteogenesis imperfecta [1, 3]. In favor of the EG diagnosis are the isolated spinal disease, the lack of constitutional symptoms, and minimal laboratory abnormalities.

35.6 Treatment Options

Brace treatment has been shown to be sufcient to allow remodeling and reconstitution of the vertebral height and shape, and to avoid kyphosis; however, the process of reconstruction can be extremely long. Observation alone or biopsy to conrm the diagnosis of EG has also been recommended as a treatment strategy. Nevertheless, symptomatic patients are good candidates for the percutaneous biopsy for histopathological evaluation. This also facilitates differential diagnosis. Intralesional methylprednisolone injection seems to be an effective and safe treatment method. EG rarely causes spinal instability which needs a surgical stabilization [1–3].

35.7 Expected Outcomes

In children, vertebral EGs resolve spontaneously with time (one year or more). The biopsy itself can help with treatment by triggering the inammatory response.

210

https://t.me/medicina_free

F. Canavese

35.8 Potential Complications

Spinal instability and neurological compromise are extremely rare.

35.9 What Should Patient andFamily Know?

LCH is a spectrum of diseases ranging from simple, solitary lesions of bone to leukemia-like disorders. EG is the most common expression of LCH; it is a benign lesion and usually solitary.