Figure 1
Radiograph of the left shoulder
There is sclerosis and thickening of the diaphysis of the humerus, sparing the humeral head.
There are no obvious traumatic signs.
Camurati-Engelmann disease
SectionMusculoskeletal system
Case TypeClinical Cases
AuthorsHenrique Donato, Rui Costa, Pedro Belo-Oliveira, Filipe Caseiro-Alves
Connected authors
26 years, male
Clinical History
A 26-year-old male patient presented at the emergency department after trauma to the right wrist, left shoulder and the head after an assault. He also mentioned long-standing limb pain, especially around the knees and ankles. Neurological examination was normal and there were no laboratory abnormalities.
Imaging Findings
There are no signs of recent trauma.
Plain radiographs show thickening of the diaphyses of the long bones (Figs. 1-4), including the distal femur, the tibia and the fibula (Figs. 3 and 4). These findings are bilateral and symmetric, with epiphyseal sparing (Figs. 3 and 4). Similar abnormalities are observed in the left proximal humerus (Fig. 1) and right distal radius and ulna (Fig. 2). There is minor cortical sclerosis in some metacarpal and metatarsal bones. The carpal bones, tarsal bones and phalanges of the hands and feet are normal (Figs. 2 and 4).
Brain CT shows no signs of acute trauma but reveals sclerosis and thickening of the cranial bones (Fig. 5). There is also narrowing of the optic canals (Fig. 5a).
Clinical presentation and radiographic abnormalities may correspond to Camurati-Engelmann disease.
The patient had a confirmed diagnosis of Camurati-Engelmann disease and a sister with the same condition.
Plain radiographs show thickening of the diaphyses of the long bones (Figs. 1-4), including the distal femur, the tibia and the fibula (Figs. 3 and 4). These findings are bilateral and symmetric, with epiphyseal sparing (Figs. 3 and 4). Similar abnormalities are observed in the left proximal humerus (Fig. 1) and right distal radius and ulna (Fig. 2). There is minor cortical sclerosis in some metacarpal and metatarsal bones. The carpal bones, tarsal bones and phalanges of the hands and feet are normal (Figs. 2 and 4).
Brain CT shows no signs of acute trauma but reveals sclerosis and thickening of the cranial bones (Fig. 5). There is also narrowing of the optic canals (Fig. 5a).
Clinical presentation and radiographic abnormalities may correspond to Camurati-Engelmann disease.
The patient had a confirmed diagnosis of Camurati-Engelmann disease and a sister with the same condition.
Discussion
Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare form of sclerosing bone dysplasia, [1, 2] belonging to the group of disturbance in intramembranous bone formation. [3] CED is an autosomal dominant disease with variable penetrance, [1, 2] in most cases related to mutations in the TGFB1 gene. [3, 4] About one person per million is affected. [5]
Phenotypical expression is highly variable and the age of onset is unpredictable. [4, 6] Although usually detected during childhood, [7] CED may have an indolent or quiescent course, [6] with cases of onset up to the sixth decade. [3] Common symptoms are limb pain, waddling gait, easy fatiguability and muscular weakness. [3, 4] If the skull base is involved, there may be symptoms of cranial nerve compression. [3, 5] Systemic manifestations, such as hepatosplenomegaly and bone marrow dysfunction are uncommon. [3]
Laboratory abnormalities are also uncommon. [3]
Radiological signs have a penetrance of 94%, [4] and precede clinical symptoms. [5] Bilateral and symmetric cortical thickening of the diaphyses of long bones is very characteristic. [1, 2] Both the periosteal and the endosteal side are affected, with concomitant broadening of the diaphyses and narrowing of the medullary cavity, suggesting that both osteoclastic and osteoblastic activities are disturbed. [4, 5] There may even be partial obliteration of the medullary cavity. [3] Metaphyses and epiphyses are generally spared because they are formed by endochondral ossification. [7]
CED is a progressive disease, becoming more prominent with age. [5]
It affects the long bones of the lower limbs more frequently than the upper limbs. [2, 3, 5] In some patients there is sclerosis of the skull, mandible, thoracic cage, vertebrae, pelvis, metacarpals and metatarsals. [3, 4, 5] Carpal and tarsal bones, as well as phalanges are usually spared. [3]
Increased osteoblastic activity is detected on scintigraphy before clinical or radiographic evidence of the disease. [3, 4]
Typical clinical presentation of CED is very useful in the differential diagnosis with other sclerosing bone dyspasia. [1] However, its rarity and variable course may complicate the diagnosis, requiring molecular analysis in some cases. [4]
Preferred treatment consists of corticosteroids, using the advantage of their effect of decreasing bone density. [2, 4] They improve both clinical and radiological abnormalities but have long-term side effects. [4, 8] NSAIDs only provide analgesia. [4]
Surgery may be needed for neurological decompression or to reduce medullary stenosis. [4, 8]
Phenotypical expression is highly variable and the age of onset is unpredictable. [4, 6] Although usually detected during childhood, [7] CED may have an indolent or quiescent course, [6] with cases of onset up to the sixth decade. [3] Common symptoms are limb pain, waddling gait, easy fatiguability and muscular weakness. [3, 4] If the skull base is involved, there may be symptoms of cranial nerve compression. [3, 5] Systemic manifestations, such as hepatosplenomegaly and bone marrow dysfunction are uncommon. [3]
Laboratory abnormalities are also uncommon. [3]
Radiological signs have a penetrance of 94%, [4] and precede clinical symptoms. [5] Bilateral and symmetric cortical thickening of the diaphyses of long bones is very characteristic. [1, 2] Both the periosteal and the endosteal side are affected, with concomitant broadening of the diaphyses and narrowing of the medullary cavity, suggesting that both osteoclastic and osteoblastic activities are disturbed. [4, 5] There may even be partial obliteration of the medullary cavity. [3] Metaphyses and epiphyses are generally spared because they are formed by endochondral ossification. [7]
CED is a progressive disease, becoming more prominent with age. [5]
It affects the long bones of the lower limbs more frequently than the upper limbs. [2, 3, 5] In some patients there is sclerosis of the skull, mandible, thoracic cage, vertebrae, pelvis, metacarpals and metatarsals. [3, 4, 5] Carpal and tarsal bones, as well as phalanges are usually spared. [3]
Increased osteoblastic activity is detected on scintigraphy before clinical or radiographic evidence of the disease. [3, 4]
Typical clinical presentation of CED is very useful in the differential diagnosis with other sclerosing bone dyspasia. [1] However, its rarity and variable course may complicate the diagnosis, requiring molecular analysis in some cases. [4]
Preferred treatment consists of corticosteroids, using the advantage of their effect of decreasing bone density. [2, 4] They improve both clinical and radiological abnormalities but have long-term side effects. [4, 8] NSAIDs only provide analgesia. [4]
Surgery may be needed for neurological decompression or to reduce medullary stenosis. [4, 8]
Differential Diagnosis List
Camurati-Engelmann disease
Van Buchem syndrome
Worth disease
Sclerosteosis
Ribbing disease
Erdheim-Chester disease
Osteopetrosis
Hyperphosphatasemia
Fluorosis
Hypervitaminosis A
Final Diagnosis
Camurati-Engelmann disease
References
[1] Ramanan AV, Hall MJ, Baildam EM, Mughal Z (2005) Camurati-Engelmann disease--a case report and literature review. Rheumatology 44:1069-72 (PMID: 15827032)
[2] Manaster BJ, May DA, Disler DG (2007) Musculoskeletal Imaging: The Requisites in Radiology 3rd ed. Philadelphia: Mosby 622-42
[3] Bartuseviciene A, Samuilis A, Skucas J (2009) Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. Skeletal Radiol 38:1037-43 (PMID: 19214502)
[4] Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W (2006) Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet 43:1-11 (PMID: 15894597)
[5] Vanhoenacker FM, Janssens K, Van Hul W, Gershoni-Baruch R, Brik R, De Schepper AM (2003) Camurati-Engelmann disease. Review of radioclinical features. Acta Radiol 44:430-4 (PMID: 12846694)
[6] Naveh Y, Kaftori JK, Alon U, Ben-David J, Berant M (1984) Progressive diaphyseal dysplasia: genetics and clinical and radiologic manifestations. Pediatrics 74:399-405 (PMID: 6472973)
[7] Ihde LL, Forrester DM, Gottsegen CJ, Masih S, Patel DB, Vachon LA, White EA, Matcuk GR Jr (2011) Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. Radiographics 31:1865-82 (PMID: 22084176)
[8] Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR (2004) Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A 129A:235-47 (PMID: 15326622)
Case information
| URL: | https://eurorad.org/case/12992 |
| DOI: | 10.1594/EURORAD/CASE.12992 |
| ISSN: | 1563-4086 |
License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Figure 2
Radiographic study of the right hand
Frontal projection, showing no traumatic signs. There is a slight modelling defect of the metacarpals and minor sclerosis in the fourth metacarpal. There are no abnormalities of the carpal bones or the phalanges.
Oblique projection, showing no traumatic signs. Slight modelling defect of the metacarpals, minor sclerosis in the fourth metacarpal and thickening of the distal radial and ulnar diaphyses. Carpal bones and phalanges are normal.
Figure 3
Radiographic study of the knees
Frontal projection. There is exuberant sclerosis and thickening of the diaphyses of the long bones, sparing the epiphyses. The abnormalities are symmetrical.
Lateral projection of the right knee. There is exuberant sclerosis and thickening of the diaphyses of the long bones, sparing the epiphyses.
Lateral projection of the left knee. There is exuberant sclerosis and thickening of the diaphyses of the long bones, sparing the epiphyses.
Figure 4
Radiographic study of the feet
Frontal projection, showing minimal sclerosis of the second and third right metatarsals and first left metatarsal. There are no other abnormalities.
Oblique projection of the right foot. There is minimal sclerosis of the second and third metatarsals and more evident thickening of the distal diaphyses of the tibia and fibula. Tarsal bones and phalanges are normal.
Oblique projection of the left foot. There is minimal sclerosis of the first metatarsal and more evident thickening of the distal diaphyses of the tibia and fibula. Tarsal bones and phalanges are normal.
Figure 5
Brain CT
The CT examination shows symmetric sclerosis and thickening of the cranial bones, more evident in the temporal, ethmoid, sphenoid and zygomatic bones. There is associated narrowing of the optic canals (arrows).
The CT examination shows symmetric sclerosis and thickening of the cranial bones, more evident in the temporal, ethmoid, sphenoid and zygomatic bones.
Radiograph of the left shoulder
There is sclerosis and thickening of the diaphysis of the humerus, sparing the humeral head.
There are no obvious traumatic signs.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Radiographic study of the right hand
Frontal projection, showing no traumatic signs. There is a slight modelling defect of the metacarpals and minor sclerosis in the fourth metacarpal. There are no abnormalities of the carpal bones or the phalanges.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Oblique projection, showing no traumatic signs. Slight modelling defect of the metacarpals, minor sclerosis in the fourth metacarpal and thickening of the distal radial and ulnar diaphyses. Carpal bones and phalanges are normal.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Radiographic study of the knees
Frontal projection. There is exuberant sclerosis and thickening of the diaphyses of the long bones, sparing the epiphyses. The abnormalities are symmetrical.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Lateral projection of the right knee. There is exuberant sclerosis and thickening of the diaphyses of the long bones, sparing the epiphyses.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Lateral projection of the left knee. There is exuberant sclerosis and thickening of the diaphyses of the long bones, sparing the epiphyses.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Radiographic study of the feet
Frontal projection, showing minimal sclerosis of the second and third right metatarsals and first left metatarsal. There are no other abnormalities.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Oblique projection of the right foot. There is minimal sclerosis of the second and third metatarsals and more evident thickening of the distal diaphyses of the tibia and fibula. Tarsal bones and phalanges are normal.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Oblique projection of the left foot. There is minimal sclerosis of the first metatarsal and more evident thickening of the distal diaphyses of the tibia and fibula. Tarsal bones and phalanges are normal.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Brain CT
The CT examination shows symmetric sclerosis and thickening of the cranial bones, more evident in the temporal, ethmoid, sphenoid and zygomatic bones. There is associated narrowing of the optic canals (arrows).
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
The CT examination shows symmetric sclerosis and thickening of the cranial bones, more evident in the temporal, ethmoid, sphenoid and zygomatic bones.
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal
Medical Imaging Department and Faculty of Medicine, University Hospital of Coimbra, Portugal