Clin Orthop Surg.  2017 Mar;9(1):109-115. 10.4055/cios.2017.9.1.109.

Orthopedic Manifestations of Type I Camurati-Engelmann Disease

Affiliations
  • 1Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea. tjcho@snu.ac.kr
  • 2Department of Traumatology and Orthopedics, Children Traumatology and Orthopedics, Neurosurgery and Children Neurosurgery, ashkent Pediatric Medical Institute, Tashkent, Uzbekistan.
  • 3Department of Orthopedic Surgery, Korea University Anam Hospital, Seoul, Korea.
  • 4Department of Orthopedic Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
  • 5Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
  • 6Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.

Abstract

BACKGROUND
Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED.
METHODS
We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course. They were 4 sporadic patients, and two pairs of mother and son.
RESULTS
We categorized the mode of presentation into three groups. Group I had 4 patients who mainly presented with motor disturbances in young age. They drew medical attention for waddling gait, awkward ambulation or running, difficulty in going upstairs, or a positive Gower's sign at age 4 to 6 years. Subsequent development of limb pain and radiographic abnormality led to the diagnosis of CED at age 6 to 29 years. Group II had 3 patients who mainly presented with limb pain at age 15, 20, and 54 years, respectively. Radiographic evaluation and molecular genetic test led to the diagnosis of CED. The remaining 1 patient (group III) was asymptomatic until age 9 years when bony lesions at the tibiae were found incidentally. For the last 10 years, he intermittently complained of leg pain in the morning or after sports activities, which did not interfere with daily life. All the patients in group I showed a body mass index in the underweight range (< 18.4 kg/m²). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain.
CONCLUSIONS
CED presents with a wide range of severity. Awareness of this rare disease entity may be the key to timely correct diagnosis. This disease entity should be considered in the differential diagnosis of limb pain or motor disturbance in children to avoid unnecessary diagnostic work-up.

Keyword

Camurati-Engelmann syndrome; Transforming growth factor beta 1; Phenotype

MeSH Terms

Adolescent
Adult
Analgesics/therapeutic use
Camurati-Engelmann Syndrome/*complications/*diagnostic imaging/genetics/physiopathology
Child
Child, Preschool
Female
*Gait
Genetic Testing
Humans
Male
Middle Aged
Mobility Limitation
Musculoskeletal Pain/drug therapy/*etiology
Pain Measurement
Retrospective Studies
Severity of Illness Index
Stair Climbing
Transforming Growth Factor beta1/genetics
Young Adult
Analgesics
Transforming Growth Factor beta1

Figure

  • Fig. 1 Photographs and radiographs of a 19-year-old man (patient 2) show slim body habitus (A) and cortical hyperostosis of the long bones of the upper (B, C) and lower (D, E) extremities.

  • Fig. 2 Radiographs of a 10-year-old boy (patient 3) show symmetrical cortical hyperostosis of the long bones (A, B), and scintigraphy shows moderate hot uptake in the diaphyses of femora, tibiae and both forearm bones (C).

  • Fig. 3 Radiographs of a 57-year-old woman (patient 7) show marked deformities of the foot and ankle (A, B), hyperostosis of the skull (C), and anterior dislocation of the radial head (D).


Cited by  1 articles

Regarding Camurati-Engelmann Disease: To the Editor
Melissa Machado Viana, Sabrina Versuti Nunes, Davi Coutinho F. Fernandes Gomes, Marco Antônio Percope de Andrade, Marcos José Burle de Aguiar
Clin Orthop Surg. 2018;10(1):116-117.    doi: 10.4055/cios.2018.10.1.116.


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