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Orthopedic Manifestations of Type I Camurati-Engelmann Disease

Alisher J. YuldashevDepartment of Traumatology and Orthopedics, Children Traumatology and Orthopedics, Neurosurgery and Children Neurosurgery, ashkent Pediatric Medical Institute, Tashkent, UzbekistanChang Ho ShinDivision of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, KoreaYong‐Sung KimDivision of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, KoreaWoo Young JangDepartment of Orthopedic Surgery, Korea University Anam Hospital, Seoul, KoreaMoon Seok ParkDepartment of Orthopedic Surgery, Seoul National University Bundang Hospital, Seongnam, KoreaJong‐Hee ChaeDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul, KoreaWon Joon YooDivision of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, KoreaIn Ho ChoiDivision of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, KoreaOk Hwa KimTae‐Joon ChoDivision of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea

Clinics in Orthopedic Surgeryjournal2017en

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Annotatsiya

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: ). 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.

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Mavzular

Dermatological and Skeletal Disorders Skin and Cellular Biology Research Genetic and rare skin diseases.

Identifikatorlar

DOI: 10.4055/cios.2017.9.1.109

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