Trevor's disease

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Classification according to ICD-10
ICD10 Q74.8 Other specified congenital malformations of extremity (s) Chromosomal abnormality
ICD-10 online (WHO version 2019)
Trevor's disease

Trevor's disease ( dysplasia epiphysealis hemimelica , English Trevor disease or Fairbank's disease ) is a congenital disorder of bone development, which is characterized by a circumscribed overgrowth of the cartilaginous structure with deformation and enlargement of one or more bones in the course of ossification . The disease is named after David Trevor. The first description was provided by Albert Mouchet and J. Bélot in 1926. The name "dysplasia epiphysealis hemimelica" was proposed by Fairbank.

Upper ankle with Trevor's disease in a 9 year old girl

Epidemiology

The disease is rare, the occurrence is stated to be 1 in 1 million, significantly more common in boys than in girls. The inheritance is autosomal dominant.

clinic

M. Trevor usually occurs unilaterally on the lower extremity and leads to malposition and deformation of the joint in the course of growth. Association with enchondromatosis is described. The painless overgrowth is noticeable in early childhood, often on the foot bones, knee or ankle.

Diagnosis

The diagnosis can be made on the X-ray based on the typical localization, the irregular overgrowth and the appearance of several non-interconnected bone nuclei attached to the epiphyses . A diagnosis can be confirmed in the MRI .

Differential diagnosis

Histologically , the changes cannot be differentiated from an osteochondroma , but the latter always occur metaphysically and not epiphyseally.

Bony chippings from previous trauma and synovial chondromatosis due to the age group are to be distinguished.

treatment

A causal treatment does not exist, significant disturbing changes can be surgically removed, but grow back again until the skeleton has matured.

Individual evidence

  1. a b www.whonamedit.com
  2. Orphanet "Dysplasia epiphysealis hemimelica"
  3. ^ A. Oestreich, C. Mitchell, J. Akeson: Both Trevor and Ollier disease limited to one upper extremity. 2002, Skeletal Radiology 31, p. 230
  4. TJ FAIRBANK: dysplasia epiphysialis hemimelica (tarso-ephiphysial aclasis). In: The Journal of bone and joint surgery. British volume. Volume 38-B, Number 1, February 1956, pp. 237-257 , ISSN  0301-620X . PMID 13295331 .

Web links

literature

  • F. Hefti: Children's orthopedics in practice . Springer 1998, ISBN 3-540-61480-X , page 675 f
  • A. Greenspan: Orthopedic Radiology. A practical approach. 3rd edition, Lippincott Williams & Wilkins, 2000, ISBN 0-7817-1589-X , page 878 f