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CC BY-NC-ND 4.0 · Rev Bras Ortop (Sao Paulo)
DOI: 10.1055/s-0041-1736614
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Metachondromatosis: A Confusing Disease

Article in several languages: português | English
Alejandro Blasco 
1   Membro Superior e Unidade Nervosa Periférica, Hospital Universitário Politécnico de La Fé, Valência, Espanha
,
Marta Salom 
2   Ortopedia Pediátrica e Unidade de Trauma, Hospital Universitário Politécnico de La Fé, Valência, Espanha
,
Francisco Giner 
3   Patologia Anatômica, Hospital Universitário Politécnico de La Fé, Valência, Espanha
,
Emilio Baixauli 
1   Membro Superior e Unidade Nervosa Periférica, Hospital Universitário Politécnico de La Fé, Valência, Espanha
,
Francisco Baixauli 
4   Tumores Musculoesqueléticos e Unidade de Infecção Articular, Hospital Universitário Politécnico de La Fé, Valência, Espanha
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Abstract

Metachondromatosis is a rare autosomal dominant genetic disease with incomplete penetrance that involves abnormal function of the PTPN11 gene. Differentiation between chondrogenic tumors is a challenge for orthopedists. We report a case of a 5 year-old girl with metachondromatosis, a disease that shares attributes with osteochondromas and enchondromas. We found multiple osteochondroma-like lesions with the atypical characteristic of guiding its growth toward the neighboring joint (epyphisis) instead of moving away from it. Furthermore, columnar enchondroma-like lesions were clearly visible in the right distal radius, in the proximal femoral cervix and in the iliac crests. The patient reported that some other tumor had disappeared or downsized with time. This case was debated between a multidisciplinary skeletal dysplasia group. The aforementioned clinical and radiographic findings reinforced the hypothetical diagnosis of metachondromatosis. Definitive diagnosis of metachondromatosis requires a combination of clinical, radiographical and histopathological findings. Differential diagnosis between enchondromas, osteochondromas and metachondromatosis is vital due to differences in malignization and natural history. When a patient has multiple enchondromas and osteochondromas with regression of some lesions and atypical radiographical characteristic of the osteochondroma-like lesions pointing toward the epiphysis, metachondromatosis, a rare disease, must be considered. Surgical treatment is reserved for painful lesions Risk of malignization is insignificant and genetic advice must be given due it is an autosomal dominant disease.

Keywords

exostoses, multiple hereditary - osteochondromas - enchondromas - bone neoplasms/pathology - child

Financial Disclosure

No financial support was received for the present study.


* Study developed at La Fe Polytechnic University Hospital, Valencia, Spain.




Publication History

Received: 15 December 2020

Accepted: 08 July 2021

Article published online:
04 November 2021

© 2021. Sociedade Brasileira de Ortopedia e Traumatologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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