Metachondromatosis: A Confusing Disease.

Fecha de publicación: 01/07/2024 Fecha Ahead of Print: 04/11/2021

Autores de IIS La Fe

• Alejandro Manuel Blasco González

  Autor

• Marta Salom Taverner

  Autor

• Francisco Giner Segura

  Autor

• Emilio José Baixauli Perelló

  Autor

• 

  Francisco Baixauli García

  Autor

Grupos

• Cirugía digestiva y Cuidados perioperatorios

  

  Leader

  Matteo Frasson

• Cirugía Ortopédica y Traumatología

  

  Leader

  Francisco Baixauli García

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.

The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit ( https://creativecommons.org/licenses/by/4.0/ ).

Keywords

• bone neoplasms/pathology; child; enchondromas; exostoses, multiple hereditary; osteochondromas