The molecular mechanism of Gorham syndrome: an update

Front Immunol. 2023 May 5:14:1165091. doi: 10.3389/fimmu.2023.1165091. eCollection 2023.

Abstract

Gorham syndrome, also known as "vanishing osteopathy" and "invasive hemangiomatosis," is a rare clinical syndrome whose etiology is unknown and can invade the whole-body skeleton. At present, more than 300 cases have been reported at home and abroad, usually manifesting as spontaneous chronic osteolysis with no periosteal reaction at the lysis site and occult onset, often with fractures, scoliosis, chylothorax, etc. When waiting for medical treatment, the condition is serious, and the prognosis is poor. At present, there is no effective treatment. The main pathological manifestations of Gorham syndrome are the non-neoplastic abnormal proliferation of lymphatic vessels or blood vessels and osteolysis caused by osteoclast proliferation or increased activity. At present, there is no unified conclusion regarding Gorham syndrome's pathogenesis. This paper starts with the two most studied osteolysis methods at present, osteoclast osteolysis and osteolysis caused by vascular and lymphatic proliferation and summarizes the corresponding most possible molecular mechanisms in recent years to provide more ideas for Gorham syndrome treatment.

Keywords: Gorham syndrome; lymphoid proliferation; molecular mechanism; osteolysis treatment; vascular proliferation.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chylothorax* / etiology
  • Humans
  • Osteoclasts
  • Osteolysis* / etiology
  • Osteolysis, Essential* / complications
  • Osteolysis, Essential* / diagnosis
  • Osteolysis, Essential* / drug therapy
  • Syndrome

Grants and funding

This study was supported by the Chongqing Nature Science Foundation Project (CSTB2022NSCQ-MSX0070), the Hospital Training Funding (PYJJ2019-08), the Chongqing Medical Scientific Research Project (Joint Project of Chongqing Health Commission and Science and Technology Bureau) (2021MSXM285), and the program for Youth Innovation in Future of Chongqing Medical University (W0012). Funding bodies were not involved in the design, data collection, analysis, interpretation, or writing of the manuscript.