Open AccessA RARE VARIANT OF THE HEREDITARY FORM OF MYOSITIS OSSIFICANS IN CLINICAL PRACTICE OF ONCOLOGIST
Author(s) -
T. P. Kazubskaya,
В. М. Козлова,
Yevgeniy Trofimov,
Svetlana Mikhaylova,
О. А. Щагина,
И. В. Булычева,
Л В Мехеда
Publication year - 2020
Publication title -
voprosy onkologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.108
H-Index - 11
eISSN - 2949-4915
pISSN - 0507-3758
DOI - 10.37469/0507-3758-2020-66-3-302-307
Subject(s) - myositis ossificans , fibrodysplasia ossificans progressiva , heterotopic ossification , medicine , ossification , etiology , dermatology , pathology , surgery
Myositis ossificans is a rare disorder, characterized by heterotopic bone formation in muscles or soft tissues which is often mistaken for neoplasia. The reasons for ossification in these tissues may be different. In most cases there is a previous trauma, but etiology may be inheritable. Heritable myositis ossificans also called Fibrodysplasia Ossificans Progressiva (FOP) is associated with mutations in the ACVR1 gene and congenital abnormalities, of which malformations of the great toes is constant as well as wide femur neck. We report a case of FOP in the 9-year-old girl admitted to the clinic with swelling of the scapula and neck with a supposed diagnosis of mesenchymoma. The identified a rare germline mutation in the ACVR1 gene was the decisive factor in confirming the diagnosis of the initial manifestation of FOP, before features of ossification can be were visible during histological examination. The case is of interest because of the rarity of the pathology and the difficulty of diagnosing the early manifestation of POF before the formation of the morphological picture and the need for a multidisciplinary approach in the management of these patients