Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.
Pediatr Dev Pathol
; 22(3): 258-264, 2019.
Article
en En
| MEDLINE
| ID: mdl-30103666
ABSTRACT
Infantile myofibroma is a rare benign mesenchymal tumor that presents as solitary or multiple lesions (myofibromatosis) in the skin, soft tissue, bone, or internal organs. It most commonly affects the head and neck of infants and young children, but it can also affect adults. Intracranial involvement is reported to be extremely rare, and its clinical picture has been poorly characterized. Recently, it has been demonstrated that germline and somatic mutations in the platelet-derived growth factor receptor beta (PDGFRB) are associated with familial infantile myofibromatosis. We report a case of infantile myofibromatosis with predominant posterior fossa extradural involvement in a 14-year-old adolescent girl with a confirmed mutation in the PDGFRB gene.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias de los Tejidos Blandos
/
Miofibromatosis
/
Receptor beta de Factor de Crecimiento Derivado de Plaquetas
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Dev Pathol
Asunto de la revista:
PATOLOGIA
/
PEDIATRIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Canadá