Lipofibromatosis: report of a rare paediatric soft tissue tumour

Abstract

The clinical, radiological and pathological features of a case of lipofibromatosis, a rare paediatric soft tissue neoplasm, are described. The tumour involved the foot of a male infant and was present at birth. Magnetic resonance imaging showed a lipomatous mass, with splaying of muscles of the sole by lobules of fat. Histopathological examination revealed typical findings of an admixture of mature adipose tissue and fibroblastic elements. The radiological and pathological features helpful in differentiating this entity from other fibro-fatty paediatric soft tissue tumours is discussed, and the relevant literature is briefly reviewed.

Soft Tissue Ankle Mass in a 15-month-old Girl

“…It is described as occurring exclusively in children from infancy to early second decade [7]. MRI features of this lesion include high signal on T1 and T2 imaging that shows loss of signal with fat suppression, indicating that the lesion contains fat, which is consistent with this case [1,2,11,12]. Contrast enhancement on MRI has been described as heterogenous, primarily in the internal septations.…”

Retroclavicular lipofibromatosis: case report and review of the literature

“…Greene et al [12] and Deepti et al [3] reported isolated involvement of hand or foot in children. There can also be other areas affected such as head, neck, thorax, abdomen or back [3,4]. This is the first known incidence of lipofibromatosis located behind the clavicle.…”

“…Lipofibromatosis is often located in distal extremities, although the upper limb is more often affected than the lower one [1][2][3][4][5][10][11][12]. Greene et al [12] and Deepti et al [3] reported isolated involvement of hand or foot in children.…”

“…Before this classification was made, this fibrofatty tumour was interpreted as a type of congenital, infantile or juvenile fibromatosis or as fibrous hamartoma of infancy [4]. Lipofibromatosis is a specific entity and has to be distinguished from lipofibromatosis in cases of progressive macrosyndactyly (nerve territory oriented lipofibromatosis (NTOL)) [3,5,6]. The etiology of lipofibromatosis is unknown, although some theories about the origin of the tumour have been postulated.…”

“…Since 2002, lipofibromatosis has been recognized as a separate tumour entity according to the World Health Organization Classification of Tumours of Soft Tissue and Bone [2,3]. Before this classification was made, this fibrofatty tumour was interpreted as a type of congenital, infantile or juvenile fibromatosis or as fibrous hamartoma of infancy [4].…”