Congenital infiltrating lipomatosis of the face (CILF) is a rare disorder characterized by diffuse infiltration of muscle, soft tissues, and underlying bone of the malar region of the face (including tongue, lip, cheek, muscles of mastication, and the parotid gland) by mature lipocytes. Tissues above the inferior orbital rim are spared. The pathogenesis is poorly understood.
CILF typically presents at birth or during the first year as a diffuse soft mass on one cheek. This enlarges proportionately as the child grows. There is no sex predilection.
Facial asymmetry is the hallmark presenting sign. Further findings may include ipsilateral hemimacroglossia and lip hypertrophy and ptosis. Adjacent dentoskeletal manifestations including macrodontia, early eruption of permanent teeth, and restricted mouth opening from temporomandibular joint ankylosis may be seen. Intraoral mucosal neuromas and an ipsilateral increase in facial hair have been reported. A faint capillary malformation may occasionally be seen.
Congenital infiltrating lipomatosis of face
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Synopsis
Codes
ICD10CM:
E78.89 – Other lipoprotein metabolism disorders
SNOMEDCT:
238904008 – Congenital Infiltrating Lipomatosis of Face
E78.89 – Other lipoprotein metabolism disorders
SNOMEDCT:
238904008 – Congenital Infiltrating Lipomatosis of Face
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Last Updated:06/15/2022
Congenital infiltrating lipomatosis of face