ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Congenital infiltrating lipomatosis of face
Print
Other Resources UpToDate PubMed

Congenital infiltrating lipomatosis of face

Print Images (1)
Contributors: Jennifer Yeh PhD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
E78.89 – Other lipoprotein metabolism disorders

SNOMEDCT:
238904008 – Congenital Infiltrating Lipomatosis of Face

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated: 08/14/2018
Copyright © 2019 VisualDx®. All rights reserved.
Congenital infiltrating lipomatosis of face
Print 1 Images
Congenital infiltrating lipomatosis of face : Eyelid ptosis, Unilateral, Macroglossia, Teeth abnormalities
Copyright © 2019 VisualDx®. All rights reserved.