Congenital infiltrating lipomatosis of the face

Last revised by Arlene Campos on 8 May 2024

Congenital infiltrating lipomatosis of the face is a very rare congenital, non-hereditary disease manifesting with prominent unilateral facial overgrowth and deformity.

Facial asymmetry is always noted at birth. Other findings on the affected side include:

  • unilateral skeletal hypertrophy

  • capillary blush in the skin

  • macrodontia

  • early eruption of permanent/deciduous teeth

  • macroglossia

  • mucosal neuromas

The pathogenesis of congenital infiltrating lipomatosis of the face is unclear. Studies proved a somatic mutation in the PIK3CA gene, which is also observed in cancers and overgrowth disorders 2.

Histological findings include:

  • non-encapsulated diffuse infiltration of mature adipose tissue into the adjacent muscles and soft tissue

  • presence of fibrous component

  • presence of nerve bundles in different sizes, and vessels with thickened wall

  • absence of lipoblasts

In rare cases, associated ipsilateral brain malformations have been described 3, including:

  • hypertrophy of facial bones

  • soft tissue swelling

  • dental anomalies

CT can demonstrate the lipomatous nature of the mass, its relationship to adjacent structures and osseous changes. Diffuse fat tissue infiltration (−60 HU to −120 HU) and maxillofacial bone hyperplasia can be seen. Fatty infiltration can be inhomogeneous, with a feathery appearance due to intervening fibrous elements.

MRI is also very specific for identification of fat tissue and provides a better delineation of the extent of infiltration.

Inhomogeneous high signal intensity of the lesion on T1 and T2 weighted images and low signal intensity on fat-suppressed T2 images can be seen.

Treatment is usually with surgical excision with a high propensity for recurrence.

This entity was first described by Slavin et al. in 1983 1.

The differential diagnosis for unilateral facial enlargement includes:

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