Congenital infiltrating lipomatosis of the face
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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
early eruption of permanent/deciduous teeth
The pathogenesis of congenital infiltrating lipomatosis of the face is unclear. Recent 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:
hemihypertrophy of the ipsilateral brainstem and cerebellum
hypertrophy of facial bones
soft tissue swelling
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 and prognosis
Treatment is usually with surgical excision with a high propensity for recurrence.
History and etymology
This entity was first described by Slavin et al. in 1983 1.
The differential diagnosis for unilateral facial enlargement includes: