Congenital infiltrating lipomatosis of face
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.
E78.89 – Other lipoprotein metabolism disorders
238904008 – Congenital Infiltrating Lipomatosis of Face
- Congenital hemifacial hyperplasia – Some cases have been recognized to be CILF.
- Craniofacial microsomia – underdevelopment of lower half of the face, typically involving the mandible and ear
- Progressive hemifacial atrophy (Parry-Romberg syndrome)
- Lipoblastoma (encapsulated) and lipoblastomatosis (deeper, ill-defined mass) – Typically occur on the extremities of children. Consist of fetal adipose tissue.
- Encephalocraniocutaneous lipomatosis
- Multiple endocrine neoplasia type 2B
- Cowden syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Klippel-Trenaunay-Weber syndrome
- Parotid tumor
- Osseous-fibrous dysplasia
- Proteus syndrome