Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital disorder, characterised by non-encapsulated overgrowth of mature adipose tissue with a propensity to infiltrate the soft tissues of the face and surrounding anatomical spaces. Although benign, the involvement of multiple soft tissue planes, muscles, and bone make complete or near complete surgical excision both challenging and disfiguring. Whilst this condition may present in the early stages of life, the hypertrophic changes are typically progressive, with more significant manifestations being reported in older age groups. Advancements in radiological testing have allowed for more accurate identification of cases with precise management through planned and staged surgical interventions. To the best of our knowledge, this is the first case in the literature to report orbital involvement of CILF with associated intracranial manifestations, in this case, schizencephaly with grey matter heterotopia.

Congenital infiltrating lipomatosis of the face is a rare aggressive-benign disorder characterized by progressive hemifacial overgrowth and complex, often asymmetrical, facial differences. Recently linked with the PIK3CA-Related Overgrowth Spectrum, it arises from mosaic mutations in the PIK3CA gene. Treatment, largely supportive and tailored to individual clinical presentations, requires a multidisciplinary approach. This article reviews the longitudinal care of a young adult patient from 8 years of age, detailing his journey through combined orthognathic and microvascular reconstructive surgery and the outcomes thereof. In addition, it explores the treatment's implications in the context of the PIK3CA mutation, offering insights into potential prognostic and therapeutic considerations.

A rare disorder called congenital infiltrating lipomatosis of the face is characterized by a diffuse fatty infiltration of the soft tissues of the face. Muscle involvement and related bony hyperplasia may coexist. This particular form of lipomatous tumor is rare and typically appears in childhood. It is congenital in nature. Collections of mature, nonencapsulated lipocytes that infiltrate local tissues and frequently recur following surgery define congenital infiltrating lipomatosis, a unique clinicopathologic condition. The best modalities are, CT scan and MRI since they can determine the extent of the lesions and reveal their fat content. The treatment of this disease is surgical as soon as possible to restrict their infiltrative growth and improve the appearance of the face. We describe a case of massive facial invading lipoma that was investigated using MRI.

Temporomandibular joint ankylosis (TMJA) secondary to congenital infiltrating lipomatosis of the face (CILF) is an exceptionally uncommon condition which is characterized by the involvement of unilateral facial soft tissues and bones. In some cases, the extensive exophytic bony growth in the temporomandibular joint region often extends toward the skull base and lies near adjacent vital structures. Only very few cases of TMJA associated with CILF have been reported in the literature. The authors report a case of a 36-year-old female with right TMJA secondary to CILF. The bony overgrowth in the right temporomandibular joint region was arising from a deformed right mandibular condyle, extending towards the ipsilateral temporal bone, greater wing of the sphenoid, skull base, and approaching the lateral limit of foramen ovale, and foramen spinosum. To prevent any damage to the skull base and adjacent vital structures and to achieve adequate mouth opening, the authors have performed a unique technique of subankylotic osteotomy for the release of TMJA, instead of conventional gap arthroplasty.

Congenital infiltrating lipomatosis of the face (CILF) is a rare congenital disease of the head and neck region. In this study, the cases of 20 patients diagnosed with CILF were reviewed retrospectively to analyse the characteristics of the disease. The symptoms, signs, and clinical progression were investigated. Radiological changes were analysed according to the distribution of the trigeminal nerve. The pathological features of the fatty facial lesions, jaw hyperplasia, and lingual lesions were further identified. All 20 patients demonstrated hemifacial hypertrophy at birth. None had a family history of the disease. Significant radiological features of CILF (prevalence ≥90%) included thickened buccal subcutaneous fat, palatal submucosal fat, and temporal subcutaneous fat, maxillary tuberosity heteroplasia, and fatty infiltration of the masseteric intermuscular space. With regard to the trigeminal nerve, the frontal branch region (CNV1) was rarely affected, while the maxillary (CNV2) and mandibular (CNV3) branch regions showed considerable changes. Pathologically, CILF was observed to be characterized by the infiltration of mature adipose tissue into the adjacent buccal soft tissue, osteal remodelling surrounded by sheets of mature lipocytes and supporting fibrovascular stroma, and lingual hamartoma. In summary, CILF exhibits distinct characteristics that are related to the regions controlled by the maxillary and mandibular branches of the trigeminal nerve, suggesting that CILF may be associated with early neural development.