|Ahead of print publication
Congenital infiltrating lipomatosis of the face
Dhiraj Kumar Jaiswal, Saurabh Maheshwari, Vivek Khandelwal, Uddandam Rajesh
Department of Radiodiagnosis and Imaging, Armed Forces Medical College, Pune, Maharashtra, India
|Date of Submission||13-Sep-2020|
|Date of Decision||18-Oct-2020|
|Date of Acceptance||19-Nov-2020|
|Date of Web Publication||01-Apr-2021|
Assistant Professor, Department of Radiodiagnosis and Imaging, Armed Forces Medical College, Pune, Maharashtra
Source of Support: None, Conflict of Interest: None
Congenital infiltrating lipomatosis of the face (CLIF) is a rare condition that is included in the subgroup of lipomatous tumor-like lesions. We present a rare case of CLIF in a 19-year-old male with clinical, imaging, and histopathological findings along with a review of the relevant literature. Our patient had a gradually progressive swelling on the left half of the face since childhood. Radiograph, computed tomography scan, and magnetic resonance imaging showed heterogeneous ill-defined fat-density lesion involving the left half of the face. Histopathological examination confirmed the diagnosis of CLIF. This diagnosis should be suspected on clinical examination and can be confirmed based on characteristic radiological findings. The patient should be kept under regular observation until the stabilization of bone growth, after which appropriate cosmetic surgery should be performed.
Keywords: Congenital, deformities, hemifacial hyperplasia, lipomatosis
| Introduction|| |
Congenital infiltrating lipomatosis of the face (CLIF) is a rare condition from the gamut of lipomatous tumor-like lesions. It results in craniofacial deformities due to diffuse overgrowth of the subcutaneous fat, muscle, and bone. These patients have normal psychomotor development and their primary concern is esthetics.
There have been only 59 cases described in the literature for this condition until 2018. Clinicians and radiologists need to be aware of this surgically manageable rare condition which may be confused with malignant lesions. We report a case of CLIF with histopathological findings and a review of the literature.
| Case Report|| |
A 19-year-old male presented with gradually progressive swelling on the left half of the face since childhood [Figure 1]. He did not provide any history of trauma, pain, fever, or redness/discoloration of overlying skin. There was also no history of difficulty in chewing or toothache. The patient underwent imaging with a clinical suspicion of vascular malformation.
|Figure 1: Frontal photograph of the patient shows the presence of swelling on the left side of the face with associated facial dysmorphism|
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A radiograph of the skull in posteroanterior projection revealed soft-tissue density radio-opacity overlying the body and ramus of the left hemi-mandible with poorly defined margins. The body and ramus of the left hemi-mandible were hypertrophied. No lysis or sclerosis of the underlying bone was seen.
Contrast-enhanced magnetic resonance imaging (CE MRI) of the face revealed an ill-defined, heterogeneous lesion in the subcutaneous tissues of the left half of the face involving the buccal space, masticator space, parotid space, and the infratemporal fossa causing deformity of the left half of the face and upper lip. The lesion was indenting and causing scalloping of the lateral cortical margin of the body of mandible and maxilla on the left with an elongation of the ipsilateral mandibular ramus. However, there was no abnormal signal seen within the bone marrow. The lesion was heterogeneously hyperintense on T1-weighted imaging and T2-weighted imaging with signal suppression on the STIR sequence [Figure 2]. The lesion showed no significant postcontrast enhancement in the soft tissues or the underlying muscles.
|Figure 2: Magnetic resonance imaging of the face (a) Axial T1-weighted imaging and (b) Axial T2-weighted imaging. An ill-defined, heterogeneous lesion (black arrowheads) is seen involving the left half of the face involving the buccal space, masticator space, parotid space, and infratemporal fossa causing contour bulge and deformity|
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A corroborative noncontrast computed tomography (NCCT) of the face showed the fat density in the lesion (HU −10 to −60) [Figure 3]. The patient underwent biopsy from the swelling which showed mature nonencapsulated adipocytes without cellular atypia. The patient was diagnosed to be a case of CLIF and is on a regular follow-up. Cosmetic surgery is being planned for the patient after 6 months.
|Figure 3: Noncontrast computed tomography of the face (a) Soft-tissue window (b) Bone window. Ill-defined heterogeneous fat density lesion (HU -10 to -60) is seen involving the left half of the face (black arrowheads) causing contour bulge and deformity|
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| Discussion|| |
Slavin et al. first described CLIF in 1983. It is a congenital disease without a genetic predisposition. This rare disorder is a collection of lipocytes that infiltrate surrounding soft tissues. These lipocytes have ill-defined borders. CLIF frequently affects the trunk and limbs. It rarely occurs in the face. It presents either at birth or in early childhood with unilateral facial swelling which gradually progresses until the cessation of bone growth. There is no sex predisposition.
Donati et al. proposed a relationship between this entity and cytomegalovirus infection. Pathologically, CLIF are nonencapsulated fatty tumors with a variable degree of fibrous elements. This is associated with bone hypertrophy. There are no lipoblasts or malignant characteristics.
Imaging plays an essential role in the diagnosis of this condition and helps to differentiate it from other conditions causing hemifacial enlargement. CE MRI and NCCT are the modalities of choice and complement each other. CE MRI helps in tissue characterization and the extent of the lesion. Its multiplanar capabilities allow clear differentiation from surrounding soft tissues, muscles, and bones. A lack of contrast enhancement on MRI excludes the possibility of a malignant etiology. NCCT assists in the assessment of bony remodeling and hyperostosis. Modern thin section scanners allow isometric three-dimensional reconstruction which is invaluable for surgical planning. Panoramic reconstruction of computed tomography (CT) images also allows a thorough evaluation of dental anatomy. Ha et al. reported that in young patients, MRI features alone are enough to confirm the diagnosis without a need for biopsy.
The plain radiograph shows soft-tissue overgrowth with hypertrophied facial bones. Ultrasonography shows adipose tissue but is unable to fully delineate the lesion. Lipomatosis contains up to 75% fat. On CT and MRI, they resemble lipomas, with septae being broader and more nodular. MR imaging is essential to demonstrate the very thin capsule and to differentiate it from surrounding normal fat.
The differential diagnosis includes infections, trauma, vascular malformations, and benign and malignant tumors of soft and hard tissues. The differentiation from lipoblastomatosis and liposarcoma requires pathological evaluation.
Definitive excision and reconstruction are usually delayed till adolescence to minimize the risk of facial nerve injury and to allow the maturation and better matching of contralateral cheek contour. The patient should be counseled about the risk of recurrence and the low likelihood of the restoration of full facial symmetry. Complete surgical excision should be attempted due to the high recurrence rate after inadequate surgery.
| Conclusion|| |
The rare diagnosis of CLIF should be suspected on clinical examination and can be confirmed based on characteristic radiological findings. The patient should be kept under regular observation until the stabilization of bone growth, after which appropriate cosmetic surgery should be performed.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]