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The schematic diagram of the 4 boundaries of the patient's left cheek enlargement when he was born (A) and when presented to us (B), showing the progress of CILF and photos before surgery (C).
Source publication
Rationale:
Congenital infiltrating lipomatosis of the face (CILF) is a rare disorder characterized by collections of nonencapsulated mature lipocytes that infiltrate surrounding tissues. In this article, we would report a new case of CILF, which may be one of the first few cases reported in China.
Patient concerns:
An 8-year-old boy presented wi...
Contexts in source publication
Context 1
... a hyperplasia of subcutaneous tissue of his left face since birth. At that time, the upper boundary of the left cheek enlargement was his left arcus zygomaticus, the lower boundary was his left mandibula, the inner boundary was the left side of his nose and mouth, and the outer boundary was the vertical line of the outer cor- ner of his left eye (Fig. 1A). He came from a full-term pregnancy of nonconsanguineous parents. The prenatal history was normal, and his mother denied any press or injury during the stage of labor, and there were no asphyxia, pathological jaundice, or other neonatal dis- eases. Developmental milestones were normal. The swelling gradually progressed in size, ...
Context 2
... eases. Developmental milestones were normal. The swelling gradually progressed in size, resulting in an asymmetry of the face, and there were no any diagnosis or treatment. When he presented to us, the 4 boundaries of the mass were almost the same as born, except for the inner boundary, which progressed to the midline of the boy's nose and mouth (Fig. 1B). During the whole course of the disease, the pa- tient denied any discomforts, including fever, pain, hypoesthesia, weakened muscular strength, obnubilation, or unconsciousness. More- over, there was no early eruption of deciduous or permanent teeth on the left ...
Context 3
... past, personal, and family history of the patient were all clear. The physical examination showed an enlargement of the left face, measured approximately 10 Â 7 cm. The midline of the face moved right, whereas the left nasolabial fold was lighter, and the left palpebral fissure was smaller than that of right (Fig. 1C). However, there was nothing special of the left facial mass compared with the right face. The color and texture of the skin were normal, and the pain was nega- tive. The cranial nerves examination also presented no positive results. The sense, muscular strength, and muscular movement of the left face were all as normal as that of ...
Citations
... Furthermore, parents of pediatric patients often request early surgery for aesthetic reasons to prevent their children from experiencing self-esteem issues related to their appearance during their school years. The postoperative recurrence rate in our center was 24.2%, which is lower than the reported data in previous literature, where the highest reported rate reaching 79% [27]. Among all the recurrent cases, 87.5% were children under the age of 14. Padwa suggested that growth hormone may play a role in recurrence, as surgeries performed before the end of adolescence were more likely to experience recurrence [2]. ...
Background
Facial infiltrating lipomatosis (FIL) is a rare condition characterized by congenital facial enlargement. Beyond its impact on physical appearance, FIL can also impair essential facial functions such as swallowing, chewing, vision, and breathing, imposing a substantial physiological and psychological burden. Currently, fewer than 80 cases of FIL have been reported, and the characteristics and management strategies for FIL remain unclear.
Methods
We reviewed the clinical, surgical, and radiological records of 39 FIL patients who were treated at our center. Of these, genetic testing was performed for 21 patients.
Results
Aberrant overgrowth involves subcutaneous fat, bones, muscles, glands, tongue, lips, and teeth. Epidermal nevi could be observed in the dermatomes innervated by the three branches of the trigeminal nerve, with the highest frequency seen in the dermatome of the mandibular branch. Four patients exhibited concurrent hemimegalencephaly (HMEG), with one case presenting HMEG on the opposite side of the FIL. Nineteen patients were confirmed to harbor the PIK3CA mutation. Thirty-three patients underwent surgical procedures, with a post resection recurrence rate of approximately 25%.
Conclusions
A variety of maxillofacial structures may be involved in FIL. PIK3CA mutations are important pathogenic factors. Emerging targeted therapies could present an additional treatment avenue in the future. However, surgery currently remains the predominant treatment choice for FIL. The timing and modality of surgery should be individually customized, taking into account each patient's unique circumstances. Notably, there is a significant possibility of postoperative recurrence during childhood and adolescence, necessitating early strategic planning of disease management.
... CILF presents with the hypertrophy of soft and hard structures, leading to facial asymmetry, and is usually associated with dental growth alterations, bone hypertrophy, macroglossia, and parotid gland proliferation [5]. ...
... In particular, radiological imaging plays a pivotal role in assessing infiltrative lipomatosis. While the role of ultrasound (US) can be limited due to the restricted field of view, computed tomography (CT) and magnetic resonance imaging (MRI) are capable of providing crucial information, such as the precise localization and extent of fatty infiltration and coexistent muscle and skeletal involvement [5]. ...
... US, CT, and MRI can collectively contribute in the comprehensive assessment of CILF [5]. ...
Congenital infiltrating lipomatosis of the face is a rare and benign condition involving a hamartomatous proliferation of mature adipose cells. The final diagnosis derives from a combination of clinical data, histology, and imaging features and affects the treatment decision. This report describes the clinical case of a young patient suffering from facial lipomatosis with particular emphasis on radiological findings detected at CT-scan and magnetic resonance imaging.
... The etiology of CIL-F remains unknown [14]. The prevailing pathogenic hypothesis suggests a somatic mutation occurring in the PIK3CA gene within the affected tissues [15,16]. This mutation is also identified in cancers and affected tissues that are associated with various non-inherited overgrowth disorders. ...
... PIK3, encoded by the PIK3CA gene, plays a pivotal role in governing cell proliferation, adhesion, survival, and motility. External environmental factors, such as radiation, trauma, and degenerative processes leading to fatty transformation, have the potential to initiate and expedite the development of lipomatous changes [15]. CIL-F patients present with facial asymmetry from birth, and this asymmetry evolves as the patient matures [14]. ...
... A diagnosis of CIL-F is clinically confirmed through imaging studies and histopathologically and can be identified by the presence of hemimandibular hypertrophy and accelerated growth of the dentoskeletal structures, the diffuse infiltration and hypertrophy of the masseter and medial pterygoid muscles, as well as the enlargement of the homolateral hemitongue and soft tissues of the cheek [4]. In a review of literature by Li et al. [15], yielding 59 patients, all patients exhibited a facial soft tissue mass characterized by nonpulsatile, noncompressible, and ill-defined features, resulting in facial asymmetry. Adipose tissue infiltration extended into the surrounding tissues, leading to muscle involvement in 24 cases (41%), encompassing muscles such as the masseters, pterygoid plate, and temporalis muscles, as well as affecting the parotid glands in 22 cases (37%). ...
Hemifacial hyperplasia (HFH) is a rare congenital disorder characterized by marked unilateral overgrowth of the facial tissues. A subtype of HFH is congenital infiltrating lipomatosis of the face (CIL-F). This disease is characterized by unilateral diffuse infiltration of mature adipose cells in the facial soft tissue and is associated with skeletal hypertrophy. This work aims to report a case of a CIL-F patient with right facial asymmetry and progressive growth at adolescent age, causing mandibular asymmetry due to signs of concomitant unilateral condylar hyperplasia. At the age of seventeen, a condylectomy was performed to stop the progression of asymmetric mandibular growth. Five years later, the patient developed CIL-F-associated temporomandibular joint ankylosis, manifesting as progressive restricted mouth opening along with temporal facial pain. In this CIL-F patient, a TMJ reconstruction with an alloplastic total joint prosthesis was successfully performed with optimal maximal mouth opening, complete alleviation of temporal facial pain, and stable dental occlusion one year postoperatively. A TMJ reconstruction with a complete alloplastic total joint prosthesis proved to be a predictable, stable, and safe treatment option in a patient with CIL-F-associated TMJ ankylosis who was previously treated with condylectomy due to progressive mandibular asymmetry.
... Although it is not proven to be neoplastic through monoclonality, it occurs due to post-zygomatic activating mutations in the PIK3CA gene, constituting a part of PIK3CA-related overgrowth syndrome. This causes mature lipocytes to invade into the adjacent tissues in the facial region [2,3]. The FGFR3 gene has also been shown to instigate a role in the etiopathogenesis of CILF [4]. ...
... In a review of literature by Li et al., incorporating all cases of CILF reported until 2017, 59 patients (ages ranging from 0 to 53 years old, mean age = 12 years old) were found [3]. All patients presented with facial asymmetry and facial soft tissue mass, and most of them had associated ipsilateral hypertrophy of the underlying bones [3]. ...
... In a review of literature by Li et al., incorporating all cases of CILF reported until 2017, 59 patients (ages ranging from 0 to 53 years old, mean age = 12 years old) were found [3]. All patients presented with facial asymmetry and facial soft tissue mass, and most of them had associated ipsilateral hypertrophy of the underlying bones [3]. In this study sample, the recurrence rate was 79%, with an average of 1.95 operations performed for each recurrent case. ...
Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital, nonhereditary facial overgrowth due to post-zygomatic activating mutations in PIK3CA gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face. This commonly results in early eruption of the teeth, hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Less than 80 cases of CILF have been reported in the literature so far. Treatment modalities include liposuction and surgical excision. However, since the hallmark of CILF is mutation in the PIK3CA gene, PI3K inhibitors may play a therapeutic role in CILF. We report a case of an 8-year-old boy with recurrent CILF of the scalp and nose, with PIK3CA H1047R mutation. We discuss the differential diagnoses, clinical outcomes, and management of this rare entity.
... Mutation of the PIK3CA and FGFR3 gene is identified as the cause. The gradual enlargement of the affected side of the face and the resulting facial asymmetry are crucial features [1][2][3]. ...
Facial infiltrating lipomatosis is a rare lipomatous lesion, first described by Slavin in 1983. It is a benign pseudotumor pathology. It corresponds to a non-encapsulated collection of mature adipocytes infiltrating the local tissue and hyperplasia of underlying bone leading to a craniofacial deformity. Very few cases have been reported in the literature.
We report the case of a 19-year-old female patient, who was consulted for a swelling of the right hemiface progressively evolving since birth. Physical examination revealed facial asymmetry. On palpation, the mass was soft, painless, not compressible, not pulsatile, not fluctuating. In view of the asymptomatic nature and slow progression of the lesion, a lipomatous tumour, namely lipoma, was suggested. CT scan image shows a hyperplastic subcutaneous fat on the right hemiface. On the right jugal and temporal areas, there is a subcutaneous formation of fatty density, poorly limited, with no detectable peripheral capsule. It merges with the adjacent fat. In the bone window, there was a hyperplasia of underlying bone.
Facial lipomatosis infiltration of the face is a benign pseudotumor pathology. As a result, it can be confused with other disorders, in particular, hemifacial hyperplasia. Combination of physical and radiological findings can establish the diagnosis. Surgical treatment is done for cosmetic purposes.
... [1] There have been only 59 cases described in the literature for this condition until 2018. [2] 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. ...
... There are no lipoblasts or malignant characteristics. [2] 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. ...
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.
... Histopathological examination of this case could see abnormal bro-fatty tissue hyperplasia, the adipocytes were invasive, and part of muscles presented fat degeneration, which is also similar to congenital in ltrating lipomatosis (CIL) , a rare congenital disease initiating from infant [16] . Slavin et al. ...
Background
Macrodystrophia lipomatosa is a rare nonhereditary congenital gigantism, characterized by overgrowth of mesenchymal and fibro-adipose tissue, affecting one or more digits of the extremities. Here, we report a rare case of macrodystrophia lipomatosa of the entire right lower limb with extension of hypertrophied fatty tissue into the abdominal wall and breast. Case presentationA 32 years old woman was born with abnormally elongated and thickened right leg, and the condition aggravated gradually. The disease was multiple, including the right leg, right abdominal wall, and the left breast were also involved. The patient mainly complained that she was unable to walk but with the knee flexed. Physical examination revealed that the elongation and thickening was proportional to the left leg, and the involved joints were malformed and dysfunction. X-ray and Computed tomography angiography (CTA) showed the bones and vessels were elongated and thickened, and the joints were hypertrophic and swollen. Amputation, volume reduction and liposuction was performed on the lesions. Histological examination could see abnormal fibro-fatty tissue hyperplasia, the adipocytes were invasive, and part of muscles presented fat degeneration. The lesions showed no recurrence for one year after surgery.Conclusion
After reviewing the literature of the macrodystrophia lipomatosa, we believed that our case was rare because the hypertrophied fatty tissue extended into the abdominal wall and breast, which was different from former studies and had not been documented worldwide. This novel case will further deepens the understanding of this disease, and will be useful for clinicians in diagnosing it.
... Facial infiltrating lipomatosis (FIL) is a distinct and rare clinical entity with less than fifty reported cases [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]. Slavin, et al. in 1983 described the typical histopathological features and named the disease as congenital infiltrating lipomatosis of the face [18,19]. ...
Introduction: Facial infiltrating lipomatosis (FIL) is a rare and underreported clinical entity. Presence since birth and hemifacial swelling and asymmetry is always present along with dentoskeletal hypertrophy. Clinical management varies from conservative liposuction at an early age to aggressive subtotal resection in adulthood.
Case presentation: A 21-year-old female patient, operated 3 times before for unilateral facial swelling presented with massive diffuse swelling on the right side of the face. Con- trast CT showed infiltrating lipomatosis with the complete fatty replacement of ipsilateral parotid gland and masseter muscle. The case was managed in our unit by staged resec- tion of swelling and minor cosmetic corrections.
Conclusion: Management of facial infiltrating lipomatosis in adult patients can be done with staged resection of the lesion and cosmetic corrections for residual deformities but ideal outcome and prevention of recurrence is difficult.
... [30][31][32][33] These changes in bone appear to be associated with periosteal irritation associated with the overlying mass, regional malformation of mesenchyme affecting bone and soft tissues or increased vascularity. 30,33,34 Li et al 35 ...
... The major concern in the treatment of CILF is the high rate of recurrence after surgical excision although the tumor is benign, with a recent study reporting as high as 79% rate of recurrence. 1,8,35 As a result, multiple surgeries are needed for cosmetic reasons, and when necessary, osseous reduction operations of the maxilla and mandible are performed. 21,35,36 Based on the esthetic requirement of the patient, a multidisciplinary approach that involves surgeons, clinicians, dentists, psychologists and geneticists may be ideal. ...
... 1,8,35 As a result, multiple surgeries are needed for cosmetic reasons, and when necessary, osseous reduction operations of the maxilla and mandible are performed. 21,35,36 Based on the esthetic requirement of the patient, a multidisciplinary approach that involves surgeons, clinicians, dentists, psychologists and geneticists may be ideal. 22,29,37 The high rate of recurrence may be the result of incomplete resection, as these fatty lesions are histologically benign, and as such, the value of aggressive extirpation needs to be weighed against the facial nerve damage and the likelihood of the resultant deformity. ...
Congenital infiltrating lipomatosis of the face (CILF) is a rare lipomatous lesion, commonly seen in childhood, and it is characterized by collections of mature, unencapsulated adipose tissues that infiltrate facial soft and hard tissues. The lesion is seen as an overgrowth of bone and soft tissue and is generally present clinically as slow-growing painless masses. In this case report, we described one case of CILF, which is one of the first cases reported in Ghana and Africa as a whole, along with a literature review on the diagnosis and current treatment strategies.
Congenital facial infiltrating lipomatosis (CFIL) is a rare condition that typically affects the trunk and limbs, but can also occur in the face. Managing CFIL is a significant challenge due to its diffuse involvement in important facial structures. This case report aims to describe a rare form of lipomatosis and discuss the clinical and therapeutic aspects of this entity. The patient was a 5-year-old girl who was admitted to our department due to a right paralateronasal swelling that had been present for 5 months. During the physical examination, a swelling of the right nasolabial was observed. A computed tomography scan of the facial bone revealed an extra bony soft tissue mass near the vestibule of the right nostril in contact with the frontal process of the maxillary bone and the anterior wall of the right maxillary sinus. The patient underwent excision under general anesthesia. The histological report indicated congenital focal lipomatosis. There was no recurrence of swelling a year after initial surgery. Facial infiltrating lipomatosis is a rare congenital disorder in which mature lipocytes invade adjacent tissue. Due to its diffuse infiltration and involvement of important facial structures, complete surgical excision is often impossible. Specific management of this condition requires insight into its pathogenesis as surgical removal of the mass is usually unsuccessful.
