Congenital Infiltrating Lipomatosis Of The Face Research Articles

Recurrent PIK3CA H1047R-Mutated Congenital Infiltrative Facial Lipomatosis: A Case Report and Review of Literature

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.

Congenital infiltrating lipomatosis of the face

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.

Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia

ObjectiveTo investigate the clinical, imaging and pathological features of congenital infiltrating lipomatosis of the face (CILF) and to discuss whether it is a subtype of hemifacial hyperplasia (HH). MethodsSixteen patients diagnosed with CILF were included in this study. All patients had undergone panoramic radiography and spiral CT examinations. Thirteen patients received biopsy, surgery treatment and pathological examination. The clinical documentation and imaging data were retrospectively reviewed. ResultsThe cheeks (14/16), parotid glands (12/16), tongues (9/16), masticatory muscles (8/16) and the lips (7/16) were the most frequently affected soft tissue organs. The maxilla (14/16), zygoma (13/16), mandible (13/16) were involved among the maxillofacial bones. Dental malformations included macrodontia (8/16), poor formation of the roots (7/16), accelerated tooth germ development or premature eruption of permanent teeth (7/16) and missing of the permanent teeth (4/16). All malformations were restricted to one side of the face and did not trespass the middle line. Pathologically, CILF was featured by the diffuse infiltration of redundant mature adipose tissue into the tissue of the affected organ. ConclusionCILF is a congenital developmental facial malformation characterized by infiltration of nonencapsulated, mature adipose tissue, resulting in facial soft and hard tissue hypertrophy and dental malformations in hemifacial structures. CILF could be considered as a subtype of HH.

Congenital infiltrating lipomatosis of the face

Congenital unilateral facial enlargement can be attributed to a host of clinical conditions ranging from lipomatosis, lymphangioma, and vascular malformations to congenital overgrowth syndromes. Congenital infiltrating lipomatosis of the face (CILF) is one among them and is considered as a variant of benign lipomatosis. The exact etiology and pathogenesis are not known. It is characterized by proliferation and infiltration of adipocytes into adjacent muscles and soft tissues along with hypertrophy of underlying bones. Radiological imaging plays a central role in diagnosis as it enables accurate identification of CILF. Magnetic resonance imaging demonstrates the fatty nature of the disease, and computed tomography demonstrates the osseous abnormalities. In this case report, we discuss the case of an 8-year-old female child who presented with facial hemihypertrophy and how the rare diagnosis of CILF was clinched at imaging. The utility of radiological imaging in differentiation of CILF from its close differentials is also discussed.

Congenital infiltrating lipomatosis of the face with enlargement of the ipsilateral cerebellar hemisphere

Congenital infiltrating lipomatosis of the face (CILF) is a rare disorder in which overgrowth of fatty tissue with infiltration of underlying structures leads to craniofacial deformities and asymmetry. Imaging plays an important role in the diagnosis, surgical planning and evaluation of underlying structures. To our knowledge, our case is the first to describe CILF associated with isolated enlargement of a cerebellar hemisphere in the absence of an enlarged ipsilateral cerebral hemisphere (hemimegalencephaly).

Congenital infiltrating lipomatosis of the face

Congenital Infiltrating lipomatosis of the face is a rare entity, characterized by diffuse infiltration of local tissues of face by mature non-encapsulated adipose tissue and skeletal hypertrophy resulting unilateral facial deformity. Its etiology is unknown and presents at birth or in early childhood. Infiltrating lipomatosis common in the extremities and the trunk and is rarely affects the face and neck Due to infiltrating nature, complete surgical excision is impossible. Herein we report a case of Congenital Infiltrating lipomatosis of the face in a 28 year old male patient. He presented with recurrent right side facial swelling since six years of age and had undergone surgical excisions several occasions. Diagnosis was confirmed by typical imaging findings. Journal of the Postgraduate Institute of Medicine 2015; 2:E16:1-4

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Case Study: Hemimegalencephaly (HME) is a rare malformation of cortical development characterized by enlargement of one cerebral hemisphere associated with focal or diffuse neuronal heterotopia. Congenital infiltrating lipomatosis of the face (CILF) is defined as progressive hemifacial soft-tissue and skeletal overgrowth present from birth. The combination of HME and CILF (HME–CILF) has been rarely reported as a distinct clinical entity of unknown pathogenesis.

Syndromic lipomatosis of the head and neck: a review of the literature.

Patients with syndromic causes of lipomatosis of the head and neck, although rare, often present late in the course of the disease in a myriad of ways, including concomitant airway obstruction, severe functional limitations, and/or significant cosmetic defects. The goal of this report was to review the literature and present a concise overview of the major syndromes causing lipomatosis of the head and neck. A literature search was performed to gather information on syndromic lipomatosis of the head and neck region. PubMed was searched for the following conditions: Familial multiple lipomatosis (FML), multiple symmetrical lipomatosis (MSL), congenital infiltrating lipomatosis of the face (CIL-F), and Nasopalpebral lipoma-coloboma syndrome (NLCS). Data gathered included results of surgical cases of the head and neck region. A total of 48 reports comprising 172 cases of syndromic lipomatosis of the head and neck region were deemed eligible for review. Eighty-five percent of patients were male with an average age of 35 years. Seventy-four percent of cases appeared in the neck region, whereas 23 % presented in the face and scalp. 89 % of cases were treated with surgical excision, with 11 % of cases treated with liposuction. The most common complications were hematoma and seroma in MSL, recurrence in FML, neuropraxia in CIL-F, and mild telecanthus in NLCS. Syndromic causes of lipomatosis are generally benign in nature but difficult to control long term. Because these conditions include frequent recurrence and subsequent difficulty in clearing the disease, the authors advocate early and aggressive surgical excision of syndromic lipomatosis. This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

CT findings in congenital infiltrating lipomatosis of the face: a case report and literature review

Congenital infiltrating lipomatosis of the face (CIL-F) is a benign, congenital disorder of the adipose tissue that results in facial asymmetry and particularly presents during childhood. Only a few studies in the literature have reported hypertrophy of the coronoid process, temporomandibular process, and zygomatic bone causing ankylosis and/or trismus. This report describes a rare case of CIL-F presenting with temporomandibular joint findings, together with a literature review.

Congenital Infiltrating Lipomatosis of the Face: Recognition and Pathogenesis

Congenital infiltrating lipomatosis of the face (CILF) is a well-defined but underrecognized entity. It occurs as an isolated condition or associated with hemimegalencephaly (HME) and neurocutaneous syndromes (particularly epidermal nevus syndromes), sometimes as part of “total unilateral hypertrophy.” Most reports of CILF from the past 20 years attribute the first description to Slavin et al in 1983[1]; however, this entity has been described for more than a century under descriptive terms of morphological appearance. It was first described by Beck in 1836 in a case of hemihypertrophy.[2] The second report, by Friedreich, involved only half of the face.[3] Another early report was also associated with hemicorporal hypertrophy, probably Proteus syndrome.[4] Slavin et al[1] introduced the term congenital infiltrating lipomatosis of the face, which is appropriate because it more specifically implies the nature of the lesion and has facilitated its recognition. However, “congenital hemifacial lipomatosis” would be more accurate to denote its marked asymmetry. Mild, moderate, and severe (sometimes massive) cases of CILF can be distinguished. Of the three cases reported by Slavin et al,[1] two were severe and one was mild. The pathologic examination of the lipomatosis of all three cases demonstrated nonencapsulated mature lipocytes with the following criteria: (1) infiltration of adjacent muscle and soft tissue; (2) absence of malignancy; (3) absence of lipoblasts; (4) presence of fibrous elements; (5) increased vessels with unifocally, thickened muscular walls; and (6) increase of nerve bundles with variable size. The lesion was congenital and recurrent after excision in all three patients. Their cases were isolated, and no neurologic or other systemic involvement was referred. Reports of CILF and HME without a concomitant neurocutaneous disorder are rare.

Tooth abnormalities in congenital infiltrating lipomatosis of the face

The aim of this study was to present a literature review and case series report of tooth abnormalities in congenital infiltrating lipomatosis of the face (CIL-F). Four typical cases of CIL-F are presented. Tooth abnormalities in CIL-F documented in the English literature are also reviewed. The clinical and radiological features of tooth abnormalities are summarized. In total, 21 cases with tooth abnormalities in CIL-F were retrieved for analysis. Accelerated tooth formation and eruption (17 cases), macrodontia (9 cases), and root hypoplasia (8 cases) were observed in CIL-F. Tooth abnormalities including accelerated tooth formation or eruption, macrodontia, and root hypoplasia are common in CIL-F.

Hemimegalencephaly Associated with Congenital Infiltrating Lipomatosis of the Face: A Case Report

Hemimegalencephaly (HME) is a rare congenital malformation of the brain, grossly characterized by enlargement and overdevelopment of one cerebral hemisphere. We describe a 16-month-old patient with facial asymmetry caused by congenital infiltrating lipomatosis of the face (CILF) associated with ipsilateral HME. Although HME has been described as part of different syndromic diseases, the association of HME with CILF has been rarely reported. Our case and literature review suggest that when the diagnosis of CILF is suspected or established, the possible presence of associated HME has to be considered and a magnetic resonance imaging (MRI) must be performed even in absence of neurological features, not always present in early stages. MRI also demonstrates the involvement of intracranial structures outside the affected cerebral hemisphere, such as brain stem, cerebellum, cranial nerves, and blood vessels. In our patient, computed tomography of the brain provided detailed information on osseous hypertrophy and skull-base foramina enlargement.

Congenital infiltrating lipomatosis of the face with associated involvement of the TMJ structures. Case report and review of the literature

We report a case of congenital infiltrating lipomatosis of the face (CILF) with right TMJ ankylosis causing asymmetry and reduced mouth opening. The management involved soft tissue debulking combined with a right TMJ arthroplasty and is explained in detail. A review of the relevant literature revealed the rarity of this condition. The diagnosis of CILF remains challenging. The currently accepted treatment strategy is less aggressive as facial asymmetry tends to recur. Infiltration of the facial structures from adipose tissue requires several surgical procedures in most cases. Bony hypertrophy on the affected side has been a common finding in reported cases. There have been no previous reports of TMJ ankylosis associated with this condition. CILF is a benign condition with a good long term prognosis. After 2years of follow up our patient, has maintained full function despite facial asymmetry.

Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature

Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lipomatous lesion with diffuse fatty infiltration of tissues and hyperplasia of underlying bone. We report clinical and CT findings in an unusual case of CIL-F presenting with progressive hemifacial asymmetry, manifesting as severely restricted mouth opening owing to exophytic temporomandibular joint ankylosis. The role of imaging in diagnosis is presented with a review of the literature. Differential diagnosis of CIL-F and its exclusion as a cause of hemifacial hyperplasia are also discussed.

Congenital infiltrating lipomatosis of the face: Report of three cases and review of the literature

Three new cases of hemifacial hypertrophy caused by congenital infiltrating lipomatosis of the face are reported. The literature on infiltrating lipomatosis of the face is reviewed with an emphasis on accompanying anomalies and treatment strategies. In this study, the clinical features, radiographic findings, histopathology, and postoperative results were analyzed in three patients with facial infiltrating lipomatosis. The condition was diagnosed in infancy (one male subject, two female subjects) and characterized by enlargement of the cheek. Most patients had early eruption of ipsilateral deciduous and permanent teeth. Computed tomography and magnetic resonance imaging showed an infiltrated soft-tissue mass of fatty density and skeletal overgrowth. Multiple resections were performed on two patients. Described first by Slavin and colleagues in 1989, Facial infiltrating lipomatosis is a rare congenital disorder in which mature lipocytes invade adjacent tissue. The phenotypic features include soft-tissue and skeletal hypertrophy, premature dental eruption, and regional macrodontia. Due to its diffuse infiltration and involvement of important facial structures, complete surgical excision is often impossible. The aetiology, natural history, optimal management, and relationship to other disorders of fatty overgrowth are unclear. Because surgical removal of the mass is usually unsuccessful, specific management of this condition will require insight into its pathogenesis.

Congenital Infiltrating Lipomatosis of the Face with Hemimegalencephaly

Congenital infiltrating lipomatosis of the face (CILF) is a rare disorder, causing unilateral facial asymmetry characterized by enlargement of the cheek or chin. Hemimegalencephaly is a unique malformation characterized by enlargement of a cerebral hemisphere. The association of CILF and hemimegalencephaly has rarely been reported. We present a case of unilateral facial swelling in a 1.5-year-old boy in whom magnetic resonance imaging and computed tomography revealed CILF associated with unilateral megalencephaly.

Angiolipoma of the Upper Lip: Report of a Case

Angiolipoma (AL) is a relatively rare tumor of the head and neck region, although it occurs more commonly in the extremities and the trunk regions. 1 Ali M.H. Zuebi F.E. Angiolipoma of the cheek: A case report. J Oral Maxillofac Surg. 1996; 54: 213 Abstract Full Text PDF PubMed Scopus (16) Google Scholar , 2 Hamakawa H. Hino H. Sumida T. et al. Infiltrating angiolipoma of the cheek: A case report and a review of the literature. J Oral Maxillofac Surg. 2000; 58: 674 Abstract Full Text Full Text PDF PubMed Google Scholar This tumor has been rarely reported in the oral cavity, and to our knowledge, it has only been reported once in the lip. When seen in the oral cavity, it has been noted to be in the lip, cheek, tongue, mandible, and palatal tissues. 1 Ali M.H. Zuebi F.E. Angiolipoma of the cheek: A case report. J Oral Maxillofac Surg. 1996; 54: 213 Abstract Full Text PDF PubMed Scopus (16) Google Scholar , 2 Hamakawa H. Hino H. Sumida T. et al. Infiltrating angiolipoma of the cheek: A case report and a review of the literature. J Oral Maxillofac Surg. 2000; 58: 674 Abstract Full Text Full Text PDF PubMed Google Scholar , 3 DeRosa G. Cozzolino A. Guarino M. et al. Congenital infiltrating lipomatosis of the face: Report of cases and review of the literature. J Oral Maxillofac Surg. 2000; 58: 879 Google Scholar , 4 Brahney C.P. Aria A.A. Koval M.H. et al. Angiolipoma of the tongue: Report of a case and review of the literature. J Oral Surg. 1981; 39: 451 PubMed Google Scholar , 5 Campos G.M. Grandini S.A. Lopes R.A. Angiolipoma of the cheek. Int J Oral Surg. 1980; 9: 486 Abstract Full Text PDF PubMed Scopus (17) Google Scholar ALs are seen intraosseously in the mandible and intramuscularly in the pterygoid fossa. 6 Manganaro A.M. Hammond H.L. Williams T.P. Intraosseous angiolipoma of the mandible: A case report and review of the literature. J Oral Maxillofac Surg. 1994; 52: 767 Abstract Full Text PDF PubMed Scopus (25) Google Scholar , 7 Knox R.D. Pratt M.F. Garen P.D. et al. Intra-muscular hemangioma of the infratemporal fossa. Otolaryngol Head Neck Surg. 1990; 130: 637 Google Scholar Certainly, intraoperatively, these lesions are more vascular appearing, but an AL can only truly be distinguished from a lipoma by its microscopic findings. 2 Hamakawa H. Hino H. Sumida T. et al. Infiltrating angiolipoma of the cheek: A case report and a review of the literature. J Oral Maxillofac Surg. 2000; 58: 674 Abstract Full Text Full Text PDF PubMed Google Scholar

P.031 Strained-deformed mandible condition in partial resection

Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lesion. Presented here is a review of the literature concerning this condition, with the report of a case with clinical signs indistinguishable from those of unilateral facial hyperplasia. Previously unreported clinical and radiographic features of regional bony hypertrophy and macrodontia associated with this case of CIL-F are described and the propostition raised that previously reported cases of unilateral facial hyperplasia may have been due to CIL-F. It is suggested that the clinical findings in this case of facial asymmetry associated with CIL-F, regional macrodontia and regional bony enlargement may constitute a previously undescribed syndrome.

Congenital infiltrating lipomatosis of the face

Congenital lipomatosis of the face is a very rare syndrome defined as a collection of non-encapsulated mature lipocytes infiltrating local tissues: resulting in cranio-facial deformities. Due to the normal psychomotor development of the children, aesthetic appearance often remains the main concern. After a precise description of a case, a complete overview of the literature data was made. New clinicopathologic data concerning bone involvement will be presented and analyzed in the light of embryonic growth.

Congenital infiltrating lipomatosis of the face and neck

Congenital infiltrating lipomatosis is a rare clinicopathologic entity characterized by infiltrating lipomatous tumors which, although of benign nature, have a tendency to recur after surgery. This has a predilection for the extremities and the trunk and is seen as overgrowth of soft tissue and bone. It rarely affects the face and neck. We describe two cases of congenital infiltrating lipomatosis of face and neck depicting the bone and soft tissue changes seen on computed tomography, along with a review of the literature on the subject.