Congenital Infiltrating Lipomatosis of Face-Induced Temporomandibular Joint Ankylosis.

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.

Clinical, imaging, and pathological characteristics of congenital infiltrating lipomatosis of the face.

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.

Upper Eyelid and Orbital Involvement in Congenital Infiltrating Lipomatosis.

Congenital infiltrating lipomatosis of the face is a rare entity that has not been reported in the ophthalmic literature. The authors describe two patients affected by this condition. Diagnosis and management of congenital infiltrating lipomatosis of the face involving the eye adnexa is challenging and the psychological impact on such patients must be considered. [J Pediatr Ophthalmol Strabismus. 2022;59(3):e46-e49.].

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

OBJECTIVE: To 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). METHODS: Sixteen 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. RESULTS: The 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. CONCLUSION: CILF 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: Case Report and Literature Review.

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 with a hyperplasia of subcutaneous tissue of his left face, which had been gradually progressing since birth, resulting in a marked facial asymmetry. Then he underwent an operation of resection of the subcutaneous mass, and the postoperative pathological analysis reported a mature adipose tissue. DIAGNOSES AND OUTCOMES: The diagnosis of CILF was finally made according to a comprehensive consideration of the patient's situation. We then searched different databases for studies that had investigated CILF, reviewed those literatures, and gave our summaries for such a rare disease. LESSONS: Congenital infiltrating lipomatosis of the face is an extremely rare disease. There is so much unknown about it, and the gradual progress and recurrence make it even harder to cure. Besides, the psychological impact on such patients must be considered. Thus, a proper collection and analysis of the reports of such a disease are very important.

Congenital Infiltrating Lipomatosis of the Face: Case Report With Presentation of a New Multistep Surgical Approach.

PURPOSE: This report describes the first case of congenital infiltrating lipomatosis of the face (CIL-F) that was successfully managed with 2-jaw orthognathic surgery. MATERIALS AND METHODS: The patient was followed from 4 to 18 years of age. The multistep approach used consisted of a facelift-type procedure at 12 years to improve the soft tissue profile. At 13 years, the transverse maxillary deficiency was treated with transpalatal distraction. At 14 years, the patient underwent bimaxillary orthognathic surgery with a genioplasty. RESULTS: The patient's satisfaction level was very high and remained constant during the 4-year follow up. Extraoral clinical examination showed nearly complete harmonization at the soft and hard tissue levels. There was no recurrence of hypertrophy of the bones or facial soft tissues during the 4-year follow-up. CONCLUSION: The results of this study indicate that a surgical approach for CIL-F at the soft and bony levels is possible if indicated. Orthognathic surgery can be performed and good esthetic and functional results can be achieved. To minimize the risk of recurrence, it is important to perform the treatment after the onset of puberty. This harmonization at the osseous level can greatly benefit the psychological well-being of the patient.

Lipomatosis congénita infiltrante de la cara: reporte de un caso y revisión de la literatura / Congenital infiltrating lipomatosis of the face: case reporte and literature review

La lipomatosis congénita infiltrante de la cara (CLIF) es una enfermedad de origen congénito de baja prevalencia. Sus características clínicas son bien definidas. Éstas generan asimetrías faciales evidentes en los individuos que las padecen, las que pueden observarse clínicamente así como también en radiografías y estudios histopatológicos. El diagnóstico de lipomatosis se hace al nacimiento o a edades muy tempranas y su tratamiento también comienza cuando los pacientes son muy pequeños. Es de gran importancia el trabajo en equipo con cirujanos plásticos, cirujanos maxilofaciales, ortodoncistas, cirujanos dentistas y sicólogos. Este trabajo presenta el caso clínico de una niña chilena con diagnóstico de lipomatosis congénita infiltrante de la cara y el tratamiento que se le ha realizado hasta la fecha.

Congenital infiltrating lipomatosis of the face (CLIF) is a present at birth disease of low prevalence. Its clinical characteristics are well defined. They generate evident facial asymmetries in individuals who suffer from them which can be seen clinically as well as in X-rays or histopathological studies. Diagnosis of lipomatosis is made at birth or at very early stages and its treatment also starts when the patients are very young. It is of great importance the teamwork with plastic surgeons, maxillofacial surgeons, orthodontists, dental surgeons and psychologists. This paper shows the case of a Chilean girl with diagnosis of congenital infiltrating lipomatosis of the face and the treatment that she has received up to date.

Regional early development and eruption of permanent teeth: case report.

BACKGROUND: Early development and eruption of permanent teeth are rarely reported in scientific literature. Early eruption of permanent teeth has been reported to occur due to local factors such as trauma or dental abscesses in primary teeth, and in systemic conditions. Congenital diffuse infiltrating facial lipomatosis (CDIFL) is a rare condition that belongs to a group of lipomatosis tumours. In this disorder, the mature adipocytes invade adjacent soft and hard tissues in the facial region. Accelerated tooth eruption is one of the dental anomalies associated with CDIFL. CASE REPORT: A 3-year-old boy presented with a swelling of the lower lip localised early development and eruption of permanent teeth and dental caries involving many primary teeth. TREATMENT: The planned treatment included biopsy of the swollen lower lip to confirm the diagnosis, surgical reduction and reconstruction of lip aesthetics. The management of the carious primary teeth included preventative and comprehensive dental care and extractions. These procedures were completed under general anaesthesia due to the child's young age and poor cooperation. The lip biopsy showed features of CDIFL such as the presence of infiltrating adipose tissue, prominent number of nerve bundles and thickened vessels. FOLLOW-UP: The high recurrence rate of CDIFL mandates long-term monitoring during the facial growth period of the child. Follow-up care by the paediatric dentist and maxillofacial surgeon has been required to manage all aspects of this congenital malformation. CONCLUSION: This rare disorder has many implications affecting child's facial aesthetics, psychological well being, developing occlusion and risk of dental caries. A multi-disciplinary approach is needed for management of this condition.

Immune status of patients with inherited bone marrow failure syndromes.

Immune function abnormalities have been reported in patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and, rarely, in Shwachman-Diamond syndrome (SDS), and Diamond-Blackfan anemia (DBA), but large systematic studies are lacking. We assessed immunological parameters in 118 patients with these syndromes and 202 unaffected relatives. We compared the results in patients with reference values, and with values in relatives after adjusting for age, sex, corticosteroid treatment, and severe bone marrow failure (BMF). Adult patients (≥18 years) with FA had significantly lower immunoglobulins (IgG, IgA and IgM), total lymphocytes, and CD4 T cells than reference values or adult relatives (P < 0.001); children with FA had normal values. Both children and adults with FA had lower B- and NK cells (P < 0.01) than relatives or reference values. Patients with DC had essentially normal immunoglobulins but lower total lymphocytes than reference values or relatives, and lower T-, B-, and NK-cells; these changes were more marked in children than adults (P < 0.01). Most patients with DBA and SDS had normal immunoglobulins and lymphocytes. Lymphoproliferative responses, serum cytokine levels, including tumor necrosis factor-α and interferon-γ, and cytokine levels in supernatants from phytohemagglutinin-stimulated cultures were similar across patient groups and relatives. Only patients with severe BMF, particularly those with FA and DC, had higher serum G-CSF and Flt3-ligand and lower RANTES levels compared with all other groups or relatives (P < 0.05). Overall, immune function abnormalities were seen mainly in adult patients with FA, which likely reflects their disease-related progression, and in children with DC, which may be a feature of early-onset severe disease phenotype.

Congenital infiltrating lipomatosis of face: case report and review of literature.

Hemifacial hyperplasia is a rare condition causing unilateral enlargement of all tissues. We report a case of progressive facial asymmetry caused by congenital infiltrating lipomatosis of the face in a 6-year-old boy. The approach to diagnosis in our case is discussed along with a review of cases reported in the literature.

Macrodystrophia lipomatosa of a fifth digit: a case report.

UNLABELLED: Macrodystrophia lipomatosa (MDL) is a rare, nonhereditary, congenital malformation that primarily affects the proliferation of mesenchymal structures. It presents with localized macrodactyly of one or more digits. The characteristic pathology is associated with hypertrophic fibroadipose tissues, more so to the plantar aspect of the foot. This condition can pose a threat to vascular supply, innervation, and even joint function. We present a single case of a 4-year-old male patient who presented with progressive enlargement of a unilateral left fifth digit since birth. The patient became increasingly symptomatic. Amputation was the selected treatment, and on pathological review of the specimen, the diagnosis of MDL was confirmed. The patient is approximately 1 year postoperative and has recovered uneventfully with an improved quality of life. The purpose of this article is to raise awareness of this condition with an emphasis on diagnosis through ancillary imaging results. LEVELS OF EVIDENCE: Therapeutic, Level IV: Case report.

Combined triggering at the wrist and fingers and severe carpal tunnel syndrome caused by macrodystrophia lipomatosa. Case report and review of literature.

Macrodystrophia lipomatosa (MDL) is a rare, congenital, developmental anomaly causing localized overgrowth of a digit(s) or extremity. Trigger wrist is a relatively rare entity, which may be caused by a mass originating from a tendon, an anomalous muscle or intracarpal pathologies. A 42-year-old male patient presented with triggering during active motion of the fingers and intractable pain and numbness in fingers to our emergency department. He had hypertrophy of the entire right upper extremity and his huge thumb was amputated due to MDL four years ago. The index finger was bigger than the other fingers and thenar eminence area of the hand looked like a large mass. Resection of hypertrophic carpal bone and debulking of large soft tissue mass removed the carpal tunnel symptoms and limited the range of motion of the wrist and fingers. This is a case report of triggering at the wrist and severe carpal tunnel syndrome due to carpal bone enlargement and lipofibromatous hamartoma (LH) of the median nerve in a patient with MDL.

Bilateral macrodystrophia lipomatosa with syndactyly: a case report and literature review.

Macrodystrophia lipomatosa is a rare, non-hereditary form of congenital local gigantism characterised by enlargement and hypertrophy of all mesenchymal tissue components with a disproportionate increase in adipose tissue. This form of macrodactyly has been reported in association with other anomalies including polydactyly, brachydactyly, syndactyly, and symphalangism. We describe a previously unreported case of bilateral upper extremity macrodystrophia lipomatosa with syndactyly in a 23-month-old boy. In this report, we emphasise the importance of establishing a diagnosis with imaging and review the described surgical approaches to treating this difficult condition.

Interdisciplinary management of congenital infiltrating lipomatosis.

Congenital infiltrating lipomatosis is a benign yet locally invasive lipomatous tumor. Current treatment involves surgical excision and reconstruction of craniofacial deformity. Invasion of vital structures often makes complete resection problematic and recurrence is common. We present the case of a 15-year-old female patient with extensive congenital infiltrating lipomatosis involving the left face. A broad treatment algorithm was devised involving surgical resection as well as targeted chemotherapy. At 18 month follow-up the patient demonstrated improved facial symmetry without evidence of disease progression. Combining surgical and medical intervention may allow for a synergistic approach to controlling this rare disease.

A solution for surgical treatment of the combination lipofibromatous hamartoma and macrodystrophia lipomatosa: "vascularised digital nerve flap".

A 28-year-old man presented with a disproportionate enlargement of the fourth finger of the left hand since birth. This patient appeared to have a combination of lipofibromatous hamartoma and macrodystrophia lipomatosa. Surgical success was gained after elevation of a "vascularised digital nerve flap" and the distal resection. This method has not been described previously. We believe that it can be useful in selected cases.