Hemiatrophy Research Articles

Most common congenital syndromes with facial asymmetry: A narrative review.

Symmetry is present in various aspects of everyday life. A symmetrical face is considered attractive, whereas a lack of facial symmetry is regarded as a source of functional and aesthetic problems. Most of the people exhibit slight asymmetries, but some of them reveal severe asymmetries. Among patients presenting with severe facial asymmetries, there may be those with congenital defects. Congenital defects may manifest at the time of birth or be a result of birth trauma.One of the most prevalent asymmetrical birth defects is cleft lip and/or cleft palate. Other congenital defects include craniofacial syndromes, such as Treacher Collins syndrome (TCS) and Goldenhar syndrome. Among the rare syndromes with facial asymmetries, Klippel-Feil syndrome (KFS), PHACE (posterior fossa brain malformation, hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities) syndrome, plagiocephaly, and Parry-Romberg syndrome are worth noticing. The majority of craniofacial asymmetries require surgery to improve the patient's facial appearance. The treatment is multidisciplinary and long, and the most common procedures involve reparative and regenerative surgeries. The aim of this review was to present the most common congenital defects with facial asymmetry.

Nasolabial Transfer Flap with Auricular Cartilage Graft after Fat Grafting for Nasal Ala Reconstruction in Parry-Romberg Syndrome.

Alar atrophy associated with Parry-Romberg syndrome (PRS) can lead to significant nasal contour deformities. The primary objective of this study was to address nasal alar deformities in PRS patients through the application of a nasolabial transfer flap combined with an auricular cartilage graft after sequential fat grafting. All PRS patients with alar deformities who underwent our reconstructive surgery were included in this case series. Sequential fat grafting was performed on the affected nasolabial area, followed by a nasolabial transfer flap combined with an auricular cartilage graft. Surgical outcome and complications were recorded during postoperative follow-up. From September 2021 to November 2023, a total of 14 PRS patients presenting nasal alar defects underwent nasolabial transfer flap combined with an auricular cartilage graft after sequential fat grafting. Complications at 1 month postoperatively included partial flap necrosis (21%), hyperplastic scarring (14%), undercorrection (14%), overcorrection (7%), and pain (7%). The surgery significantly improved the patient's nasal symmetry. FACE-Q questionnaire indicated the overall aesthetic outcome and quality of life were deemed satisfactory for all patients. After sequential fat grafting, the nasolabial fold transfer flap with an auricular cartilage graft is effective to address alar deformities associated with PRS. This journal requires that authors assign a level of evidence to each article. 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.

Superior retention of aged fat graft by supplementing young adipose-derived stromal cells in a murine model.

In 2021, a meta-analysis showed fat graft retention varied from 26 to 83%. In a retrospective study including patients with Parry-Romberg syndrome, the younger age group had higher satisfaction scores (3.8 vs. 3.0) after fat grafting. Cell-assisted lipotransfer (CAL) could be an alternative to overcome the instability of volume loss; however, no study investigated its effect on old recipients. In an in vitro study, adipose-derived stromal cells (ASCs) from aged and young (52- and 8-weeks old) DsRed B6 mice were characterized by proliferation rates as percentages of Ki-67-positive cells. 68-week-old wild type B6 mice received 150 µL of green fluorescent protein fat (from 69-week-old B6 mice) mixed with saline, 3 x 105 aged or young DsRed ASCs (N, A, and Y groups, respectively) on the scalp (n = 6/group). After 8 weeks, graft volumes were evaluated using micro-computed tomography. Vessel densities were tracked by percentages of CD31 using immunofluorescence staining. Young ASCs showed higher proliferation than the aged (47.1% and 26.2%, respectively, p < 0.05). The Y group showed the highest graft retention (median: N = 41.0%, A = 52.2%, Y = 65.2%, p < 0.05) and percentage of blood vessels (median: N = 27.7%, A = 43.5%, Y = 54.7%, p < 0.05) among the three groups. CAL is effective with old recipients; higher effect was observed by supplementation with younger ASCs due to higher angiogenesis stimulation. However, this is autologous grafting model, further validation of safety, toxicity, and allogenic grafting is required. The results suggest that it is clinically possible to conduct CAL for old adults using autologous ASCs. However, further validation of using allogenic ASCs from young donors to improve graft retention in old adults is required.

A rare case of Parry-Romberg syndrome with restrictive strabismus

Parry-Romberg syndrome is a rare disease characterized by slowly progressive atrophy affecting facial subcutaneous tissues, muscles, osteocartilaginous structures, and possible cerebral involvement. Though bilateral cases have been described, diagnosis is often possible because of the characteristic hemifacial atrophy and resulting facial asymmetry at later stages of the disease. We report a 28-year-old woman with diplopia for the past 3 months with history of gradual loss of subcutaneous fat in the right side of her body. She had severe restriction of adduction of right eye. Multidetector computed tomography scan of the orbit revealed a reduced bulk of the right medial rectus muscle.

Unveiling Parry-Romberg Syndrome With Native Demyelinating Etiology as the Underlying Cause

Parry-Romberg Syndrome (PRS) is an atypical condition characterized by hemiatrophy of the face. Despite its rarity, the precise pathophysiological processes underlying its etiology remain elusive. While previous reports have hinted at the potential involvement of autoimmune factors, our case report aims to explore a novel perspective. Specifically, we pose the question of whether multiple sclerosis (MS) could be a plausible causative factor for PRS. Additionally, we investigate the potential association between Radiologically Isolated Syndrome (RIS) and the development of Parry-Romberg Syndrome.

Surgical Management of Parry-Romberg Syndrome: An in-Depth Review of Techniques and Outcomes

Surgical Management of Parry-Romberg Syndrome: An in-Depth Review of Techniques and Outcomes

Managing Soft Tissue Defects in Parry-Romberg Syndrome: An Individualized Approach.

Parry-Romberg syndrome (PRS) is a rare condition characterized by a progressive shrinkage and degeneration of the tissues beneath the skin, usually on one side of the face. Managing this disease presents numerous challenges due to its heterogeneity and unpredictable outcomes. The existing literature is primarily composed of case reports and series, leading to a lack of comprehensive guidelines on surgical intervention for the various manifestations of PRS. We propose an approach to address these challenges and optimize surgical outcomes. We conducted a retrospective review of all patients who underwent surgical correction for PRS between 2012 and 2022. Surgical interventions were determined based on the location and severity of the facial defect. The revision procedures were tailored to each patient until they were satisfied with the results. Eleven patients underwent surgical correction, with an average of 3.2 procedures per patient. Fat grafting or dermal fat grafting was sufficiently effective for mild deficits in all areas and for upper-third deficits regardless of severity. For moderate to severe defects in the mid and lower face, a combination of buried free flaps and fat grafting yielded satisfactory results. Upon final revision, all patients rated their results as satisfactory or excellent. We propose an approach to surgical management that takes into account the specific deficits of each patient. Our approach has proven to yield aesthetically pleasing and reliable results, aligning with findings in the existing literature. This method could provide a foundation for standardized guidelines and improve the prognosis for individuals with PRS.

A patient's experience of progressive hemifacial atrophy.

Progressive hemifacial atrophy (PHA) is a rare idiopathic disorder that can have a significant impact on quality of life. Herein, a patient describes his experience of the condition.

Parry-Romberg syndrome following COVID-19 vaccination.

Parry–Romberg syndrome is an uncommon disorder characterized by hemifacial atrophy of the skin. We present an unusual case of COVID-19 vaccine-induced Parry–Romberg syndrome. To our knowledge, no previous cases have been reported.

Microvascular Decompression Plus Partial Resection of Trigeminal Nerve Motor Root for Hemimasticatory Spasm Combined With Hemifacial Atrophy: A Good Choice or Not?

Hemimasticatory spasm (HMS) combined with hemifacial atrophy is a rare clinical entity with an unclear etiology. The authors report a 58-year-old female suffering from HMS and hemifacial atrophy, which performed microvascular decompression plus partial resection of the trigeminal nerve motor root, which is the first report in worldwide. The vascular compression of the trigeminal nerve motor root was found in surgery, the authors completed the aforementioned surgical method. The symptoms of HMS disappeared after surgery but recurred after 8 months.

Lens subluxation combined with parry-romberg syndrome: case report

BackgroundParry-Romberg syndrome (PRS) is a rare progressive degenerative disorder of unknown etiology. Here we report a rare case of PRS combined with lens subluxation in Eye and ENT hospital of Fudan University, Shanghai. To our knowledge, it is the first reported case of PRS combined with lens subluxation that has been managed surgically with phacoemulsification and CTR placement and IOL implantation in Shanghai.Case presentationA 60-year-old woman was referred for “right visual blur for 2 years” and had persistent right facial paralysis of unknown etiology since the age 12. She had right facial muscle atrophy and paralysis. Eye examination also showed the right eyelid pseudoptosis, enophthalmos, age-related cataract combined with lens subluxation existed in the right eye. The patient was diagnosed as age-related cataract and lens subluxation in the right eye and progressive hemifacial atrophy (Parry-Romberg syndrome). We conducted a combined phacoemulsification, IOL and CTR implantation and pupilloplasty surgery for the patient under general anesthesia and the postoperative UCVA was 20/30 and remained for 1 year’s follow up.ConclusionsHere we reported a rare case of PHA combined with lens subluxation in China. After appropriate eye surgery, the patient achieved satisfying vision result in the right eye.

A retrospective study of adult patients with Parry-Romberg syndrome.

Parry–Romberg syndrome (PRS), also known as progressive hemifacial atrophy, is characterized by atrophy of the skin and subcutaneous tissue, including muscle, bone and cartilage. PRS is a clinical diagnosis, although supportive imaging and histology may be obtained. We present a case series of 10 adult patients with a diagnosis of PRS seen at Massachusetts General Hospital and Brigham and Women’s Hospital from 2000 to 2021. Nine of 10 patients were women, with a mean (SD) age at onset of 27.3 (12.1) years and a mean (SD) of 12.4 (7.8) years between disease onset and diagnosis. Of the 10 patients, 4 had biopsies with supportive histopathology findings and 7 had positive imaging findings. Patients typically received both medical and surgical treatments.

Treatment of Hemimasticatory Spasm and Facial Myokymia Associated with Hemifacial Atrophy and Localized Morphea with Botulinum Neurotoxin and Immunotherapy

Treatment of Hemimasticatory Spasm and Facial Myokymia Associated with Hemifacial Atrophy and Localized Morphea with Botulinum Neurotoxin and Immunotherapy

Late-onset Parry-Romberg Syndrome with Atypical Neurological Manifestations: A Case Report (P11-11.015)

Late-onset Parry-Romberg Syndrome with Atypical Neurological Manifestations: A Case Report (P11-11.015)

Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature.

Hemimasticatory spasm (HMS) is a rare movement disorder characterized by paroxysmal spasms or twitches of the unilateral jaw-closing muscles. This study aimed to comprehensively evaluate the clinical features of patients with HMS. Data from 17 patients newly diagnosed with HMS (12 females and 5 males; mean age at onset: 46.7 years) who visited our department were retrospectively analyzed, and a literature search based on electronic medical databases from their inception until November 30, 2023, was conducted. A manual search was conducted for articles cited in the related literature. A total of 117 cases (72 females and 45 males; mean age at onset: 37.1 years) from 57 studies were analyzed. The muscles involved were the masseter (97.4%), temporalis (47.9%), and medial pterygoid (6%). Morphea or scleroderma was observed in 23.9% of the patients, and facial hemiatrophy in 27.4%. In 17.9% of the cases, Parry-Romberg syndrome was either complicated or suspected. Typical electromyographic findings included the absence of a silent period during spasms (23.9%) and irregular brief bursts of multiple motor unit potentials. Oral medicines, such as clonazepam or carbamazepine, alleviated the symptoms for some patients but were often unsatisfactory. Botulinum toxin therapy was effective in most cases. Recently, microvascular decompression surgery is increasingly being used, resulting in complete relief in some cases. In conclusion, highly effective modalities are currently available, and it is necessary to raise awareness of HMS to ensure that it can be diagnosed and treated accurately by both medical and dental professionals.

Immunological Profiles in Parry-Romberg Syndrome: A Case-Control Study.

Background: Parry-Romberg syndrome (PRS) is a rare craniofacial disorder. The aim of this study is to provide information on the immunological profile of this pathology. Since PRS can be included in a wider spectrum of sclerodermic diseases, we propose a case-control study comparing a patient affected by PRS with one with a diagnosis of scleroderma, herein used as control (CTR). Methods: B lymphocyte, T lymphocyte, and monocyte phenotypes and functions were assessed by flow cytometry in influenza (Flu)- or anti cluster differentiation (CD)3/CD28-stimulated peripheral blood mononuclear cells (PBMCs). Cytokine concentration was evaluated as well in PBMC supernatants, plasma, and saliva by Luminex assay. Results: T and B lymphocytes were similarly activated in unstimulated PRS and CTR cells but differed following antigen stimulation. T helper (Th)17 lymphocytes were expanded in PRS compared to CTR; this increase correlated with higher interleukin (IL)-17 concentration. Conclusions: Our case-control study is the first to compare the immunological profiles of PRS and scleroderma patients. The higher percentage of Th17 cells in PRS suggests the use of anti-IL17 receptor monoclonal antibody in this rare disease; however, further studies with larger numbers of patients are needed to confirm our findings.

Discussion: Treatment of Progressive Hemifacial Atrophy by Cartilage Graft and Free Adipofascial Flap Combined with Three-Dimensional Planning.

Discussion: Treatment of Progressive Hemifacial Atrophy by Cartilage Graft and Free Adipofascial Flap Combined with Three-Dimensional Planning.

Localized scleroderma

Localized scleroderma (LS), also called circumscribed scleroderma or morphea, comprises aheterogeneous group of diseases that can be classified into four subtypes: limited, linear, generalized, and mixed LS. All manifestations are primarily due to chronic progressive fibrosis of the skin or structures close to the skin. Involvement of internal organs or the transition to systemic sclerosis is excluded by definition. Adistinction is made between forms that primarily affect the skin (up to the dermis) or that severely involve subcutaneous fat tissue, muscle fascia or muscles. Adetailed examination is required for clinical diagnosis. In order to improve comparability of findings, photo documentation and the use of clinical scores should be carried out. For superficial subtypes the use of topical glucocorticosteroids, calcineurin inhibitors or phototherapy is initially recommended, whereas for severe forms with deep involvement or overall therapy refractoriness, the diagnosis should first be expanded and systemic therapy initiated at an early stage. Especially, in cross joint or extremity-dominant forms of linear LS or in cases with head and neck involvement, such as en coup de sabre, Parry-Romberg syndrome and other subtypes with aprominent musculoskeletal affection, an MRI examination should be arranged. Depending on location, an ophthalmological, neurological, orthodontic, rheumatological or orthopedic consultation may be necessary. For systemic therapy, methotrexate alone or in combination with systemic glucocorticosteroids as pulse therapy is recommended as first-line treatment.

Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury

PurposeParry-Romberg syndrome (PRS) is a rare disorder characterized by slowly progressive hemifacial atrophy. Although the underlying etiology is unknown, proposed disease mechanisms which include autoimmune, infection, trauma, and other causes have been proposed as underlying disease mechanisms. Approximately, 10–20% of PRS patients have neurologic manifestations such as epilepsy, headaches, or associated vascular malformations. There are reports of PRS responsive to immunosuppressive medications, supporting the autoimmune hypothesis. Currently, the neuropathologic findings in patients with PRS are not well documented.MethodsHerein, we present a case of a 19-year-old female with PRS, who underwent partial frontal lobectomy for intractable epilepsy.ResultsThe resection specimen showed multifocal active lymphocytic (T-cell mediated) arteritis in midsized cortical arterioles, with the adjacent meninges showing fibrosis involving both the meningeal tissue and its vascular network. In addition, neuronal loss and gliosis were evident in the cortex, likely due to the associated vascular injury.ConclusionsThis report is the first to demonstrate active cerebral vasculitis in a patient with PRS, supporting the previous suspicion of inflammatory etiology in this disease. In addition, the widespread vascular fibrosis in the meningeal vessels and an area of cortical ischemia support the presence of previous inflammatory vascular processes in the area.

Airway Ultrasound Findings in a Rare Case of Parry–Romberg Syndrome

Parry–Romberg syndrome (PRS) is a rare disorder characterised by progressive hemifacial atrophy, along with various neurological and ophthalmological manifestations. Patients with PRS may undergo reconstructive procedures such as fat grafting to address the facial contour deformities. Anaesthesiologists may face significant challenges due to the asymmetric craniofacial structures and the potential presence of neurological deficits, including hemiparesis. We report a case of an 18-year-old male with left-sided hemifacial atrophy and PRS with wasting of one side of the lobe of the thyroid gland who underwent fat grafting under general anaesthesia. The challenges faced during the anaesthetic management of this patient are airway management, positioning and monitoring of neurological deficits. PRS has been reported to coexist with other autoimmune diseases, including thyroid disorders. However, thyroid involvement in PRS is rare. This case used ultrasound to evaluate the airway and assess PRS impact. This case highlights the importance of ultrasound airway, which can serve as an effective tool for identifying associated conditions (like thyroid atrophy) in patients with PRS and can assist in the diagnosis and management of this rare and complex disease.