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Parry-Romberg syndrome is a rare neurocutaneous disease characterized by progressive hemifacial atrophy. We present the case of a 14-year-old, a known case of linear morphea, who presented with seizure and on evaluation was diagnosed with Parry-Romberg syndrome. It causes a profound impact on aesthetic well-being and has a significant psychosocial morbidity. This case report aims to highlight the effective multidisciplinary team approach involving a rheumatologist, dermatologist, neurologist, and ophthalmologist which ultimately culminated in the meticulous management of the disease in our patient.

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Key Clinical Message: Parry-Romberg syndrome is characterized by progressive dystrophy in one half of the face, which usually begins in childhood. Correct and timely diagnosis of this disease, as well as a multidisciplinary approach and timely surgical treatment to minimize the psychological effects and improve the patient's appearance are of particular importance. Abstract: Parry-Romberg syndrome is characterized by progressive dystrophy or loss of subcutaneous tissue in one half of the face, which usually begins in childhood and continues with skin changes, and can also be associated with linear scleroderma. Although this disease has been known for more than 150 years, its exact cause and pathogenesis are not well understood. The clinical feature of Parry-Romberg syndrome that makes it possible to diagnose is unilateral idiopathic facial atrophy. The reported case is a 14-year-old boy who suffered from hemifacial atrophy of the frontal area since he was 7 years old was referred to a plastic and cosmetic surgery specialist and underwent surgery without systemic symptoms and in the inactive phase of the disease. Correct and timely diagnosis of this disease, as well as a multidisciplinary approach and timely and appropriate surgical treatment to minimize the psychological effects and improve the patient's appearance are of particular importance.

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BACKGROUND: Parry-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 PRESENTATION: A 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. CONCLUSIONS: Here 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.

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INTRODUCTION: Progressive hemifacial atrophy (PHA) is a nonnegligible disease, and its treatment currently lacks consensus. We aim to conduct an analysis of PHA patients to summarize the postoperative effect. Moreover, we introduced the free serratus anterior muscle-fascial composite tissue flap as a safe and novelty surgical procedure for moderate-severe PHA. METHODS: This clinical study included four patients who received a free serratus anterior muscle-fascial composite tissue flap and 19 patients who received Coleman fat transplantation. Preoperative (preoperative photograph and imageological examination) and postoperative (postoperative photograph, complications, therapeutic effect, and satisfaction) assessments were performed for all PHA patients. Body Image Concern Inventory (BICI), Self-rating Anxiety Scale (SAS), Self-rating Depression Scale (SDS) were performed preoperatively and postoperatively. RESULTS: All the cases were cured with a good appearance with two kinds of operations. Free serratus anterior muscle-fascial composite tissue flap could correct face defects in one surgery and achieve good long time and short-time postoperative satisfaction in moderate-severe PHA. Fat transplantation could also enhance appearance in numerous operations for mild-moderate PHA. The volume of free-fat grafts decreased obviously after implantation in many cases. So, many patients (42.11%) accepted a series of operations to achieve satisfied postoperative effect. BICI, SAS, SDS score decreased a year later in all patients. CONCLUSION: Free serratus anterior muscle-fascial composite tissue flap transplantation is an effective and safe treatment for moderate to severe PHA.

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Morphea en coup de sabre and progressive hemifacial atrophy are extremely rare connective tissue disorders causing facial deformity. In extreme cases, morphological disorders are accompanied by symptoms of a clear impairment of the stomatognathic system. The aetiology of the above-mentioned diseases is still unknown. Properly planned therapy in the field of maxillofacial orthopaedics makes it possible to correct the asymmetric pattern of hard tissue growth and thus enable rehabilitation. The task of augmentation techniques is the volumetric supplementation of tissue defects resulting from atrophic processes. The degree of destruction and the extent of changes determine the method of correction. Mild and moderate defects are treated mainly with biomaterials and autologous adipose tissue. The severe course of hemifacial atrophy and morphea en coup de sabre and the associated significant tissue atrophy necessitate the search for more complex methods of treatment. In this paper, we summarize the disturbances of the stomatognathic system in patients with craniofacial morphea, together with an analysis of current treatment options.

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OBJECTIVE: In this study, we investigate the biological characteristics of ADSCs from patients with progressive hemifacial atrophy (PHA) in vivo and try to explore the theoretical support for cell-assisted lipotransfer in treating patients with PHA. METHODS: ADSCs and exosomes were respectively extracted from patients with PHA and healthy ones. PHA-ADSC was detected the differentiation ability, phenotype, and anoxic resistance. NTA particle size, electron microscopy (TEM), and WB for CD63 and TSG10 were used to detect the exosomes. ADSCs of PHA (PHA-ADSCs) and healthy ones (NORM-ADSCs) mixed with their granular fat, exosomes mixed with PHA-granular fat, and PBS mixed with PHA-granular fat as the control group. The four groups of different grafts were, respectively, transplanted into nude mice, and the fat grafts were dissected and weighed at 2, 4, 8 and 12 w. Weight and volume retention were calculated for each of the four groups. Then, the four groups of fat grafts were tested for hematoxylin-eosin (HE) and immunohistochemical stainings, CD31 for blood vessel formation, CD68 for macrophage infiltration, and perilipin for fat formation, RT-PCR analysis of the APRC5, ATG5, ATG7, ATG12, BAX, PPARG, CDKN1A, and CDKN2A genes. RESULTS: ADSCs in the PHA group had typical phenotypes and multidirectional abilities. The PHA-ADSCs -assisted lipotransfer group, exhibited a weaker droplet formation and lower volume retention rate than the NORM-ADSCs-assisted lipotransfer group but much better than the non-cell-assisted lipotransfer group. Exosome-assisted lipotransfer group showed benefits, too. CONCLUSIONS: The PHA-ADSCs-assisted lipotransfer and the exosome-assisted lipotransfer improved the fat survival rate after fat filling in patients with hemifacial atrophy. Cell-assisted and exosome-assisted lipotransfer is an effective method to treat hemifacial atrophy.

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OBJECTIVE: In this study, we investigate the biological characteristics of ADSCs from the liposuction area in patients with hemifacial atrophy in vitro. METHODS: ADSCs were respectively extracted from the donor site of patients with hemifacial atrophy and healthy ones. ADSCs of two groups were respectively tested for proliferation ability, phenotype, multipotency, migration ability, self-repair ability, apoptosis, and autophagy. Exosomes extracted from the supernatant of two groups were detected by NTA particle size, electron microscopy (TEM), and WB for CD63 and TSG10, respectively. RESULTS: CCK-8 showed a statistically less increase in cell proliferation in PHA-ADSCs after the sixth day. ADSCs in both groups had typical phenotypes and multidirectional abilities. PHA-ADSCs exhibited weaker droplet formation. The cell migration ability in PHA-ADSCs was weaker tested by Transwell assay. The live/dead proportion calculated by ImageJ following calcein-AM/PI double staining revealed live cells in PHA-ADSCs was 46.11% compared with 54.21% in NORM-ADSCs after OGD treatment. A significant down-regulation of ATG7 and ATG12 and a higher percentage of apoptosis were found in PHA-ADSCs. A significant up-regulation of BAX occurred in PHA-ADSCs.ARPC5 expression in the PHA group was extremely distinct down-regulated.CDKN1A and CDKN2A expression in the PHA group was significantly up-regulated.WB analyses confirmed that both groups' ADSCs-Exosomes surface markers CD63 and TSG101 were positively expressed but varied significantly. CONCLUSIONS: PHA-ADSCs exhibited a poorer proliferation ability, higher apoptosis percentage, weaker lipid droplets formation, weaker cell migration, poorer intolerance to OGD, aging earlier, and weaker self-renewal and repairability.PHA-ADSCs-Exosomes showed low expressions of CD63 and TSG101.This study provides strong evidence that the addition of exosomes with specific cytokines can improve the fat survival rate after fat filling in patients with hemifacial atrophy. NO LEVEL ASSIGNED: This journal requires that authors 42 assign a level of evidence to each submission to which 43 Evidence-Based Medicine rankings are applicable. This 44 excludes Review Articles, Book Reviews, and manuscripts 45 that concern Basic Science, Animal Studies, Cadaver 46 Studies, and Experimental Studies. For a full description of 47 these Evidence-Based Medicine ratings, please refer to the 48 Table of Contents or the online Instructions to Authors 49 https://www.springer.com/00266 .

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Parry Romberg syndrome (PRS), also known as progressive hemifacial atrophy, is a very rare self-limiting disease, which affects the skin and subcutaneous tissues, underlying musculature, cartilage, and bony structures of one half of the face with a resultant hemiatrophy and alopecia areata. It presents in children and young adults, with a slow progression of the atrophy for several years, and then becomes stable. Magnetic resonance imaging (MRI) or computed tomography (CT) scan of the cranium demonstrates the radiological feature of hemiatrophy very clearly. We report a case of PRS in a nine-year-old girl with characteristic features which was diagnosed based on medical history, clinical signs, and radiological findings on cranial CT scan and MRI.

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Purpose: This work aims to present a case of retinal vasculitis associated with Parry-Romberg syndrome. Method: A case report is presented. Results: A 17-year-old man with new floaters was found to have 20/40 vision with 1+ vitreous cell and retinal vasculitis in the right eye only. Workup for infectious etiologies did not reveal an explanation for the retinal vasculitis. However, magnetic resonance imaging of the head showed areas of linear band-like atrophy and scarring of the scalp and soft tissues as well as areas of gliosis and encephalomalacia in the subcortical white matter, all of which were consistent with Parry-Romberg syndrome. The patient was prescribed oral steroids and methotrexate, and the retinal vasculitis improved. Conclusions: Parry-Romberg syndrome is a rarely reported cause of retinal vasculitis and should be kept in the differential for retinal vasculitis.

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Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare, slowly progressive disorder characterized by unilateral, painless atrophy of the skin and subcutaneous tissue of the face. Neurological manifestations such as epilepsy, migraine and trigeminal neuralgia are relatively common and accompany in 15-20% of cases. Various etiologies such as infection, trauma, embryonic developmental dysfunction, sympathetic dysfunction and autoimmune disorders have been suggested as possible causes. Here we describe a 37-year-old woman whose disease manifested with dynamic contrast enhanced white matter changes over a period of two years, suggesting a "relapsing-remitting" course. Besides the inflammatory activity, positive serum-autoantibodies, inflammatory findings in cerebrospinal fluid, and an overlapping systemic autoimmune disorder may further support the hypothesis of autoimmune-inflammatory mediated pathogenesis.

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Parry-Romberg syndrome (PRS) and linear sclerosis en coup de sabre (LScs) are rare, related, autoimmune conditions of focal atrophy and sclerosis of head and face which are associated with the development of focal epilepsy. The scarcity of PRS and LScs cases has made an evidence-based approach to optimal treatment of seizures difficult. Here we present a large systematic review of the literature evaluating 137 cases of PRS or LScs, as well as three new cases with epilepsy that span the spectrum of severity, treatments, and outcomes in these syndromes. Analysis showed that intracranial abnormalities and epileptic foci localized ipsilateral to the external (skin, eye, mouth) manifestations by imaging or EEG in 92% and 80% of cases, respectively. Epilepsy developed before external abnormalities in 19% of cases and after external disease onset in 66% of cases, with decreasing risk the further from the start of external symptoms. We found that over half of individuals affected may achieve seizure freedom with anti-seizure medications (ASMs) alone or in combination with immunomodulatory therapy (IMT), while a smaller number of individuals benefitted from epilepsy surgery. Although analysis of case reports has the risk of bias or omission, this is currently the best source of clinical information on epilepsy in PRS/LScs-spectrum disease. The paucity of higher quality information requires improved case identification and tracking. Toward this effort, all data have been deposited in a Synapse.org database for case collection with the potential for international collaboration.

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Objective:To analyze clinical, laboratory and imaging characteristics of different subtypes of linear morphea (LM) , and to propose an appropriate approach to the diagnosis and severity assessment of LM.Methods:Clinical data were collected from patients with clinically and/or pathologically confirmed LM in Department of Dermatology, West China Hospital, Sichuan University from January 2018 to December 2019, and retrospectively analyzed.Results:A total of 107 patients with LM were enrolled into this study, including 63 with LM of the limbs/trunk, 22 with morphea en coup de sabre, 11 with progressive hemifacial atrophy and 11 with eosinophilic fasciitis. Disease severity was evaluated by using the modified localized scleroderma skin severity index (mLoSSI) and localized scleroderma skin damage index (LoSDI) scores in 88 patients, with the mLoSSI scores ranging from 0 to 51 points, and the LoSDI scores ranging from 0 to 40 points. Routine blood examination of 10 patients with eosinophilic fasciitis showed increased eosinophil counts in 4 patients. Thirteen (14.8%) of 88 patients with LM were positive for antinuclear antibody, with titers of ≥ 1∶320. Magnetic resonance imaging (MRI) examination showed ipsilateral cerebral hemisphere atrophy and contralateral white matter hyperintensity on T2-weighted images in 2 out of 4 patients with progressive hemifacial atrophy, myofascial thickening in 26 out of 28 patients with LM of the limbs/trunk (92.9%) , subcutaneous septal and myofascial thickening in all 11 patients with eosinophilic fasciitis.Conclusions:The preliminary assessment of disease activity, severity and prognosis of LM can be made by mLoSSI and LoSDI. MRI examination is recommended for patients with clinical signs of involvement of subcutaneous structures.

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Progressive hemifacial atrophy (PHA) is mainly characterized by asymmetrical atrophy of craniofacial tissue; however, 10% to 30% of patients with PHA exhibit ocular manifestations. Here, we describe abnormal ocular findings in a Chinese patient with PHA. The patient was a 29-year-old Chinese man. Characteristic ocular findings in his affected eye included keratic precipitate, corneal endothelial degeneration, fundus tessellation, pupillary dilation, direct light reflex loss, and visual evoked potential alteration. Whole exosome sequencing revealed that the patient harbored a mutation in the CRB1 gene; this gene has been associated with various retinal dystrophies. During 10 years of follow-up, the patient's ocular status remained stable. To the best of our knowledge, this is the first report of ocular manifestations of PHA in a Chinese patient, and the first report of a CRB1 mutation in a patient with PHA; these findings may inform future research regarding PHA.

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Progressive hemifacial atrophyor Parry-Romberg syndromeis a rare disease, classified as one of the forms of localized morphea or scleroderma. Its cause is unknown. It is characterized by atrophy of the skin, fat, muscles and underlying osteocartilaginous structures that usually affects the face and neck unilaterally, and is associated with neurological symptoms (secondary epilepsy) and involvement of other organs and systems. Its course is slow and progressive and begins in the first two decades of life. Predilection for female sex has been observed. We report the case of a 10-year-old girl diagnosed at the Hipólito Unánue Hospital in Tacna, Peru. Knowledge of this condition is important in the differential diagnosis of localized morpheas or scleroderma.

La atrofia hemifacial progresiva o síndrome de Parry-Romberg es una enfermedad rara, clasificada como una de las formas de morfea o esclerodermia localizada. Su causa es desconocida. Se caracteriza por la atrofia de la piel, tejido celular subcutáneo, músculos y estructuras osteocartilaginosas subyacentes que afecta usualmente unilateralmente la cara y cuello, se asocia a síntomas neurológicos y afección de otros órganos y sistemas. Su curso es lento y progresivo y se inicia generalmente en las primeras dos décadas de la vida. Se ha observado predilección por el sexo femenino. Presentamos el caso de una niña de 10 años, diagnosticada en el Hospital Hipólito Unánue de Tacna, Perú.

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BACKGROUND: Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare degenerative disorder with numerous distinctive clinical presentations. It is usually slowly progressive, occurring more in females, and affects primarily one side of the face; it causes unilateral atrophy and loss of skin, subcutaneous tissue, muscles, and bones, and can even extend to oral structures. Other involvements that can occur are ocular and neurological; however, it is frequently associated with linear scleroderma, known as en coup de sabre. The etiology of the disorder is unknown, although some consider it a variant of morphea (localized scleroderma) and others proposed a malfunction of the sympathetic system as a cause. Imaging studies can support diagnosis and reveal the extent of the disease. Moreover, with the wide systemic involvement in such a condition, a multidisciplinary approach is crucial. CASE PRESENTATION: A 35-year-old Dinka woman presented with left hemifacial atrophy associated with left-sided body hemihypoesthesia and glaucoma with overlapping linear scleroderma "en coup de sabre" for 5 years. CONCLUSIONS: Parry-Romberg syndrome is a very rare entity causing progressive hemifacial atrophy that could also be associated with linear scleroderma. It has devastating outcomes due to its various systemic involvements; therefore, a multidisciplinary approach is required together with further studies to be performed in order to identify the key etiology and construct a clear guideline for management.

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Parry Romberg Syndrome or Progressive Hemifacial Atrophy is a rare disease usually affecting one side of face with loss of soft and hard tissues. The disease appears suddenly and is usually self-limiting in 2-10 years time. The loss of soft and hard tissue leads to aesthetic and functional deficits which are compounded by the presence of associated symptoms like neuralgia, migraine, epilepsy and ocular involvement. The degree of deformity depends on the age at which the disease manifests first; the younger the age, the more severe the deformity. These patients undergo severe psychological trauma and social problems. The exact etiology is not known, and treatment is largely cosmetic. A report of three cases and a literature review is presented.

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Parry-Romberg syndrome, or progressive hemifacial atrophy, is a rare disorder of unknown etiology. Patients present with unilateral atrophy of skin that may progress to involve underlying fat, muscle, and osseocartilaginous structures. Neurologic complications are common. After self-limited disease stabilization, various reconstructive options may be used to restore patients' facial symmetry. Serial autologous fat grafting has shown favorable results in reconstruction of mild or moderate soft tissue deficiency, but free tissue transfer remains the treatment of choice for severe disease.

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PURPOSE OF REVIEW: To describe diverse neurologic and neuroradiologic presentations of two rare, immunologically mediated skin conditions: Sweet disease and localized scleroderma (morphea). RECENT FINDINGS: Core syndromes of neuro-Sweet disease (NSD) are steroid responsiveness, recurrent meningitis, and encephalitis. Focal neurologic, neuro-vascular, and neuro-ophthalmologic syndromes have been reported recently in NSD. A variety of steroid-sparing treatments and biologics have been used for relapsing NSD. Localized craniofacial scleroderma is associated with seizures, headaches, and, less commonly, focal deficits and cognitive decline. Immunosuppressive therapy may be required in patients with disease progression; some refractory cases have responded to IL-6 inhibition. Our review provides an up-to-date reference for neurologists faced with a patient with a history or skin findings consistent with Sweet disease or localized scleroderma. We hope that it will stimulate collaborative studies aimed at unraveling the pathogenesis of these disorders, better characterization of their neurologic manifestations, and discovery of optimal therapeutic solutions.

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