Hemiatrophy Research Articles

Linear Scleroderma en Coup de Sabre Presenting with Stroke and Seizure (P3-5.022)

<h3>Objective:</h3> To describe the neurologic complications and imaging findings in a patient with linear scleroderma <i>en coup de sabre</i> (LScs) and associated Parry-Romberg syndrome. <h3>Background:</h3> LScs is a rare subset of localized scleroderma. Once thought to be an exclusively cutaneous disorder, recent studies suggest that rheumatologic, ophthalmologic, and neurologic symptoms occur in up to 20% of cases. <h3>Design/Methods:</h3> Case report. <h3>Results:</h3> A 32-year-old woman with LScs, associated Parry-Romberg syndrome, migraine, and prior left hemispheric stroke thought to be secondary to vasculitis presented with right arm and leg numbness. She had left hemifacial atrophy. Brain MRI showed an acute ischemic stroke in the posterior limb of the left internal capsule and a chronic T2/FLAIR-hyperintensity in the left frontal lobe immediately beneath the cutaneous forehead and scalp scar. She was previously on mycophenolate for presumed vasculitis, however she had discontinued it due to concern about immunosuppression during the COVID-19 pandemic. Computed tomography angiography, digital subtraction angiography and lumbar puncture were normal. Her stroke was thought to be due to small vessel occlusion. The occurrence of two ischemic strokes ipsilateral to the cutaneous changes and facial atrophy, the ipsilateral MRI findings mirroring the <i>coup de sabre</i> scar, and the occurrence of the new stroke after discontinuation of mycophenolate together suggest an underlying vasculopathy/vasculitis associated with her scleroderma. Her hospital course was complicated by episodes of rapid rhythmic shaking of the right leg with no alteration of awareness, suggesting simple focal motor seizures. She was started on a prednisone with plans for steroid-sparing immunosuppressive therapy (rituximab and mycophenolate). On follow-up evaluation, she was recovering well. <h3>Conclusions:</h3> LScs and Parry-Romberg syndrome are associated with multiple neurologic complications including ischemic strokes, seizures, and headaches. This case highlights the underrecognized relationship between neurologic complications and LScs and suggests an underlying inflammatory process responsive to immunosuppressive therapy. <b>Disclosure:</b> Dr. Greige has nothing to disclose. Dr. Feske has received publishing royalties from a publication relating to health care.

Parry-Romberg syndrome - Case report

Parry-Romberg syndrome - Case report

Outcomes of Fat Grafting in the Active Versus Quiescent Phase of Localized Scleroderma.

Introduction: Progressive hemifacial atrophy (PHA) and linear scleroderma (LS) are both rare conditions and defined by atrophy and/or sclerosis of the skin and subcutaneous tissue. The ideal timing of reconstructive intervention in these patients is controversial. We compared the outcome and satisfaction of autologous lipofilling performed during active and stable phases of the diseases in adults. Methods: A retrospective chart review was conducted with all patients diagnosed with PHA or LS between 2007 and 2019 in our department. We analysed demographic data, clinical features, and surgical procedures. The changes in symmetry, volume and skin texture were rated by surgeons at 1 week, 3 months and 6 months compared to the preoperative presentation. We compared the outcomes of patients treated during the active and the stable phase of the disease. Additionally, patients were asked to fill out a quality-of-life questionnaire. Results: We found a total of 11 patients diagnosed with PHA and LS, 8 of whom had undergone autologous fat injections to correct facial asymmetry. Of those, 4 patients were treated in their active and 4 in their stable phase. We found similar treatment outcomes in both groups. The social component had the greatest negative effect on patient's quality of life. Conclusion: In this small cohort, autologous fat grafting during the active phase did not appear to be inferior to fat grafting during the stable phase. It could be a safe technique for correction of PHA and LS during the active phase of disease.

A Case of Linear Scleroderma in a Young Child: A Diagnosis Easily Missed in Primary Care.

BACKGROUND This case illustrates the challenges in diagnosing linear scleroderma (LS) in a child who presented to a primary care setting. Diagnosis of LS is easily missed due to the lack of prominent symptoms, subtle visible skin changes, and under-recognition of this condition. CASE REPORT A 7-year-old boy presented with a linear, painless, non-itchy rash at the center of his forehead, which has been present for 6 months. The rash extends vertically from the hairline to the bridge of the nose. The color gradually evolved from reddish to purplish-grey and shiny within 3 months. He had underlying eczema, allergic rhinitis, and allergic conjunctivitis since birth. His condition remained unrecognized despite consultations with various medical specialties, including family medicine specialist, ophthalmologist, otorhinolaryngologist, and a general pediatrician. Six months after the onset of his lesion, he was subsequently referred to a pediatric dermatologist and pediatric rheumatologist, who made the diagnosis of LS. Laboratory investigations for autoimmune disease showed that negative antinuclear antibodies (ANA) and inflammatory markers, including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), were normal. Skin biopsy provided a tissue confirmation of the diagnosis. MRI of the lesion showed no extension into the underlying muscle or bone erosions. The patient was initially treated with intravenous (IV) methylprednisolone for 3 days, followed by oral methotrexate weekly and prednisolone. The lesion improved after 1 month of treatment, and after 15 months it was less pigmented and less noticeable. CONCLUSIONS LS is the commonest form of localized scleroderma in children. LS on the forehead can erode into the underlying tissues and is sometimes associated with extensive hemifacial atrophy. Treatment should be instituted early to prevent late irreversible fibrotic sequelae. This report aims to highlight the importance of early diagnosis and treatment of an uncommon but potentially disfiguring condition.

Lipofilling Enriched with Adipose-Derived Mesenchymal Stem Cells Improves Soft Tissue Deformities and Reduces Scar Pigmentation: Clinical and Instrumental Evaluation in Plastic Surgery.

Scars and soft tissue deformities (S-STDs), often resulting from hemifacial atrophy, trauma, and outcomes of burns, were usually associated with hyperpigmentation of overlying skin. This study aimed to evaluate the long-term effects of fat grafting commonly called "Lipofilling" enhanced with adipose-derived mesenchymal stem cells (Lipofilling-AD-MSCs) for treating S-STDs with pigmentary changes. A cohort study has been performed. 50 patients affected by S-STDs with hyperpigmentation treated with Lipofilling-AD-MSCs and 50 patients treated with Lipofilling not enhanced (Lipofilling-NE) were prospectively assessed. The pre-op evaluation included a clinical evaluation, a photographic assessment, magnetic resonance imaging, and ultrasound. Post-op follow-up was performed at 1, 3, 7, 12, 24, 48, weeks, and then annually. Improvement in volume contours and pigmentation was clinically assessed. All people who underwent the treatments (Lipofilling-AD-MSCs and Lipofilling-NE) were satisfied with the improving pigmentation, texture, and volume contours with some differences. However, the results reported displaying a better trend in patients treated with Lipofilling-AD-MSCs to be more satisfied than patients treated with Lipofilling-NE (p < 0.0001). In conclusion, Lipofilling-AD-MSCs was the preferred option for improving the contour deformities related to increased pigmentation of scars. Evidence obtained from cohort studies.

Adult-onset Bilateral en coup de sabre – Parry–Romberg syndrome overlap

Adult-onset Bilateral en coup de sabre – Parry–Romberg syndrome overlap

Genetic variations in patient with Parry–Romberg syndrome

Parry–Romberg syndrome is a rare craniofacial disorder which is characterized by progressive facial atrophy. The etiology and pathogenesis of the disease are not known. Herein, we report the genetic variants in patient with this disease. A 25-year-old woman was diagnosed with Parry–Romberg syndrome according to her clinical manifestation, which presented with typical progressive unilateral facial soft tissue atrophy. Using peripheral blood samples, Whole exome sequencing (WES) was conducted on this patient and her parents. Variant loci of the genes were validated by Sanger sequencing in her twin sister who had no Parry–Romberg syndrome. Subsequently, we searched the GeneCards®: the Human Gene Database for variant genes, annotated them and analyzed their functions. The results of WES showed that 2 genes (MTOR, DHX37) were mutated, and the variant loci were MTOR: NM_004958.4: exon31: c.4487A>T: p.Q1496L and DHX37: NM_032656.4: exon17: c.2180C>T: p.T727M, respectively. However, the variant loci were also detected in her twin sister by Sanger sequencing. The Human Gene Database for variant genes shows that the two genes may be associated with craniomaxillofacial developmental abnormalities. Although MTOR and DHX37 genes were tested and found to have mutations in patient with Parry–Romberg syndrome, these variants may not directly determine the clinical phenotype. When studying clinical etiology, other factors, such as the environment, should also be taken into account.

PARRY ROMBERG SYNDROME - A RARE CASE REPORT

The purpose of this report is to present a rare case of Parrv-Romberg syndrome (PRS), also called "progressive hemifacial atrophy". This rare degenerative condition is characterized by atrophic changes affecting one side of the face. The etiology of these changes remains idiopathic. Denitive diagnosis of Parry-Romberg syndrome is based on thorough clinical and radiological examination. Treatment is usually conservative while others include using alloplastic implants to improve facial disgurement was suggested to the patient.

An Unusual Case of Parry–Romberg Syndrome with Chronic Otitis Media: An Incidental Diagnosis or Underlying Cause?

Here, we present a case of a 17-year-old female, who presented to us with bilateral squamous active chronic otitis media and underwent surgery for the same, along with progressive atrophy of the right side of the face for the past 2 years. A 17-year-old female patient presented to us with progressive hemiatrophy of the right side of the face for 2 years and foul-smelling discharge from both ears, also for 2 years. She subsequently underwent a modified radical mastoidectomy of the left ear. Parry–Romberg syndrome is a rare acquired disorder, causing progressive hemiatrophy of the skin and soft tissues of the face, along with, in some cases, atrophy of the muscles, cartilage, and underlying bone. There is no proven underlying etiology, and treatment consists of a delay of disease progression, a wait-and-watch policy, and esthetic restoration of the face once the disease progression halts.

Disturbances of the stomatognathic system and possibilities of its correction in patients with craniofacial morphea.

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.

Eyelid Myokymia as the Presenting Feature of Parry-Romberg Syndrome

Parry-Romberg syndrome is a rare acquired disease of unknown etiology that is classically characterized by progressive atrophy of the skin, subcutaneous tissues, and underlying bone structures. Eyelid myokymia is a disorder of involuntary, fine, continuous, undulating muscle fiber contractions, which is seen as a rippling of the overlying periorbital area. We report a patient with Parry-Romberg syndrome presenting eyelid myokymia.

Idiopathic hemifacial atrophy successfully treated with hyaluronic acid filler: About two new cases

Idiopathic hemifacial atrophy successfully treated with hyaluronic acid filler: About two new cases

Abdominal dermal fat grafting in Parry-Romberg syndrome

Many procedures have been used for correction of the soft tissues atrophy and facial asymmetry in patient with parry-romberg syndrome, including tissue augmentation with either autologous fat, dermal - fat, regional muscle or fascia flap, cartilage or bone grafting and free flap transfere., or the use of synthetic augments like collagen , hhyaluronic acid , alloderm , silicone or medpore materials. My experience with dermal fat grafting in the correction of deformities associated with parry Romberg syndrome is presented.

Clinical and therapeutic course in head variants of linear morphea in adults: a retrospective review

Parry Romberg Syndrome (PRS) and en coup de sabre (ECDS) are head variants of linear morphea with functional and structural implications. This study describes the clinical course, autoimmune co-morbidities, complications, and treatment of adults with PRS/ECDS at a tertiary referral center. We retrospectively reviewed the records of all 34 adult patients with PRS/ECDS identified through billing code search and seen by dermatologists at our institution between 2015 and 2021. Eight patients (23.5%) had ECDS, 8 (23.5%) had PRS, and 18 (52.9%) had overlap. Twenty-six patients (76.5%) reported ocular, oral, and/or neurologic symptoms, and 8 (23.5%) had concomitant autoimmune/inflammatory conditions. Sixteen patients (47.1%) had a skin biopsy, and 25 (73.5%) had imaging. Forty-six MRIs were obtained, of which 6 (13.0%) reported intracranial findings and 25 (54.3%) reported disease-related connective tissue damage. Twenty-four patients (70.6%) underwent systemic treatment during their disease course per available clinical records. Seventeen patients (70.8%) had improved or stable disease upon treatment completion, with an average duration of 22.2 months. Ten patients (41.7%) reported recurrence of disease following the treatment course. To address changes to facial contour, 6 patients (17.6%) opted for procedural treatments. One patient (16.7%) experienced morphea reactivation following a filler injection performed off-immunosuppression. Compared to findings in children, our study suggests adults with PRS/ECDS are more likely to have oral and ocular complications but experience less severe neurologic symptoms. While systemic treatments appear beneficial in most adult patients with PRS/ECDS, disease may recur following discontinuation.

51. Facial and Dental Features of Hemifacial Atrophy

Hemifacial atrophy is a rare, acquired condition of unknown aetiology characterised by progressive unilateral atrophy of the facial tissues. The incidence is unreported. Lesions progress for several years leading to facial deformity and are ultimately self-limiting. We present two cases demonstrating the full range of features of the condition.

Esthetic restoration of progressive hemifacial atrophy (Parry-Romberg disease) by free fat grafting using computerized-assisted mapping.

This study aimed to evaluate the use of fat grafting enriched with platelet-rich plasma through a computerized-assisted mapping for esthetic restoration in progressive hemifacial atrophy (Parry-Romberg disease). This prospective study was conducted on 53 patients presented by Parry-Romberg disease and was corrected by facial fat grafting (FFG) enriched with platelet-rich plasma (PRP). A computerized software program was used to design a detailed map to achieve clinical symmetry with fat grafting application, as the anatomical subunits direct 3-dimensional volumetric symmetric, and compartments direct isolated recipient-specific grafting. Also, volumetric asymmetry was assessed through outlines of facial contour, projection, and proportions for both sides and comparing the mirror image of unaffected side as a template. Objective ultrasound and photogrammetric measurements showed a significant improvement in facial symmetry postoperatively compared to preoperative (P < 0.05), with no significant differences between 12 and 18months after surgery. The FACE-Q score regarding comparison before surgery and 18months after surgery showed a statistically significant improvement in all modules (P < 0.001) with overall satisfaction concerning outcome of 82.7 ± 0.8. Enriched fat grafting with platelet-rich plasma (PRP) is a good alternative to reconstruct soft tissue defects for patients with progressive hemifacial atrophy (Parry-Romberg disease) with a minimally invasive approach and low complications. It provides volumetric replacement, enhancement of skin texture, and improvement of hyperpigmentation with restoration of facial contour for an esthetic pleasing appearance. Isolated replacement in accordance with the anatomical facial subunits and fat compartments allows three-dimensional reconstruction and maximizes fat retention.

Analysis of clinical and imaging features of 6 cases of linear scleroderma en coup de sabre with central nervous system involvement in children

Objective: To summarize the clinical and imaging features of linear scleroderma en coup de saber (LSCS) with central nervous system involvement in children. Methods: The clinical data(clinical manifestations and imaging features) of 6 children diagnosed with LSCS with central nervous system involvement who were admitted to Beijing Children's Hospital Affiliated to Capital Medical University from May 2019 to November 2021 were retrospectively analyzed. Results: The 6 patients were all female, aged 6.8 (3.3, 11.0) years at the time of diagnosis, and aged 3.0 (1.7, 4.1) years at the time of discovery of facial skin lesions. Facial skin lesions appeared before neurological symptoms in 5 cases, and neurological symptoms appeared 2 months before skin lesions in 1 case. All the patients had "sword wound" skin lesions on the forehead with alopecia. Neurological manifestations included epileptic seizures in 6 cases, focal neurological defects in 5 cases, and headaches in 2 cases. The intracranial lesions were all ipsilateral to the skin lesions. The magnetic resonance imaging (MRI) of 6 cases showed abnormal signals mainly involving white matter in 1 hemisphere, and 3 cases showed local encephalomalacia. The scattered low signal was observed in 5 cases on susceptibility weighted imaging. Localized brain parenchyma or leptomeninges enhancement was seen on Gadolinium-enhanced sequences in 5 cases. Scattered foci of calcification on the affected side were seen on cranial CT in 4 cases. Skin biopsy was performed in 2 cases. Part of the lesion of the brain was removed in 1 case, and the pathological findings suggested small vasculitis, which was consistent with skin pathological changes. All patients received symptomatic treatment with antiepileptic drugs. Oral prednisone combined with methotrexate was given in 4 cases, and 1 case was given oral prednisone only. One case was presumed to be in the resting stage of the disease due to significant cerebral atrophy in half of the brain, and only antiepileptic drugs were added. The patients were followed up for 6-36 months. The skin lesions of scleroderma and alopecia did not progress in 5 cases, and hemifacial atrophy was developed in 1 case, which was considered to be combined with Parry-Romberg syndrome. The seizures were controlled in 4 cases. One case had reduced seizure frequency but left hemiplegia. One patient still had intractable epilepsy and paroxysmal headache. Conclusions: LSCS with central nervous system involvement is more common in girls, with seizures and neurological defects as the main manifestations. Intracranial lesions are mostly ipsilateral to the skin lesions. Cerebral microbleeds, calcification, and encephalomalacia foci are common, and the pathological changes in skin and intracranial lesions are consistent with small-vessel vasculitis. Prednisone combined with methotrexate treatment has shown some efficacy, but some children remain with refractory epilepsy and neurological deficit symptoms.

Syndrom Parry–Romberg: clinical case of a rare disease

The article is devoted to ParryRomberg syndrome, one of the rare diseases. Here we declare contemporary views on predisposing factors, pathogenesis and character of clinical performance. We describe the methods of differential diagnostics, the criteria of diagnostics as well as contemporary treatment methods. We also describe a case history of the disease.

Association of intracranial abnormalities with the development of epilepsy and drug-resistant epilepsy in patients with Parry-Romberg syndrome

BackgroundEpilepsy represents an essential component of Parry Romberg syndrome (PRS). This study aimed to identify clinical factors that influence the development of epilepsy and drug-resistant epilepsy (DRE) in PRS. MethodsWe retrospectively reviewed the medical records of eighty patients with PRS. Data including the age of onset for PRS, history of seizures, use and timing of immunotherapy, antiseizure medication use, and EEG and brain imaging findings were reviewed. For comparison with the patients with epilepsy (PRSe+) group, we selected 18 age and sex-matched controls from the patient without epilepsy (PRSe-) cohort using propensity score matching. ResultsEighteen (22.5%) had epilepsy: 12 were female, and the median age was 14.5 years (range = 6–48 years). Eleven patients developed DRE. The median latency between the onset of cutaneous manifestations and diagnosis and timing and use of immunotherapy was similar between the PRSe + and PRSe- groups. Intracranial abnormalities were commonly seen in the PRSe + group (16 vs. 2, p < 0.01). White matter disease and ipsilateral atrophy were common among the PRSe + group. Timing and use of immunotherapy, epileptiform discharges, and brain imaging abnormalities did not differ between those with DRE and without. ConclusionsThe presence and degree of severity of ipsilateral brain abnormalities are risk factors for the development of epilepsy in PRS but not factors in predicting drug resistance. The timing of immunotherapy did not influence the development of PRSe + or DRE. Prospective studies are needed to identify biomarkers for epilepsy and assess the role of immunotherapy on seizure outcomes in PRSe + .

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.

Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Patients and Methods: Different children aged from 1 month to 12 years were referred to our departments seeking orthopedic advice. Primarily, all received variable false diagnoses in other institutes. Two unrelated boys of one month and 12 months were falsely diagnosed as having positional plagiocephaly associated with contractures of idiopathic origin. Two unrelated boys of 14 months and 2 years were diagnosed with pseudo-hydrocephalus and non-specific syndrome, and were referred to explore their skeletal development. Two unrelated girls of 4 years old and 12 years old presented with multiple contractures were referred because of progressive scoliosis. A 4-year-old girl was referred with a false provisional diagnosis of facial diplegia. All children underwent detailed clinical, radiological and tomographic phenotypic characterizations and genetic testing, respectively. Results: Idaho syndrome (craniosynostosis associated with multiple dislocations) was the final diagnosis in the two unrelated boys with plagiocephaly and multiple contractures. Two children falsely diagnosed with pseudo-hydrocephalus and non-specific syndrome, were diagnosed with Silver–Russell syndrome (RSS). Contractural arachnodactyly Beals (CAB) was confirmed as the definitive diagnosis in the two unrelated girls with progressive scoliosis and multiple contractures. Parry–Romberg syndrome (PRS) associated with congenital lumbar kyphosis was the final diagnosis of the girl with the diagnosis of facial diplegia. Hypomethylation of ICR1 was confirmed in the RSS patients. Whole exome sequencing (WES) revealed a heterozygous mutation in the PRS patients. WES and array-CGH showed that no relevant variants or copy number variations (CNV) were identified in the CAB patients. Conclusions: On the one hand, newborn children can manifest diverse forms of abnormal craniofacial features, which are usually associated with either major or minor dysmorphic stigmata. A cleft lip/ palate is a major craniofacial malformation, and frontal bossing or a disproportionate craniofacial contour can be falsely considered as a transient plagiocephaly, which is spontaneously resolved by time. On the other hand, many physicians fall into the problem of deeming a countless number of diseases, such as contractures, as an idiopathic or non-specific syndrome. The latter stems from limited clinical experience. Therefore, failing to establish between the onset of the deformity and other inexplicit abnormal features that the patient or their immediate families or relatives carry is the final outcome. In this study, we used, for the first time, a reconstruction CT scan to further delineate the congenital disruption of the craniofacial anatomy and the other skeletal malformation complex.