Parry-Romberg syndrome: a mini review.

Parry-Romberg syndrome (PRS) is a rare disorder of uncertain etiology that is characterized by progressive atrophy of the soft and hard tissues of face, typically occurring in the first 2 decades of life. It is more commonly seen in females. The disease progresses slowly with gradual atrophy, frequently associated with neurological, ophthalmological, and other system involvement, resulting in secondary complications. The severity of deformity varies depending on the age of onset of disease. Those in whom the disease starts at an earlier age will have more severe deformity. Due to the visible facial deformity, such patients usually suffer from social and psychological trauma. Management is mainly cosmetic, which is carried out after disease progression has stopped and stabilized. This brief review describes PRS in detail and compares it with linear morphea en coup de sabre (ECDS), its close differential, which is likely to be a milder variant sharing the same spectrum of disease.

Progressive hemifacial atrophy or Parry-Romberg syndrome: A pediatric case report. / Atrofia hemifacial progresiva o síndrome de Parry-Romberg: reporte de caso pediátrico.

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.

Parry-Romberg syndrome in Kuwait. Neurological manifestations in 2 children.

Parry-Romberg syndrome is a rare disorder with progressive hemifacial atrophy of unknown etiology. We reported 2 cases of progressive hemifacial atrophy with different neurological manifestations from Kuwait. The first case was a 14-year-old boy who initially presented with recurrent transient stroke-like episodes followed by focal seizures and hemifacial atrophy. Magnetic resonance imaging showed significant white matter changes and cerebral hemiatrophy. The second case was a 7-year-old girl who presented with complex partial seizures and hemifacial atrophy, her magnetic resonance imaging scan showed minimal changes in the hemiatrophy of the temporal cerebral lobe. Both patients' disease activity was well controlled with immunosuppressive therapy and anticonvulsants. Parry-Romberg syndrome should be considered in any child with unexplained neurological symptoms.

Parry-Romberg syndrome associated with en coup de sabre in a patient from South Sudan - a rare entity from East Africa: a case report.

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.

Focal Epilepsy in a Teenager With Facial Atrophy and Hair Loss.

There is increasing evidence to demonstrate that Parry-Romberg syndrome and linear scleroderma en coup de sabre are both forms of linear scleroderma, representing localized autoimmune conditions affecting the skin, eyes, brain, and surrounding tissues. We present a case highlighting the clinical presentation of a 12-year-old boy with focal seizures and physical examination findings of facial atrophy and hair loss. This article reviews the literature related to the presentation, epidemiology, diagnosis, and treatment of Parry-Romberg syndrome and linear scleroderma en coupe de sabre with focus on the significant correlation with neurologic disease, particularly seizures.

Simulation of lipofilling reconstructive surgery using coupled Eulerian fluid and deformable solid models.

We present a method to simulate the outcome of reconstructive facial surgery based on fat-filling. Facial anatomy is complex: the fat is constrained between layers of tissues which behave as walls along the face; in addition, connective tissues that are present between these different layers also influence the fat-filling procedure. To simulate the end result, we propose a method which couples a 2.5D Eulerian fluid model for the fat and a finite element model for the soft tissues. The two models are coupled using the computation of the mechanical compliance matrix. Two contributions are presented in this paper: a solver for fluids which couples properties of solid tissues and fluid pressure, and an application of this solver to fat-filling surgery procedure simulation.

Pemphigoid gestationis in a female with progressive facial hemiatrophy: microchimerism as a speculative shared background is disputable.

The commonest source of naturally acquired microchimerism, i.e. small numbers of foreign cells within the organism, is two-way mother-fetus transplacental trafficking during pregnancy. Here, the first report on coexistence of pregnancy-associated pemphigoid gestationis (PG) and progressive facial hemiatrophy, a form of "en coup de sabre" morphea, is presented. HE histopathology (eosinophil-rich subepidermal infiltration, inverted teardrop sign), direct immunofluorescence (linear IgG1, but not IgG4, deposits along the dermal-epidermal junction) and ELISA (elevated levels of serum and blister fluid IgG autoantibodies to BP180) corroborated the PG diagnosis. Microchimerism as a speculative shared background of those two rare autoimmune diseases is disputable.

Parry-Romberg syndrome: clinical, electrophysiological and neuroimaging correlations.

Parry-Romberg syndrome (PRS) is a rare disorder, described in the nineteenth century by Caleb Parry and Moritz Romberg, characterized by acquired and slowly progressive atrophy of one side of the face. The pathogenesis of PRS is still unclear. Immune-mediated processes are thought to be a basic factor in PRS etiology, but autonomic nervous system might also be impaired. A case of PRS in a 26-year-old woman with coexisting disturbances in the lower left limb is presented. The multimodal electrophysiological studies were done, including electroencephalography, visual, brain auditory, somatosensory and trigeminal somatosensory evoked potentials, blink reflex, standard neurographic and electromyographic examinations, quantitative sensory tests and autonomic tests. Neuroimaging studies consisted of brain MR, single voxel proton MR spectroscopy, diffusion tensor imaging with fiber tractography. Based on multimodal electrophysiological and neuroimaging studies, it was concluded that the impairment in PRS is multisystemic, i.e., motor, sensory, and autonomic. A cortical origin of the symptoms is possible.

Intractable focal epilepsy contralateral to the side of facial atrophy in Parry-Romberg syndrome.

We report an unusual case of Parry-Romberg syndrome in which medically refractory focal epilepsy with ongoing epilepsia partialis continua (EPC) arose from the hemisphere contralateral to the side of facial atrophy. Unilateral cerebral involvement was confirmed by multi-modal brain imaging, as well as by electroencephalography (EEG) and magnetoencephalography (MEG). While in many cases of Parry-Romberg syndrome, the side of cerebral involvement is ipsilateral to that of the cutaneous lesion, these "discordant" exceptions imply that other yet undefined mechanisms may be responsible for the distribution of the cutaneous and cerebral pathologies.

Progressive facial hemiatrophy revisited: a role for sympathetic dysfunction.

OBJECTIVE: To report a case of progressive facial hemiatrophy with unusual features of contralateral brain atrophy and transcranial Doppler ultrasound evidence of autonomic dysfunction. DESIGN: Case report. SETTING: A teaching hospital. PATIENT: A 63-year-old man who presented with a 10-year history of progressive right-sided facial atrophy and recent facial pain. RESULTS: Brain magnetic resonance imaging revealed left frontoparietal atrophy. Transcranial Doppler ultrasound demonstrated evidence of autonomic dysfunction ipsilateral to brain atrophy. CONCLUSION: This case expands the spectrum of findings in progressive facial hemiatrophy to include contralateral brain atrophy and suggests that sympathetic dysfunction might play a pathogenic role in progressive facial hemiatrophy.

Severe bilateral pyramidal tract involvement in a patient with Parry-Romberg syndrome.

Parry-Romberg syndrome (PRS) is a rare clinical entity of unknown etiology, generally characterized by a slow and progressive atrophy that affects 1 side of the face. A variety of neurologic abnormalities have been shown to coexist with PRS. However, few studies regarding pyramidal tract involvement in this disorder have been reported. We report a unique case, in which the patient presented with bilateral pyramidal tract insult and an unusual sequence of disease onset and progression. This case suggests a rarer variant of PRS, and the neurologic findings indicate that the underlying essential neural degeneration may contribute to the processing of pyramidal tract insult or this syndrome.

[Association of Parry-Romberg syndrome and paroxymal kinesigenic dyskinesia]. / Association syndrome de Parry-Romberg et dyskinésie paroxystique kinésigénique.

INTRODUCTION: Parry-Romberg syndrome is a rare entity of unknown etiology, characterized by hemifacial or hemibody atrophy affecting subcutaneous tissues. Its main clinical manifestations are neurological, ocular and dermatological. Paroxysmal kinesigenic dyskinesia (PKD) is characterized by brief episodes of choreic/dystonic movements triggered by sudden movements and improved by antiepileptic drugs particularly carbamazepine. It can be sporadic or familial with an autosomal dominant inheritance. Little is known about the pathophysiology of PKD, although a channelopathy is thought likely. The association of these two diseases is rare. CASE REPORT: Over three years, a 42-year-old patient progressively developed left hemiatrophy. Since age 14, he presented paroxysmal dystonic disorders of the limbs triggered by sudden movements and controlled by carbamazepine. The diagnosis of PKD associated with Parry-Romberg syndrome was established. Investigations revealed immunologic and diffuse electrophysiological abnormalities (EEG and EMG). CONCLUSION: PKD associated with Parry-Romberg syndrome is very rare but does not appear to be fortuitous. It suggests a common mechanism via an underlying channelopathy or dysimmune disorder.

Eye movement involvement in Parry-Romberg Syndrome: a clinicopathologic case report.

We report the case of a 38-year-old woman who developed a progressive bilateral disease in which the eye motility disorder-diplopia-is the outstanding feature over a period of 12 years. The muscle biopsy of the medial rectus muscle did not show any trace of striated muscle. To the best of our knowledge, this is the first pathological report in an affected extraocular muscle of a patient with Parry-Romberg syndrome (PRS). Previous rare reports of diplopia in PRS have been attributed to enophthalmos, progressive atrophy of the orbit, ocular motor nerve dysfunction, or mechanical restrictions.

Hemiparkinsonism-hemiatrophy syndrome.

OBJECTIVE: To characterize the clinical and radiologic features of hemiparkinsonism-hemiatrophy syndrome (HPHA). METHODS: Medical records of patients with evidence of unilateral parkinsonism and ipsilateral body atrophy, evaluated at the Baylor College of Medicine Movement Disorders Clinic, were reviewed. RESULTS: The mean age at onset of the 30 patients who satisfied the criteria was 44.2 (15 to 63) years with a mean duration of symptoms for 9.7 (2 to 20) years. Half of all patients had dystonia at onset and dystonia was present in 21 (70%) patients during the course of the syndrome. Eleven (37%) also had scoliosis. Brain asymmetry on imaging studies was noted in 9 (30%) patients. Response to levodopa was rated as good in 18, moderate in 6, and poor in 6. Nine of 19 (47%) patients in whom birth history was available had difficult birth or had severe febrile illness in the first few months of life. Overall 10 (33%) patients had difficulty in walking during early childhood. CONCLUSION: Although the clinical features of hemiparkinsonism-hemiatrophy syndrome are variable, suggesting a heterogeneous pathogenesis, perinatal and early childhood cerebral injury appears to play an important role in about half of the cases.

Influence of unilateral masseter muscle atrophy on craniofacial morphology in growing rabbits.

PURPOSE: The purpose of the study was to evaluate whether the induction of unilateral masticatory muscle dysfunction can alter the skeletal growth patterns. MATERIALS AND METHODS: Twenty-one white male New Zealand rabbits (4 weeks old) were divided into 3 groups of 7 subjects: group 1 served as the control to study normal craniofacial growth. In groups 2 and 3, rabbits were injected with 5 units and 15 units of Botulinum toxin A (BTXA) into the right masseter muscle, respectively. The effect of a neuromuscular blockade of masseteric activity on craniofacial growth was evaluated with 3 samples of serial computed tomography (CT) scans with a slice thickness of 0.625 mm, taken at 4 weeks (base line), 8 weeks (endpoint of prepubertal craniofacial growth), and 24 weeks (after pubertal growth). RESULTS: The ipsilateral mandibular ramus height, zygomatic arch length, and masseteric length did not develop as much as those of the contralateral side after pubertal growth. At age 24 weeks, the masseter muscle volume asymmetry index reached -13.8% (group 2), -18.4% (group 3), and -1.6% for the control group. The ipsilateral side of the hemimandible showed less bone volume after 8 weeks but it showed partially recovered symmetry at 24 weeks. The maxillomandibular incisor midline and transverse molar discrepancies were not evident in any of the groups. CONCLUSIONS: The BTXA injection can be an effective method in inducing site-specific muscular hypofunctions so that masticatory muscle-craniofacial bone interaction can be investigated efficiently. The result showed that the unilateral atrophy of the masseter muscle in the growing subjects influenced the morphology of the local skeletal sites. This did not, however, result ultimately in mandibular midline asymmetry or right-left asymmetry in hemimandibular volume after growth. The results imply that alterations in specific masticatory muscle function can be compensated by the growth of other structural components.

Parry Romberg syndrome and linear scleroderma in coup de sabre mimicking Rasmussen encephalitis.

We present one patient with Parry Romberg syndrome and another with linear scleroderma in coup de sabre, with focal neurologic deficits and intractable seizures arising from the hemisphere ipsilateral to the cutaneous lesion. Brain MRI showed progressive hemispheric atrophy. Pathology after functional hemispherectomy showed chronic inflammatory features suggestive of Rasmussen encephalitis.