Epilepsy in Parry-Romberg syndrome and linear scleroderma en coup de sabre: Case series and systematic review including 140 patients.

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.

Mechanical Supplementation With the Stromal Vascular Fraction Yields Improved Volume Retention in Facial Lipotransfer: A 1-Year Comparative Study.

Background: Unpredictable volume maintenance in the long term is a major limitation of autologous fat grafting. Objectives: The authors compared results of autologous lipotransfer to the face with or without enrichment of fat with the stromal vascular fraction (SVF). Methods: Thirty patients with asymmetric depletion of facial volume were included in a prospective study. Patients were randomly assigned to undergo a single session of autologous fat transfer with washed adipose tissue (control group) or with washed adipose tissue combined with the pellet of centrifuged lipoaspirate, which contained the SVF (enriched group). Patients were evaluated clinically and from photographs. A subset of 5 patients in each group underwent computed tomography (CT) preoperatively and 12-months postoperatively for quantitative assessment of graft retention. Washed and fractionated lipoaspirates were evaluated histochemically and with flow cytometry to determine relative abundances of viable cells. Results: No major complications occurred. CT findings 12 months postoperatively indicated that patients who received SVF-enriched fat had significantly better volume retention (9.6% volume loss vs 24% in the control group; P = 0.013). Independent surgeons more frequently rated long-term aesthetic outcomes as "excellent" for patients in the enriched group (82.5% vs 47.6% for control group). Laboratory results indicated that each pellet contained approximately 16,000 intact adipose-derived stem cells. Conclusions: Lipotransfer with SVF-enriched adipose tissue is safe and associated with improved volume retention, compared with transplantation of unenriched fat. The SVF can be dissociated from lipoaspirate by centrifugation to yield a large quantity of viable regenerative cells, without enzymatic digestion. Level of Evidence: 2.

A review of Parry-Romberg syndrome.

Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare disorder characterized by unilateral facial atrophy affecting the skin, subcutaneous tissue, muscles, and sometimes extending to the osteocartilaginous structures. It has been associated with various systemic manifestations, particularly neurologic, ophthalmologic and maxillofacial. In this article, we review Parry-Romberg syndrome with its associated findings (neurologic, ophthalmologic, cardiac, rheumatologic, endocrinologic, infectious, orthodontic and maxillofacial, and autoimmune), underlying cause, differential diagnoses (en coup de sabre, scleroderma, and Rasmussen encephalitis), and therapeutic options.

Orthopedic and orthodontic treatment of Parry-Romberg syndrome.

Parry-Romberg syndrome (PRS) is a degenerative disease characterized by progressive hemifacial atrophy of soft and hard tissues. A 10-year-old girl who had been treated for linear scleroderma at the dermatologic department since the age of 9 years visited the orthodontic department. The frontal facial photograph showed mild facial asymmetry. On the left side, mild atrophy of soft tissue, mild enophthalmos, cheek depression, and dry skin with dark pigmentation were observed. The radiograph showed hypoplasia of both the maxilla and mandible on the left side. Intraorally, she was in the mixed dentition with the dental crowding. This case report describes the treatment of a patient with PRS for 7 years. To minimize the effect of progressive atrophy on facial growth, a functional appliance was used. The facial photographs and radiographic records were periodically taken to analyze the progression of PRS. Although it is impossible to prevent the progress of facial asymmetry, it appears to be possible to limit the atrophic effect on the mandible by stimulating the mandibular growth. After stabilization of PRS, orthodontic treatment by fixed appliance was performed. In addition, autologous fat graft was performed 3 times at 6-month intervals. After the treatment, the patient had a confident smile, and facial asymmetry was improved.

Association of aesthetic and orthodontic treatment in Parry-Romberg syndrome.

Parry-Romberg syndrome (PRS) is an uncommon degenerative condition characterized by a slow, progressive, and, generally, unilateral atrophy of facial tissues, including muscles, bones and skin. Ophthalmological and neurological manifestations have frequently been observed and few oral changes have been reported. This article reports a case of PRS in a 22-year-old woman, exhibiting facial asymmetry, hypoplasia of the right side of the face, areas of skin hyperpigmentation, and oral alterations, involving the mandible and teeth. These clinical and radiological findings led to the diagnosis of PRS. In an attempt to improve the patient's facial aesthetic and the dental functions, oral pentoxifylline, orthodontic rehabilitation, and subcutaneous injections of polymethylmethacrylate microspheres were used as part of the treatment for the facial atrophy. Together, these approaches accounted for a minimal invasive treatment with long term satisfactory results.

[Facial asymmetry: the benefits of cone beam computerized tomography]. / Asymmetrie van het aangezicht: de meer- waarde van cone beam-computertomografie.

Treatment planning in facial asymmetry is complex and requires precise diagnosis and planning. In the case of a fourteen year old boy with Parry Romberg syndrome, cone beam computerized tomography scanning was used to analyse the asymmetry. Linear, angular and volumetric measurements helped to make clear the extent of the asymmetry, giving the orthodontist and surgeon as well as the patient insight into the possibilities and expectations of treatment. Also the mirror image of the unaffected side superimposed on the affected side was very helpful in this respect. The latter may offer new possibilities for fabrication of individualized alloplastic onlays to further correct asymmetry in the future.

Volumetric correction using poly-L-lactic acid in facial asymmetry: Parry Romberg syndrome and scleroderma.

BACKGROUND: Linear scleroderma and Parry-Romberg Syndrome (PRS) are chronic diseases that can affect the face, with patients therefore requiring facial volumetric correction. OBJECTIVE: We have used poly-L-lactic acid (PLLA) to treat facial asymmetry in patients with linear scleroderma and PRS, because it can restore volumetric defects and has been proven to be safe. MATERIALS AND METHODS: Since February 2004, we have treated six patients: four with linear scleroderma and two with PRS. The patients were treated every 4 weeks for three to five sessions. Photographic documentation was taken at the beginning and at the completion of every treatment and 12 and 18 months later. RESULTS: In patients with PRS and linear scleroderma of the face, we noticed good restoration of facial volume and symmetry and improvement in skin quality. The results were found to be permanent at 18 months in patients with PRS and 12 months in patients with linear scleroderma. CONCLUSIONS: PLLA has been shown to be a useful material for the correction of small volumetric defects caused by linear scleroderma and PRS. The authors have indicated no significant interest with commercial supporters.

Minimally invasive combined treatment for Parry-Romberg syndrome.

BACKGROUND: Facial hemiatrophy, a typical manifestation of Parry-Romberg syndrome, produces massive face asymmetry, causing marked aesthetic damage and severe psychological discomfort, with repercussions to the psychophysical status of the patient. This article presents a successful combined treatment that results in resolution of symptoms and patient satisfaction. METHODS: The authors proposed a clinic-therapeutic management comprising a customized program of bio-lipo-intense pulsed light (IPL) remodeling. RESULTS: In 2007, at a 1-year follow-up visit, the patient presented a stable result. She is satisfied with the augmentation treatment, the new volume and contours of the face, and the resolution of the sclerosis and ochrodermia. CONCLUSION: The authors have succeeded with a minimally invasive reconstructive technique for Romberg disease using a customized therapeutic program of poly-L-lactic acid, lipofilling, and IPL therapy. They report a case of good healing without recurrences and complications, with a good cosmetic result, and with satisfaction of the patient.

Injectable hyaluronic acid for the correction of HIV-associated facial lipoatrophy.

OBJECTIVE: To evaluate the use of Perlane, an injectable form of hyaluronic acid, for the correction of HIV-associated facial lipoatrophy. STUDY DESIGN AND SETTING: A prospective, observational study in a consecutive series of 18 HIV-positive males with facial lipoatrophy injected with Perlane. Fourteen patients were available for final analysis. RESULTS: Mean follow-up time was 12 months. Based on photographic analysis, there was a significant early improvement (P = 0.0035). This difference remained significant after 12 months (P = 0.04666); no significant difference in grade was shown between 1 and 12 months (P = 0.3693). Office assessments of improvement showed an early marked improvement in 85.8% of patients, and 78.6% of subjects demonstrated at least moderate improvement at 12 months. CONCLUSION/SIGNIFICANCE: Patient satisfaction was high, with only minor side effects and no late complications. Our findings support Perlane to be a feasible option for the provisional correction of mild to moderate facial lipoatrophy.

Progressive Hemifacial Atrophy--case report.

Progressive Hemifacial Atrophy, also known as Parry-Romberg Syndrome, is an uncommon degenerative and poorly understood condition. It is characterized by a slow and progressive atrophy affecting one side of the face. The incidence and the cause of this alteration is unknown. A cerebral disturbance of fat metabolism has been proposed as a primary cause. This can be the result of a trophic malformation of Cervical Sympathetic Nervous System. Possible factors that are involved in the pathogenesis include trauma, viral infections, heredity, endocrine disturbances and auto-immunity, among others. The most common complications that appear in association to this health disorder are: trigeminal neuritis, facial paresthesia, severe headache and epilepsy, being this last one the most frequent complication of the Central Nervous System. Characteristically, the atrophy progresses slowly for several years and, soon after, it become stable. Now, plastic surgery with graft of autogenous fat can be performed, after stabilization of the disease, to correct the deformity. Orthodontic treatment can help in the correction of any associated malformation. The objective of this work is, through the presentation of a clinical case, to accomplish a literature review concerning general characteristics, etiology, physiopathology, differential diagnosis and treatment of progressive hemifacial atrophy.

Ocular manifestations and treatment of hemifacial atrophy.

Enophthalmos, flattening of the maxilla that may progress to inferior orbital rim and floor defects, eyelid atrophy, and slight relative hypotony occurred in patients with hemifacial atrophy. Less common manifestations included pupillary and iris abnormalities, vertical muscle imbalances, and retinal changes. The prognosis for vision was good. Fluid silicone injection was the major modality in treatment and the results were generally excellent.

Free-fat injections for the correction of hemifacial atrophy.

Three adult patients with long-standing hemifacial atrophy were treated with repeated free-fat injections at 4- to 8-week intervals. The longest follow-up study to date is 18 months, and following the expected postoperative resorption, no further loss of bulk of injected fat has been observed. On palpation, the feel of the fat is normal, and facial expression is also good. The relative ease of this procedure, which does not entail any scarring, appears to justify more widespread use of free-fat injections to restore facial soft-tissue depressions.

Bilateral Parry-Romberg syndrome associated with retinal vasculitis.

PURPOSE: To describe an unusual case of bilateral progressive facial hemiatrophy (Parry-Romberg syndrome (PRS)) associated with retinal vasculitis. METHODS: In a 37-year-old man with bilateral PRS, retinal vasculitis of the right eye was evident on fundus examination and fluorescein angiography. Right temporalis muscle biopsy and needle electromyography of the masseter muscles were performed. The patient underwent immunosuppressive therapy and retinal laser photocoagulation. RESULTS: Biopsy specimens showed large fibrosis with focal lymphohistiocytic infiltration of the muscle fibers. Electromyographic findings are consistent with a primary muscle disease. Visual acuity improved from 20/25 to 20/20 in the right eye with a follow-up of one year. CONCLUSIONS: The evidence of retinal vasculitis and the histologic findings of facial changes observed in this PRS case could support the pathogenetic model of a chronic inflammatory process as a plausible explanation for progressive facial hemiatrophy.

Progressive hemifacial atrophy: ten-year observation of a case.

The authors describe the case of a 14-year-old girl who experienced progressive hemifacial atrophy at the age of three-and-a-half years. The patient's early age at appearance of the condition resulted not only in atrophy of skin, subcutaneous tissue, and muscles, but also in very severe deformation of the right side of the face due to disorders in growth of cartilaginous and osseous tissue. Changes in her brain case and craniofacial skeleton included enophthalmos, underdevelopment of the eyelids, nose, hard plate, and dental process of the jaw including the premolar teeth, and a lack of the second molar. These changes caused an irregular line of bite. The differential diagnosis excluded hemifacial microsomy and sclerodermal hemifacial atrophy.

[A case of progressive hemifacial atrophy with Pourfour de Petit syndrome which was successfully treated by stellate ganglion block].

We herein report a 31-year-old woman with progressive hemifacial atrophy. The atrophy at her left face began about ten years ago. She had been in a traffic accident one year before the onset of her facial atrophy. Neurological examination revealed anisocoria (right < left) and retraction of the left eyelid, which thus suggested the presence of Pourfour de Petit syndrome. The pupillary reaction to both cocaine and tyramine were reduced bilaterally. Thermography of the face showed slightly lower surface temperature on the left side. A facial thermal sweat test was normal. These findings indicated local hyperactivity of the sympathetic nervous system at the Th 1-Th2 levels on the left side. A left stellate ganglion block effectively induced an accumulation of the subcutaneus tissue of her face on the left side. This is a very rare case in which local sympathetic hyperactivity is present and has caused progressive hemifacial atrophy.

[Stellate ganglion block therapy against progressive facial hemiatrophy].

A typical case with progressive facial hemiatrophy was treated with a new therapeutic trial, stellate ganglion block. The present case, a Japanese girl, suffered from progressive atrophy involving the soft tissue of the left buccal region, with onset at the age of 6 following a minor local trauma. She visited our hospital at the age of 9, and as soon as the diagnosis was made, left stellate ganglion block was initiated. Local injection of lidocaine was performed 53 times over the period of 1 year and 4 months. During this period of therapy and the subsequent follow-up period of 4 years, the state of atrophy remained unchanged and nonprogressive. Stellate ganglion block as a therapy against progressive facial hemiatrophy was considered to be worth further evaluation, although it was impossible to judge, based solely on our experience, whether the arrest of progression was attributable to the therapy. The rationale of this therapy was also discussed. It was based upon the assumption that atrophy may result from irritation of the cervical sympathetic nerve, one of the most popular theories regarding the pathomechanism of progressive facial hemiatrophy.

[Facial hemiatrophy (Parry-Romberg syndrome)]. / Gemiatrofiia litsa (sindrom Parri--Romberga).

Three cases of a rare and little studied disease which is characterized by progressive atrophy of the tissues of one half of the face. The muscular layer gets injured to a less extent. Dysembryogenesis underlies the disease while the hypothalamic formations are primarily damaged. The animal nervous system does not experience gross changes. The cases described may be referred to the idiopathic form of the syndrome. In one of the cases, the process progressed to the transition to the hand and body, in the other two ones, the process was combined with vegetovascular dystonia. All the patients were examined for the status of the vegetative nervous system according to the evoked cutaneous sympathetic potentials, the time of the pupillary cycle and the cardiovascular tests. The data obtained failed to reveal any lesions of the peripheral vegetative nervous system, which is likely to point to the interest of the suprasegmental vegetative structures.