448
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Progressive hemifacial atrophy: a review

      research-article

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Background

          Progressive Hemifacial Atrophy (PHA) is an acquired, typically unilateral, facial distortion with unknown etiology. The true incidence of this disorder has not been reported, but it is often regarded as a subtype of localized scleroderma. Historically, a debate existed whether PHA is a form of linear scleroderma, called morphea en coup de sabre (ECDS), or whether these conditions are inherently different processes or appear on a spectrum (; Adv Exp Med Biol 455:101–4, 1999; J Eur Acad Dermatol Venereol 19:403–4, 2005). Currently, it is generally accepted that both diseases exist on a spectrum of localized scleroderma and often coexist.

          The pathogenesis of PHA has not been delineated, but trauma, autoimmunity, infection, and autonomic dysregulation have all been suggested. The majority of patients have initial manifestations in the first two decades of life; however, late presentations in 6th and 7th decades are also described [J Am Acad Dermatol 56:257–63, 2007; J Postgrad Med 51:135–6, 2005; Neurology 61:674–6, 2003]. The typical course of PHA is slow progression over 2-20 years and eventually reaching quiescence.

          Systemic associations of PHA are protean, but neurological manifestations of seizures and headaches are common [J Am Acad Dermatol 56:257–63, 2007; Neurology 48:1013–8, 1997; Semin Arthritis Rheum 43:335–47, 2013]. As in many rare diseases, standard guidelines for imaging, treatment, and follow-up are not defined.

          Methods

          This review is based on a literature search using PubMed including original articles, reviews, cases and clinical guidelines. The search terms were “idiopathic hemifacial atrophy”, “Parry-Romberg syndrome”, “Romberg’s syndrome”, “progressive hemifacial atrophy”, “progressive facial hemiatrophy”, “juvenile localized scleroderma”, “linear scleroderma”, and “morphea en coup de sabre”. The goal of this review is to summarize clinical findings, theories of pathogenesis, diagnosis, clinical course, and proposed treatments of progressive hemifacial atrophy using a detailed review of literature.

          Inclusion- and exclusion criteria

          Review articles were used to identify primary papers of interest while retrospective cohort studies, case series, case reports, and treatment analyses in the English language literature or available translations of international literature were included.

          Related collections

          Most cited references149

          • Record: found
          • Abstract: found
          • Article: not found

          Neurologic involvement in scleroderma: a systematic review.

          To perform a systematic review of neurologic involvement in Systemic sclerosis (SSc) and Localized Scleroderma (LS), describing clinical features, neuroimaging, and treatment. We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, cognitive impairment, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA). Patients with other connective tissue disease knowingly responsible for nervous system involvement were excluded from the analyses. A total of 182 case reports/studies addressing SSc and 50 referring to LS were identified. SSc patients totalized 9506, while data on 224 LS patients were available. In LS, seizures (41.58%) and headache (18.81%) predominated. Nonetheless, descriptions of varied cranial nerve involvement and hemiparesis were made. Central nervous system involvement in SSc was characterized by headache (23.73%), seizures (13.56%) and cognitive impairment (8.47%). Depression and anxiety were frequently observed (73.15% and 23.95%, respectively). Myopathy (51.8%), trigeminal neuropathy (16.52%), peripheral sensorimotor polyneuropathy (14.25%), and carpal tunnel syndrome (6.56%) were the most frequent peripheral nervous system involvement in SSc. Autonomic neuropathy involving cardiovascular and gastrointestinal systems was regularly described. Treatment of nervous system involvement, on the other hand, varied in a case-to-case basis. However, corticosteroids and cyclophosphamide were usually prescribed in severe cases. Previously considered a rare event, nervous system involvement in scleroderma has been increasingly recognized. Seizures and headache are the most reported features in LS en coup de sabre, while peripheral and autonomic nervous systems involvement predominate in SSc. Moreover, recently, reports have frequently documented white matter lesions in asymptomatic SSc patients, suggesting smaller branches and perforating arteries involvement. Copyright © 2013 Elsevier Inc. All rights reserved.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            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. Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Classification of morphea (localized scleroderma)

              To classify and describe morphea (localized scleroderma). A review of morphea and its subtypes is presented. The current classification of morphea is incomplete and confusing. As knowledge of the spectrum of disease continues to evolve, the controversy and confusing nature of its multiple subtypes present a challenge for the physician who encounters a patient with this condition. Thus, we propose that morphea be classified into the following five groups: plaque, generalized, bullous, linear, and deep. This classification, based on clinical morphologic findings, will simplify the diagnostic and therapeutic approach. Morphea represents a wide variety of clinical entities that seen to be on the opposite end of the scleroderma spectrum from systemic sclerosis. The cutaneous lesions eventually evolve from a sclerotic stage to a nonindurated stage, and residual hypopigmentation or hyperpigmentation follows. The histologic pattern in patients with morphea is similar to that in patients with progressive systemic sclerosis. Although treatment is nonstandardized, hydroxychloroquine sulfate may be beneficial.
                Bookmark

                Author and article information

                Contributors
                Tolkachjov.stanislav@mayo.edu
                patel.nirav@mayo.edu
                Tollefson.Megha@mayo.edu
                Journal
                Orphanet J Rare Dis
                Orphanet J Rare Dis
                Orphanet Journal of Rare Diseases
                BioMed Central (London )
                1750-1172
                1 April 2015
                1 April 2015
                2015
                : 10
                : 39
                Affiliations
                [ ]Mayo Clinic, Department of Dermatology, 200 First Street SW, Rochester, MN 55905 USA
                [ ]Mayo Clinic, 13400 E. Shea Blvd, Scottsdale, AZ 85259 USA
                Article
                250
                10.1186/s13023-015-0250-9
                4391548
                25881068
                18561fb5-ccec-4467-8b98-48cc227f93d8
                © Tolkachjov et al.; licensee BioMed Central. 2015

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 25 November 2014
                : 9 March 2015
                Categories
                Review
                Custom metadata
                © The Author(s) 2015

                Infectious disease & Microbiology
                progressive hemifacial atrophy,facial atrophy,facial hemiatrophy,parry-romberg syndrome,romberg’s syndrome,morphea,scleroderma

                Comments

                Comment on this article

                scite_
                121
                5
                187
                1
                Smart Citations
                121
                5
                187
                1
                Citing PublicationsSupportingMentioningContrasting
                View Citations

                See how this article has been cited at scite.ai

                scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.

                Similar content306

                Cited by33

                Most referenced authors1,121