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Acta Dermatovenerologica Alpina,... Dec 2020Parry-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... (Review)
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.
Topics: Disease Progression; Facial Hemiatrophy; Humans; Scleroderma, Localized
PubMed: 33348939
DOI: No ID Found -
Actas Dermo-sifiliograficas Oct 2013Morphea or localized scleroderma is a distinctive inflammatory disease that leads to sclerosis of the skin and subcutaneous tissues. It comprises a number of subtypes... (Review)
Review
Morphea or localized scleroderma is a distinctive inflammatory disease that leads to sclerosis of the skin and subcutaneous tissues. It comprises a number of subtypes differentiated according to their clinical presentation and the structure of the skin and underlying tissues involved in the fibrotic process. However, classification is difficult because the boundaries between the different types of morphea are blurred and different entities frequently overlap. The main subtypes are plaque morphea, linear scleroderma, generalized morphea, and pansclerotic morphea. With certain exceptions, the disorder does not have serious systemic repercussions, but it can cause considerable morbidity. In the case of lesions affecting the head, neurological and ocular complications may occur. There is no really effective and universal treatment so it is important to make a correct assessment of the extent and severity of the disease before deciding on a treatment approach.
Topics: Algorithms; Aminoquinolines; Clinical Trials as Topic; Eosinophilia; Fasciitis; Glucocorticoids; Humans; Imiquimod; Immunosuppressive Agents; Methotrexate; Photochemotherapy; Physical Therapy Modalities; Recurrence; Scleroderma, Localized; Severity of Illness Index
PubMed: 23948159
DOI: 10.1016/j.adengl.2012.10.012 -
Dermatology Online Journal Dec 2013We report the case of a 44-year-old woman with a one-year history of en coup de sabre morphea and progressive hemifacial atrophy with ipsilateral hemifacial neuralgia,...
We report the case of a 44-year-old woman with a one-year history of en coup de sabre morphea and progressive hemifacial atrophy with ipsilateral hemifacial neuralgia, migraine, and contralateral neurologic abnormalities. While rare, Parry-Romberg syndrome typically presents in the first or second decade of life; this patient's case is unusual in that the onset of her disease is demonstrated at age 43. Common clinical features, laboratory findings, and pathogenetic theories are discussed.
Topics: Adult; Exophthalmos; Facial Hemiatrophy; Facial Neuralgia; Facial Paralysis; Female; Humans
PubMed: 24365008
DOI: No ID Found -
Orphanet Journal of Rare Diseases Apr 2015Progressive Hemifacial Atrophy (PHA) is an acquired, typically unilateral, facial distortion with unknown etiology. The true incidence of this disorder has not been... (Review)
Review
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.
Topics: Facial Hemiatrophy; Humans; Scleroderma, Localized
PubMed: 25881068
DOI: 10.1186/s13023-015-0250-9 -
Dental Research Journal Jan 2013Progressive hemifacial atrophy, also known as Parry-Romberg Syndrome, is an uncommon degenerative and poorly understood condition. It is characterized by a slow and...
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 but self-limited atrophy affecting one side of the face. The incidence and the cause of this alteration are unknown. A cerebral disturbance of fat metabolism has been proposed as a primary cause. Possible factors that are involved in the pathogenesis include trauma, viral infections, heredity, endocrine disturbances and auto-immunity. The most common complications that appear in association to this disorder are: trigeminal neuralgia, facial paresthesia, severe headache and epilepsy. Characteristically, the atrophy progresses slowly for several years and, it becomes stable. The objective of this work is, through the presentation of a clinical case, to accomplish a literature review concerning general characteristics, etiology, physiopathology and treatment of progressive hemifacial atrophy.
PubMed: 23878573
DOI: 10.4103/1735-3327.111810 -
Journal of Dermatological Case Reports Nov 2010Parry-Romberg syndrome (PRS) or idiopathic hemifacial atrophy is a rare neurocutaneous syndrome. It is characterized by slowly progressive atrophy, located on one side...
BACKGROUND
Parry-Romberg syndrome (PRS) or idiopathic hemifacial atrophy is a rare neurocutaneous syndrome. It is characterized by slowly progressive atrophy, located on one side of the face, primarily involving the skin, fat and connective tissue. PRS seems to overlap with "en coupe de sabre" morphea.
MAIN OBSERVATIONS
We present a case of hemifacial atrophy in a 14-year-old boy treated with topical calcipotriol-betamethasone ointment. The diagnosis of PRS was established mainly based on the clinical findings and histological picture. The time to diagnosis was almost 9 years, similar to the mean time reported in the literature.
CONCLUSIONS
Understanding the pathogenesis and stopping disease progression is important as it can cause severe disfigurement and has neurological and psychiatric complications. Not much is known about the efficacy of agents used in the treatment of this syndrome making treatment decision very difficult. Possible complications, pathophysiology and therapeutic options are being discussed.
PubMed: 21886745
DOI: 10.3315/jdcr.2010.1049 -
Frontiers in Medicine 2017Similar clinical and histhopathological features in progressive hemifacial atrophy and linear scleroderma en coup de sabre are well known. Trauma may predispose to the... (Review)
Review
Similar clinical and histhopathological features in progressive hemifacial atrophy and linear scleroderma en coup de sabre are well known. Trauma may predispose to the development of both diseases. The lack of association with anti-Borrelia antibodies was shown in both cases as well. The otolaryngological and endocrine disorders may be associated findings in both diseases. However, there are certain differences in neurological and ophthalmological changes in the diseases.
PubMed: 29445726
DOI: 10.3389/fmed.2017.00258 -
Clinical Neurophysiology Practice 2021Hemifacial atrophy (HFA) is a rare disorder characterized by progressive unilateral wasting facial soft tissue, muscle, and/or bone. Trigeminal nerve abnormalities may... (Review)
Review
OBJECTIVE
Hemifacial atrophy (HFA) is a rare disorder characterized by progressive unilateral wasting facial soft tissue, muscle, and/or bone. Trigeminal nerve abnormalities may contribute to or result from disease pathophysiology. We aimed to gain further insights into the role of trigeminal pathophysiology along the HFA severity spectrum.
METHODS
A systematic literature review was performed according to PRISMA standards. Retrospective cases of HFA from the literature and Mayo Clinic EMG database were pooled for descriptive and semi-quantitative analysis.
RESULTS
Overall, 13 total HFA patients were identified through literature and database reviews. Trigeminal nerve testing was abnormal in 9/13 (69%), exclusively in moderate-severe cases. Abnormalities suggested a peripheral (7/9, 78%) or mixed central/peripheral (2/9, 22%) localization. Trigeminal nerve abnormalities were not identified in any of the 4 cases with mild disease severity.
CONCLUSION
Moderate to severe cases of HFA were associated with electrophysiological trigeminal abnormalities. No abnormalities were seen in mild cases of HFA.
SIGNIFICANCE
Trigeminal nerve electrophysiology may serve as a biomarker of moderate-severe disease progression, likely reflecting the consequences of progressive soft tissue atrophy.
PubMed: 33615047
DOI: 10.1016/j.cnp.2020.12.003 -
AJNR. American Journal of Neuroradiology Jun 2022Parry-Romberg syndrome is a rare disorder characterized by progressive hemifacial atrophy. Concomitant brain abnormalities have been reported, frequently resulting in...
BACKGROUND AND PURPOSE
Parry-Romberg syndrome is a rare disorder characterized by progressive hemifacial atrophy. Concomitant brain abnormalities have been reported, frequently resulting in epilepsy, but the frequency and spectrum of brain involvement are not well-established. This study aimed to characterize brain abnormalities in Parry-Romberg syndrome and their association with epilepsy.
MATERIALS AND METHODS
This is a single-center, retrospective review of patients with a clinical diagnosis of Parry-Romberg syndrome and brain MR imaging. The degree of unilateral hemispheric atrophy, white matter disease, microhemorrhage, and leptomeningeal enhancement was graded as none, mild, moderate, or severe. Other abnormalities were qualitatively reported. Findings were considered potentially Parry-Romberg syndrome-related when occurring asymmetrically on the side affected by Parry-Romberg syndrome.
RESULTS
Of 80 patients, 48 (60%) had brain abnormalities identified on MR imaging, with 26 (32%) having abnormalities localized to the side of the hemifacial atrophy. Sixteen (20%) had epilepsy. MR imaging brain abnormalities were more common in the epilepsy group (100% versus 48%, < .001) and were more frequently present ipsilateral to the hemifacial atrophy in patients with epilepsy (81% versus 20%, < .001). Asymmetric white matter disease was the predominant finding in patients with (88%) and without (23%) epilepsy. White matter disease and hemispheric atrophy had a higher frequency and severity in patients with epilepsy ( < .001). Microhemorrhage was also more frequent in the epilepsy group ( = .015).
CONCLUSIONS
Ipsilateral MR imaging brain abnormalities are common in patients with Parry-Romberg syndrome, with a higher frequency and greater severity in those with epilepsy. The most common findings in both groups are white matter disease and hemispheric atrophy, both presenting with greater severity in patients with epilepsy.
Topics: Atrophy; Brain; Epilepsy; Facial Hemiatrophy; Humans; Leukoencephalopathies; Nervous System Malformations
PubMed: 35672084
DOI: 10.3174/ajnr.A7517