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The Medical Clinics of North America Sep 1989Localized scleroderma has no recognized internal organ involvement. It may rarely coexist with a systemic connective tissue disease, but is not thought to progress to... (Review)
Review
Localized scleroderma has no recognized internal organ involvement. It may rarely coexist with a systemic connective tissue disease, but is not thought to progress to systemic sclerosis. Although never fatal, localized scleroderma may cause considerable disability from joint contractures and subcutaneous atrophy. Facial lesions are particularly disfiguring and may be accompanied by hemiatrophy. Serum auto-antibodies are common but do not imply systemic disease. The presence of ANAs or antibodies to ssDNA correlates directly with more extensive and prolonged disease. Blood eosinophilia may be striking, and its presence correlates with active disease. Patients with elevated serum IgG appear to be at a greater risk for the subsequent development of contractures. These laboratory abnormalities are useful in determining prognosis and during follow-up. No accepted and effective treatment exists. Physical therapy should be instituted immediately in all patients at risk for contractures. Systemic corticosteroids, used early in patients with active and widespread involvement, can be expected to improve the inflammatory phase. A variety of systemic agents have been reported to be helpful, but no controlled studies exist on their effectiveness.
Topics: Diagnosis, Differential; Humans; Scleroderma, Localized
PubMed: 2671537
DOI: 10.1016/s0025-7125(16)30624-1 -
Postepy Dermatologii I Alergologii Oct 2023Morphea en coup de sabre and progressive hemifacial atrophy are extremely rare connective tissue disorders causing facial deformity. In extreme cases, morphological... (Review)
Review
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.
PubMed: 38028421
DOI: 10.5114/ada.2023.131865 -
Asian Journal of Surgery Feb 2024Progressive hemifacial atrophy (PHA) is a nonnegligible disease, and its treatment currently lacks consensus. We aim to conduct an analysis of PHA patients to summarize...
INTRODUCTION
Progressive hemifacial atrophy (PHA) is a nonnegligible disease, and its treatment currently lacks consensus. We aim to conduct an analysis of PHA patients to summarize the postoperative effect. Moreover, we introduced the free serratus anterior muscle-fascial composite tissue flap as a safe and novelty surgical procedure for moderate-severe PHA.
METHODS
This clinical study included four patients who received a free serratus anterior muscle-fascial composite tissue flap and 19 patients who received Coleman fat transplantation. Preoperative (preoperative photograph and imageological examination) and postoperative (postoperative photograph, complications, therapeutic effect, and satisfaction) assessments were performed for all PHA patients. Body Image Concern Inventory (BICI), Self-rating Anxiety Scale (SAS), Self-rating Depression Scale (SDS) were performed preoperatively and postoperatively.
RESULTS
All the cases were cured with a good appearance with two kinds of operations. Free serratus anterior muscle-fascial composite tissue flap could correct face defects in one surgery and achieve good long time and short-time postoperative satisfaction in moderate-severe PHA. Fat transplantation could also enhance appearance in numerous operations for mild-moderate PHA. The volume of free-fat grafts decreased obviously after implantation in many cases. So, many patients (42.11%) accepted a series of operations to achieve satisfied postoperative effect. BICI, SAS, SDS score decreased a year later in all patients.
CONCLUSION
Free serratus anterior muscle-fascial composite tissue flap transplantation is an effective and safe treatment for moderate to severe PHA.
Topics: Humans; Facial Hemiatrophy; Free Tissue Flaps; Plastic Surgery Procedures; Muscle, Skeletal; Fascia
PubMed: 38036368
DOI: 10.1016/j.asjsur.2023.11.044 -
Medicina Oral, Patologia Oral Y Cirugia... Mar 2006Progressive Hemifacial Atrophy, also known as Parry-Romberg Syndrome, is an uncommon degenerative and poorly understood condition. It is characterized by a slow and... (Review)
Review
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.
Topics: Child; Disease Progression; Facial Hemiatrophy; Female; Humans
PubMed: 16505785
DOI: No ID Found -
Indian Pediatrics Feb 2013
Topics: Child; Face; Facial Hemiatrophy; Humans; Male
PubMed: 23474937
DOI: 10.1007/s13312-013-0052-x -
Medicine Nov 2022Progressive hemifacial atrophy (PHA) is a rare and progressive condition of unknown etiology that is characterized by chronic progressive atrophy of the skin,...
BACKGROUND
Progressive hemifacial atrophy (PHA) is a rare and progressive condition of unknown etiology that is characterized by chronic progressive atrophy of the skin, subcutaneous tissue, muscle, and bone on 1 side of the face. However, its precise pathogenesis remains poorly understood.
CASE PRESENTATION
Here, we report a case of PHA, which manifested as left-sided facial atrophy. Whole-exome sequencing of peripheral blood samples from the patient and his parents, together with bioinformatics analyses, led to the identification of mutations in ARHGAP4 and CFAP47.
CONCLUSION
This report is the first to describe ARHGAP4 and CFAP47 mutations in a patient with PHA. These mutations may be related to the occurrence of hemifacial atrophy, although further studies are needed to clarify the role of ARHGAP4 and CFAP47 in the context of PHA pathogenesis.
Topics: Humans; Facial Hemiatrophy; Atrophy; Exome Sequencing; Subcutaneous Fat; China
PubMed: 36401472
DOI: 10.1097/MD.0000000000031872 -
European Journal of Rheumatology May 2019Retinal vasculitis is a sight-threatening condition that can occur as an isolated ocular disorder or in association with a number of systemic diseases. Parry-Romberg... (Review)
Review
Retinal vasculitis is a sight-threatening condition that can occur as an isolated ocular disorder or in association with a number of systemic diseases. Parry-Romberg syndrome, also known as progressive hemifacial atrophy (PHA), is a rare disorder of unknown etiology characterized by unilateral facial atrophy and is associated with multiple ophthalmologic and neurologic manifestations. Here we report the case of a 17-year-old man with no prior diagnosis of PHA, who presented with a sudden onset of floaters and decreased vision in the right eye; he was found to have retinal vasculitis and uveitis in the right eye. Routine workup did not reveal the cause of retinal vasculitis. However, thorough physical examination demonstrated features of PHA overlapping with linear scleroderma en coup de sabre. The patient was started on treatment with systemic steroids with a later addition of methotrexate; he responded to treatment with considerable improvement in his symptoms and ophthalmologic examination.
PubMed: 31329538
DOI: 10.5152/eurjrheum.2019.18100 -
Indian Journal of Ophthalmology Jan 2015Progressive hemifacial atrophy (PHA) is a disease of unknown etiology affecting one-half of the face. Ocular involvement is uncommon. Atrophy of iris is rare, with only...
Progressive hemifacial atrophy (PHA) is a disease of unknown etiology affecting one-half of the face. Ocular involvement is uncommon. Atrophy of iris is rare, with only a few cases of partial atrophy being reported in the literature. We report a case of total atrophy of iris and ciliary body with associated ocular hypotony in a 16-year-old girl with PHA. We believe this is the first reported case of complete atrophy of iris and ciliary body in PHA. Ocular hypotony in PHA was thought to be due to intra-ocular inflammation. However in our case it appears to be secondary to severe atrophy of the ciliary body.
Topics: Adolescent; Atrophy; Ciliary Body; Disease Progression; Facial Hemiatrophy; Female; Follow-Up Studies; Humans; Iris; Microscopy, Acoustic; Ocular Hypotension; Uveal Diseases
PubMed: 25686066
DOI: 10.4103/0301-4738.151474 -
Ideggyogyaszati Szemle Nov 2021Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare, slowly progressive disorder characterized by unilateral, painless atrophy of the skin...
Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare, slowly progressive disorder characterized by unilateral, painless atrophy of the skin and subcutaneous tissue of the face. Neurological manifestations such as epilepsy, migraine and trigeminal neuralgia are relatively common and accompany in 15-20% of cases. Various etiologies such as infection, trauma, embryonic developmental dysfunction, sympathetic dysfunction and autoimmune disorders have been suggested as possible causes. Here we describe a 37-year-old woman whose disease manifested with dynamic contrast enhanced white matter changes over a period of two years, suggesting a "relapsing-remitting" course. Besides the inflammatory activity, positive serum-autoantibodies, inflammatory findings in cerebrospinal fluid, and an overlapping systemic autoimmune disorder may further support the hypothesis of autoimmune-inflammatory mediated pathogenesis.
Topics: Adult; Atrophy; Epilepsy; Facial Hemiatrophy; Female; Humans; Inflammation
PubMed: 34856083
DOI: 10.18071/isz.74.0409 -
Cureus Feb 2023Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological entity that is predominantly seen in childhood. Here, we present the case of a 13-year-old girl who was...
Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological entity that is predominantly seen in childhood. Here, we present the case of a 13-year-old girl who was brought to the pediatric ward for general examination with a previous history of seizures, speech difficulty, facial deviation, and progressive left-sided hemiparesis that started at the age of two, followed by delayed developmental milestones. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain showed right cerebral hemiatrophy, ventriculomegaly, hyperpneumatization of the sinus, the decreased caliber of cortical veins, and skull thickening on the right were all characteristic findings of DDMS. Based on the history, clinical presentation, and imaging findings from CT and MRI, DDMS was confirmed. Identifying DDMS in a clinical setting can be challenging because of low awareness of the condition and varied clinical presentations. Although CT and MRI imaging are the gold standards in diagnosing DDMS, the early manifestations of the disease cannot be well-appreciated on a CT and would likely require an MRI. Since there is no standardized protocol for managing DDMS, the treatment is primarily symptomatic. Early identification and diagnosis of the syndrome are essential to aid the child's mental and physical development through a multidisciplinary approach. There is also a need to improve awareness of DDMS so that the condition can be considered a potential differential diagnosis amongst other similar conditions and does not get misdiagnosed. The lack of a proper protocol for the management of DDMS prompts more research for a better understanding and early identification of the condition.
PubMed: 36923187
DOI: 10.7759/cureus.34868