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Search on : Facial and Hemiatrophy [Words]
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[PMID]: 29476210
[Au] Autor:Tan AP; Chong WK
[Ad] Address:National University Health System, 1E Kent Ridge Rd, Singapore, 119228, Singapore. ai_peng_tan@nuhs.edu.sg.
[Ti] Title:A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?
[So] Source:Childs Nerv Syst;, 2018 Feb 23.
[Is] ISSN:1433-0350
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. In 2013, the causative mutation underlying SWS (p.R183Q somatic activating mutation in the guanine nucleotide-binding protein alpha-q (GNAQ) gene) was identified. This mutation increases downstream signaling along the RAS/MAPK pathway, resulting in increased cell proliferation. The interaction between FGFR and the RAS/MAPK signaling pathway was proposed in recent years. Elevated synthesis of fibronectin in the calvaria of patients with Apert syndrome and increased fibronectin gene expression in port wine-derived fibroblasts of patients with Sturge-Weber disease have also been reported. CASE PRESENTATION: We report a unique case of Apert and Sturge-Weber syndromes occurring in the same patient. The child was noted to demonstrate features suggestive of Apert syndrome at birth, including brachycephaly, midface hypoplasia, and syndactyly. In addition, a left-sided facial port wine stain in the forehead was noted. Magnetic resonance imaging (MRI) of the brain was performed and confirmed the diagnosis of Sturge-Weber syndrome by demonstrating the presence of left sided leptomeningeal vascular capillary malformation and left-sided cerebral hemiatrophy. CONCLUSION: To the best of our knowledge, there has been no prior described case of Apert and Sturge-Weber syndromes occurring in the same patient. This case report identifies an area of potential research on fibronectin and derangement of the RAS/MAPK signaling pathway in relation to Apert syndrome and Sturge-Weber syndrome. In view of the rare concurrence of Apert and Sturge-Weber syndromes, the underlying pathogenesis is thought to be multifactorial, one of which may be related to either increased fibronectin gene expression or derangement of the RAS/MAPK signaling pathway.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180224
[Lr] Last revision date:180224
[St] Status:Publisher
[do] DOI:10.1007/s00381-018-3758-1

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[PMID]: 29248149
[Au] Autor:Aranegui B; Jiménez-Reyes J
[Ad] Address:Servicio de Dermatología, Hospital Universitario Infanta Cristina , Parla, Madrid, España. Electronic address: baranegui@gmail.com.
[Ti] Title:Morfea en la infancia: actualización. Morphea in Childhood: An Update.
[So] Source:Actas Dermosifiliogr;, 2017 Dec 13.
[Is] ISSN:1578-2190
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Ab] Abstract:Morphea is an inflammatory, fibrosing skin disorder. When it occurs in childhood, it is also known as localized juvenile scleroderma. It is more common in girls and typically appears around the age of 5 to 7 years. According to a recent classification system, morphea is divided into 5 types: circumscribed (plaque), linear, generalized, pansclerotic, and mixed. Approximately 40% of patients present extracutaneous manifestations. Childhood morphea is treated with phototherapy, oral or topical calcitriol, topical tacrolimus 0.1%, methotrexate, topical or systemic corticosteroids, mycophenolate mofetil, bosentán, and topical imiquimod 5%. A variety of measuring tools are used to monitor response to treatment. Few prognostic studies have been conducted, but findings to date suggest that the disease tends to run a chronic or intermittent-recurrent course and frequently causes sequelae.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171217
[Lr] Last revision date:171217
[St] Status:Publisher

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[PMID]: 29040029
[Au] Autor:Riesco B; Abascal C; Duarte A; Flores RM; Rouaux G; Sampayo R; Bernardini F; Devoto M
[Ad] Address:a Oculoplástica , MIRA Clínica Oftalmológica, IOPA Clínica Oftalmológica, Hospital del Salvador , Santiago , Chile.
[Ti] Title:Autologous fat transfer with SEFFI (superficial enhanced fluid fat injection) technique in periocular reconstruction.
[So] Source:Orbit;:1-5, 2017 Oct 17.
[Is] ISSN:1744-5108
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE: To evaluate the aesthetic and functional outcomes of autologous fat transfer using the SEFFI (superficial enhanced fluid fat injection) technique for reconstruction of the periocular area. METHODS: Autologous fat injections prepared with the 0.5 mL and 0.8 mL SEFFI technique were used in four patients for periocular rehabilitation. RESULTS: Case 1 (C1): A patient with left-sided progressive facial hemiatrophy underwent ipsilateral volumizing with 0.8 SEFFI in the superior, temporal, and inferior periorbital areas, and 0.5 SEFFI in both eyelids. C2: A 21-year-old female with a post trauma frontal scar, left ptosis, and lower eyelid retraction was treated with 0.5 SEFFI applied in the scar area associated with an upper eyelid conjunctivomullerectomy and resection of the lower eyelid retractors. C3: A patient with previous left-eye evisceration and orbital floor and medial wall fractures underwent socket reconstruction with buccal mucosal graft in the lower fornix and 0.5 SEFFI injections in both superior and inferior eyelids. SEFFI was also applied in the intraorbital space for correction of the enophthalmos. C4: A patient with lower lid retraction post blepharoplasty was treated with 0.8 SEFFI injections in lower eyelids and malar areas, complemented with a bilateral lateral cantopexy. CONCLUSIONS: Autologous fat transfer with SEFFI technique is an effective and safe procedure in cases of periocular rehabilitation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:Publisher
[do] DOI:10.1080/01676830.2017.1383470

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[PMID]: 28498206
[Au] Autor:Chen WL; Huang ZS; Liao JK; Chen R
[Ad] Address:Department of Oral and Maxillofacial Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
[Ti] Title:Allograft Dermal Matrix for Restoration of Facial Contour Deformities.
[So] Source:Dermatol Surg;43(8):1091-1094, 2017 08.
[Is] ISSN:1524-4725
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Collagen/therapeutic use
Face/surgery
Facial Hemiatrophy/surgery
Reconstructive Surgical Procedures/methods
Skin Neoplasms/surgery
[Mh] MeSH terms secundary: Adolescent
Adult
Allografts
Female
Humans
Male
Retrospective Studies
Treatment Outcome
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Alloderm); 9007-34-5 (Collagen)
[Em] Entry month:1710
[Cu] Class update date: 171012
[Lr] Last revision date:171012
[Js] Journal subset:IM
[Da] Date of entry for processing:170513
[St] Status:MEDLINE
[do] DOI:10.1097/DSS.0000000000001155

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[PMID]: 28418820
[Au] Autor:Vale TC; de Lima Pinto FC; Pedroso JL; Alves Dos Reis M; Batista IR; Affonseca Bressan R; Magalhães Rivero RL; Mendonça RA; Barsottini OG
[Ad] Address:From the Department of Internal Medicine, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil (T.C.V.); Department of Neurology (F.C.d.L.P., J.L.P., O.G.B.) and Department of Psychiatry, Laboratório Interdisciplinar de Neurociências Clínicas (LiNC) (M.A.d.R., I.R.B., R.A.B.), Universidade Fed
[Ti] Title:Case 241: Hemiparkinsonism- Hemiatrophy-SPECT with Tc TRODAT-1 and Muscle MR Imaging Abnormalities.
[So] Source:Radiology;283(2):613-619, 2017 May.
[Is] ISSN:1527-1315
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:History A 43-year-old right-handed man presented with a history of progressive mild left-sided weakness and slowness of movements. Symptoms began 4 years earlier, and the patient noticed a progressive decline in his daily routine due to gait difficulties in the past year. There was no history of head trauma, surgery, drug therapy, smoking, or alcohol abuse, nor was there any relevant family history. Examination revealed normal cognition (29 of 30 points on the Mini-Mental State Examination and 27 of 30 points on the Montreal Cognitive Assessment) and normal cerebellar, sensory, cranial nerve, and autonomic function. There was mild left-sided weakness involving the upper and lower limbs (medical research council graded muscle strength as 4+ out of 5) that was associated with facial hypomimia and a rigid akinetic syndrome only in the patient's left hemibody (Unified Parkinson's Disease Rating Scale [UPDRS] part III [motor examination], 23 out of 52 points). Mild atrophy in the left upper and lower limbs without pain, swelling, or skin lesions was noted at physical examination. Routine blood chemistry was normal, as were serum creatine kinase and aldolase levels and thyroid, hepatic, and renal function. T1- and T2-weighted, fluid-attenuated inversion recovery, diffusion- and perfusion-weighted, and contrast material-enhanced brain magnetic resonance (MR) imaging results were normal, without basal ganglia hyperintensity, lacunae, calcification, or heavy metal deposits. Muscle MR imaging and single photon emission computed tomography (SPECT) with technetium 99m ( Tc) tropane dopamine transporter (TRODAT)-1 were performed for further evaluation. This patient received levodopa and benserazide (200 and 50 mg, respectively) four times a day and amantadine (100 mg) three times a day without adequate improvement (UPDRS score decreased from 23 to 20 points).
[Mh] MeSH terms primary: Magnetic Resonance Imaging/methods
Muscular Atrophy/diagnostic imaging
Organotechnetium Compounds
Paresis/diagnostic imaging
Parkinsonian Disorders/diagnostic imaging
Tomography, Emission-Computed, Single-Photon/methods
Tropanes
[Mh] MeSH terms secundary: Adult
Diagnosis, Differential
Humans
Male
Radiopharmaceuticals
Syndrome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Organotechnetium Compounds); 0 (Radiopharmaceuticals); 0 (Tropanes); 0 (technetium Tc 99m TRODAT-1)
[Em] Entry month:1704
[Cu] Class update date: 170421
[Lr] Last revision date:170421
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170419
[St] Status:MEDLINE
[do] DOI:10.1148/radiol.2017151717

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[PMID]: 28166152
[Au] Autor:Uhrhan K; Rabenstein M; Kobe C; Drzezga A; Fink GR; Burghaus L
[Ad] Address:From the Departments of *Nuclear Medicine, and †Neurology, University Hospital of Cologne, Cologne; and ‡Department of Neurology, Heilig Geist-Hospital, Cologne, Germany.
[Ti] Title:Brain Glucose Metabolism in Parry-Romberg Syndrome.
[So] Source:Clin Nucl Med;42(5):e251-e252, 2017 May.
[Is] ISSN:1536-0229
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Parry-Romberg syndrome is a rare disorder characterized by a progressive facial hemiatrophy of the skin, subcutaneous tissue, musculature, bone, and cartilage. It is often associated with neurological symptoms such as trigeminal neuropathy, paresthesia of the face, migraine, and seizures and can be paired with ocular problems and ipsilateral progressive body atrophy. Here, we present a young woman with progressive facial hemiatrophy, who was referred for FDG-PET/CT. Hypometabolism was observed in the left cingulate and postcentral gyrus, left cerebellum, and right basal ganglia. Hypometabolism may be observed before anatomical changes and therefore facilitate early diagnosis.
[Mh] MeSH terms primary: Brain/diagnostic imaging
Facial Hemiatrophy/diagnostic imaging
Fluorodeoxyglucose F18
Radiopharmaceuticals
[Mh] MeSH terms secundary: Brain/metabolism
Female
Humans
Positron Emission Tomography Computed Tomography
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Radiopharmaceuticals); 0Z5B2CJX4D (Fluorodeoxyglucose F18)
[Em] Entry month:1705
[Cu] Class update date: 170518
[Lr] Last revision date:170518
[Js] Journal subset:IM
[Da] Date of entry for processing:170207
[St] Status:MEDLINE
[do] DOI:10.1097/RLU.0000000000001558

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[PMID]: 28108114
[Au] Autor:Gassman A; Bradley JP
[Ad] Address:Temple University Plastic and Reconstructive Surgery, United States.
[Ti] Title:Commentary: The outcome of the second fat graft is significantly better than that of the first fat graft for Romberg Syndrome: A study of three-dimensional volumetric analysis.
[So] Source:J Plast Reconstr Aesthet Surg;70(4):561-562, 2017 04.
[Is] ISSN:1878-0539
[Cp] Country of publication:Netherlands
[La] Language:eng
[Mh] MeSH terms primary: Facial Hemiatrophy
Transplantation, Autologous
[Mh] MeSH terms secundary: Adipose Tissue/transplantation
Humans
[Pt] Publication type:LETTER; COMMENT
[Em] Entry month:1711
[Cu] Class update date: 171109
[Lr] Last revision date:171109
[Js] Journal subset:IM
[Da] Date of entry for processing:170122
[St] Status:MEDLINE

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[PMID]: 28053860
[Au] Autor:Adebayo PB; Bakare A; Bello MM; Olaewe OD; Wahab KW
[Ad] Address:Neurology Unit, Department of Medicine, Ladoke Akintola University of Technology Teaching Hospital, Ogbomoso, Nigeria; Department of Medicine, Ladoke Akintola University of Technology, Ogbomoso, Nigeria.
[Ti] Title:Dyke-Davidoff-Masson syndrome in a Nigerian.
[So] Source:Epilepsy Behav Case Rep;7:10-12, 2017.
[Is] ISSN:2213-3232
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Dyke-Davidoff-Masson syndrome (DDMS) is a rare, but important cause of drug-resistant seizures. Dyke-Davidoff-Masson syndrome is a constellation of clinical features that consists of hemiparesis, seizure, facial asymmetry, and intellectual disability with distinct neuroimaging features. A 27-year-old lady presented to us with drug-resistant epilepsy, hemiparesis, and intellectual disability that necessitated her withdrawal from school. Her brain magnetic resonance imaging (MRI) showed cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses consistent with DDMS. We discuss the diagnostic and therapeutic implications of DDMS and advocate early referral and evaluation of people with epilepsy in sub-Saharan African settings.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1701
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.ebcr.2016.09.003

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[PMID]: 27883877
[Au] Autor:Lóderer Z; Janovszky Á; Lázár P; Piffkó J
[Ad] Address:Plastic Surgeon, Department of Oral and Maxillofacial Surgery, University of Szeged, Szeged, Hungary.
[Ti] Title:Surgical Management of Progressive Hemifacial Atrophy With De-Epithelialized Profunda Artery Perforator Flap: A Case Report.
[So] Source:J Oral Maxillofac Surg;75(3):596-602, 2017 Mar.
[Is] ISSN:1531-5053
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Progressive hemifacial atrophy (PHA) is a rare disorder characterized by slow, unilateral atrophy of the soft tissues and bones of the craniofacial region. The defect becomes more pronounced with age, leading to esthetic and functional deficits. However, the proper timing and method of surgical reconstruction are still debated. The correction of this defect markedly influencing the quality of life of the patient can be achieved with less invasive to more invasive surgical approaches. A 21-year-old female patient with hemifacial atrophy and extensive alopecia presented to our clinic. Considering the body type and the expectations of the patient, a profunda artery perforator flap was applied for the reconstruction and esthetic improvement of the facial region. The facial asymmetry attenuated after the reconvalescence period. This case shows that in the up-to-date surgical treatment of severe PHA, the use of microvascular free flaps may provide a better approach when trying to achieve an acceptable esthetic result. This is the first time that a profunda artery perforator flap was used to restore facial asymmetry caused by PHA.
[Mh] MeSH terms primary: Facial Hemiatrophy/surgery
Perforator Flap/blood supply
Reconstructive Surgical Procedures/methods
[Mh] MeSH terms secundary: Esthetics
Facial Hemiatrophy/diagnostic imaging
Female
Humans
Radiography, Panoramic
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 170428
[Lr] Last revision date:170428
[Js] Journal subset:AIM; D; IM
[Da] Date of entry for processing:161125
[St] Status:MEDLINE

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[PMID]: 27700194
[Au] Autor:Lis-Swiety A; Brzezinska-Wcislo L; Arasiewicz H
[Ad] Address:a Department of Dermatology, School of Medicine in Katowice , Medical University of Silesia , Katowice , Poland.
[Ti] Title:Neurological abnormalities in localized scleroderma of the face and head: a case series study for evaluation of imaging findings and clinical course.
[So] Source:Int J Neurosci;127(9):835-839, 2017 Sep.
[Is] ISSN:1563-5279
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Localized scleroderma (LoS) of the face and head is often associated with neurological manifestations and/or imaging abnormalities in the central nervous system (CNS). CASE SERIES: We present an analysis of 20 cases of LoS affecting the face and head. The CNS symptoms and/or abnormalities in high-resolution computed tomography (HRCT) and/or magnetic resonance imaging (MRI) were observed in 12 patients (60%). In addition to the mild and unspecific disorders (e.g. headaches), serious neurological complications probably in the course of vasculitis were revealed: epilepsy (in two patients), epilepsy and pyramidal sings (in one patient). Neurological disorders and LoS occurred at the same time (in three patients) or at the course of the disease (nine patients) and no later than 29 years since the onset of the disease. No link between neurological disorders and the LoS clinical morphology, immunological and other laboratory parameters has been established. CONCLUSIONS: CNS involvement is not correlated with the clinical course of the facial and head LoS and may occur years after the disease initial symptomatology. Imaging follow-up is not required if there is not any emerging neurological symptom. In some cases, however, both HRCT and MRI are useful for monitoring disease evolution and addressing therapeutic choices.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1610
[Cu] Class update date: 170706
[Lr] Last revision date:170706
[St] Status:In-Process
[do] DOI:10.1080/00207454.2016.1244823


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