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    812 results match your criteria Degos Disease

    1 OF 17

    Pedunculopontine network dysfunction in Parkinson's disease with postural control and sleep disorders.
    Mov Disord 2017 Feb 6. Epub 2017 Feb 6.
    Inserm, U 1127, Paris, France.
    Background: The objective of this study was to investigate pedunculopontine nucleus network dysfunctions that mediate impaired postural control and sleep disorder in Parkinson's disease.

    Methods: We examined (1) Parkinson's disease patients with impaired postural control and rapid eye movement sleep behavior disorder (further abbreviated as sleep disorder), (2) Parkinson's disease patients with sleep disorder only, (3) Parkinson's disease patients with neither impaired postural control nor sleep disorder, and (4) healthy volunteers. We assessed postural control with clinical scores and biomechanical recordings during gait initiation. Read More

    "De-novo" consultation: Evaluation of an outpatient's clinic dedicated to early diagnosis of parkinsonian syndromes.
    Rev Neurol (Paris) 2017 Jan - Feb;173(1-2):55-61. Epub 2017 Jan 31.
    Département de neurologie, centre expert inter-régional de coordination de la maladie de Parkinson, groupe hospitalier Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France. Electronic address:
    Introduction: In the absence of specific clinical signs, imaging or biomarkers, the differential diagnosis of degenerative parkinsonian syndromes may be difficult at early stages of the disease. To reduce the risk of misdiagnosis or delayed diagnosis and referral to multiple medical centers at disease onset, easier access to expert centers should be available. To improve the initial care of parkinsonian patients, the Parkinson's disease Expert Center (PEC) at Pitié-Salpêtrière Academic Hospital has set up a specific outpatients clinic with short waiting times dedicated to the diagnosis of early Parkinson's disease and related disorders. Read More

    Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic and Functional Insights into Novel Mutations.
    Hum Mutat 2017 Feb 1. Epub 2017 Feb 1.
    Neuromuscular Disease Centre, Hôpital de la Pitié-Salpétrière, APHP, Paris, France.
    In this study, we describe the phenotypic spectrum of distal hereditary motor neuropathy caused by mutations in the small heat shock proteins HSPB1 and HSPB8 and investigate the functional consequences of newly discovered variants. Among 510 unrelated patients with distal motor neuropathy, we identified mutations in HSPB1 (28 index patients/510; 5.5%) and HSPB8 (4 index patients/510; 0. Read More

    Antisaccades in Parkinson disease: A new marker of postural control?
    Neurology 2017 Jan 27. Epub 2017 Jan 27.
    From APHP (C.E., M.-L.W., B.D., M.V.), Département de neurologie, Hôpital Pitié-Salpêtrière; Sorbonne Universités (C.E., C.G., M.-L.W., L.Y.C., B.D., P.P., S.L., S.R.-P., M.V.), UPMC Université Paris 06, Inserm U1127, CNRS UMR 7225, UM 75, ICM; APHP (C.E., A.D., M.V.), INSERM, ICM, Centre d'Investigation Clinique Pitié Neurosciences, CIC-1422, Département des Maladies du Système Nerveux, Hôpital Pitié-Salpêtrière; Equipex MATRICE (S.M.), Université Paris 1 Panthéon-Sorbonne; Centre de Neuroimagerie de Recherche (C.G., L.Y.C., S.L.), Institut du Cerveau et de la Moelle Epinière; Centre Inter-Régional de Coordination de la Maladie de Parkinson (M.-L.W., B.D., M.V.) and Département de Neurophysiologie clinique (B.G.), Hôpital Pitié-Salpêtrière; Inserm UMR-S 678 (H.B.), Laboratoire d'Imagerie Fonctionnelle, UPMC-Paris 6, Paris; and CEA (C.P.), NeuroSpin, Gif-Sur-Yvette, France.
    Objective: To describe the relation between gaze and posture/gait control in Parkinson disease (PD) and to determine the role of the mesencephalic locomotor region (MLR) and cortex-MLR connection in saccadic behavior because this structure is a major area involved in both gait/postural control and gaze control networks.

    Methods: We recruited 30 patients with PD with or without altered postural control and 25 age-matched healthy controls (HCs). We assessed gait, balance, and neuropsychological status and separately recorded gait initiation and eye movements (visually guided saccades and volitional antisaccades). Read More

    Morbihan disease complicated by dermatosis neglecta: An unique presentation.
    J Cutan Pathol 2017 Jan 18. Epub 2017 Jan 18.
    Dermatopathology Division, Department of Pathology, Sylvester Comprehensive Cancer Center, Miami, Florida.
    Morbihan disease, also referred to as solid facial edema, or rosacea lymphedema, is a rare disorder that involves chronic erythema and solid edema of the cheeks, eyelids, forehead and glabella and may arise as a complication of acne vulgaris or rosacea. Of note, it may be the only initial presenting symptom of these associated diseases. Few cases have been described in the literature, as its first description by Robert Degos in 1957. Read More

    Dystonia treatment: Patterns of medication use in an international cohort.
    Neurology 2017 Feb 11;88(6):543-550. Epub 2017 Jan 11.
    From the Departments of Neurology (S.P.R., A.R.W., A.D.) and Family and Community Medicine (B.S.), University of New Mexico Health Sciences Center, Albuquerque; and Departments of Neurology, Human Genetics, and Pediatrics (H.A.J.), Emory University School of Medicine, Atlanta, GA.
    Objective: To determine the frequency of medication use in patients with dystonia enrolled in an international biorepository study.

    Methods: In a cross-sectional analysis, we included 2,026 participants enrolled at 37 sites in the United States, Canada, Europe, and Australia through Project 1 of the Dystonia Coalition, an international biorepository study. The primary aim was to assess the frequency of medication classes recommended for treating patients with dystonia, and the secondary aim was to compare characteristics (disease type, age, sex, duration of disease, comorbid conditions, severity). Read More

    Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.
    Chin Med J (Engl) 2016 5th Dec;129(23):2834-2839
    Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
    Background: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI. Read More

    A case of Degos disease in pregnancy.
    Obstet Med 2016 Dec 1;9(4):167-168. Epub 2016 Jun 1.
    Division of Rheumatology, MassGeneral Hospital for Children and Harvard Medical School, Boston, MA, USA; Heritage Provider Network, Los Angeles, CA, USA.
    Degos disease is characterized as a rare systemic vaso-occlusive disorder, although the exact pathophysiology is uncertain. Fewer than 200 patients have been reported in the literature, and only two reports describe the course of the disease during pregnancy. Here, we present the first reported case of the course of pregnancy in a woman with the systemic form of Degos disease. Read More

    Diffuse atrophic papules and plaques, intermittent abdominal pain, paresthesias, and cardiac abnormalities in a 55-year-old woman.
    J Am Acad Dermatol 2016 Dec 4;75(6):1274-1277. Epub 2016 Oct 4.
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

    Dermoscopy in General Dermatology: A Practical Overview.
    Dermatol Ther (Heidelb) 2016 Dec 9;6(4):471-507. Epub 2016 Sep 9.
    Department of Experimental and Clinical Medicine, Institute of Dermatology, University of Udine, Udine, Italy.
    Over the last few years, dermoscopy has been shown to be a useful tool in assisting the noninvasive diagnosis of various general dermatological disorders. In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. Read More

    Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
    Br J Dermatol 2017 Jan 24;176(1):270-274. Epub 2016 Sep 24.
    Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.

    Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.
    Nat Chem Biol 2016 Sep 18;12(9):735-40. Epub 2016 Jul 18.
    Biology Department, Brookhaven National Laboratory, Upton, New York, USA.
    Rumi O-glucosylates the EGF repeats of a growing list of proteins essential in metazoan development, including Notch. Rumi is essential for Notch signaling, and Rumi dysregulation is linked to several human diseases. Despite Rumi's critical roles, it is unknown how Rumi glucosylates a serine of many but not all EGF repeats. Read More

    Febrile ulceronecrotic Mucha-Habermann disease in an 8-year-old boy responding to methotrexate.
    Int J Dermatol 2016 Nov;55(11):1205-1209
    ExpressMed Laboratories, Kingdom of Bahrain.
    Background: Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare fulminant variant of pityriasis lichenoides et varioliformis acuta (PLEVA) characterized by a rapidly progressive course with predominant ulceronecrotic lesions associated with fever and systemic manifestations. First described by Degos in 1966, it carries a high morbidity and is potentially fatal. The exact pathogenesis is not clear, but it is proposed to be the result of hypersensitivity reaction to an infection. Read More

    Computational Dissection of Dopamine Motor and Motivational Functions in Humans.
    J Neurosci 2016 Jun;36(25):6623-33
    Motivation, Brain and Behavior Team, Institut du cerveau et de la Moelle Epinière, INSERM UMR1127, CNRS UMR 7225, Université Pierre et Marie Curie-Paris 6,
    Unlabelled: Motor dysfunction (e.g., bradykinesia) and motivational deficit (i. Read More

    Orthostatic tremor: a cerebellar pathology?
    Brain 2016 Aug 21;139(Pt 8):2182-97. Epub 2016 Jun 21.
    2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 8 AP-HP, Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France.
    SEE MUTHURAMAN ET AL DOI101093/AWW164 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Primary orthostatic tremor is characterized by high frequency tremor affecting the legs and trunk during the standing position. Cerebellar defects were suggested in orthostatic tremor without direct evidence. We aimed to characterize the anatomo-functional defects of the cerebellar motor pathways in orthostatic tremor. Read More

    Persistent infiltration and pro-inflammatory differentiation of monocytes cause unresolved inflammation in brain arteriovenous malformation.
    Angiogenesis 2016 Oct 20;19(4):451-61. Epub 2016 Jun 20.
    Department of Anesthesia and Perioperative Care, Center for Cerebrovascular Research, University of California, San Francisco, 1001 Potrero Avenue, Box 1363, San Francisco, CA, 94143, USA.
    An abnormally high number of macrophages are present in human brain arteriovenous malformations (bAVM) with or without evidence of prior hemorrhage, causing unresolved inflammation that may enhance abnormal vascular remodeling and exacerbate the bAVM phenotype. The reasons for macrophage accumulation at the bAVM sites are not known. We tested the hypothesis that persistent infiltration and pro-inflammatory differentiation of monocytes in angiogenic tissues increase the macrophage burden in bAVM using two mouse models and human monocytes. Read More

    Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.
    Orphanet J Rare Dis 2016 Apr 16;11:41. Epub 2016 Apr 16.
    AP-HP, UF Neurométabolique Bioclinique et Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
    Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with CTX. Read More

    [Clinicopathological aspects of terra firma-forme dermatosis].
    Ann Dermatol Venereol 2016 Jun-Jul;143(6-7):446-52. Epub 2016 Apr 6.
    Clinique dermatologique, hôpitaux universitaires de Strasbourg, BP 426, 1, place de l'Hôpital, 67091 Strasbourg cedex, France.
    Background: Terra firma-forme dermatosis was first described in 1987. It is characterized by the appearance in children or adolescents of dirt-like patches despite normal cleansing. The lesions are removed when the skin is rubbed with a 70°C alcohol swab. Read More

    Quality of life in Parkinson's disease improved by apomorphine pump: the OPTIPUMP cohort study.
    J Neurol 2016 Jun 8;263(6):1111-9. Epub 2016 Apr 8.
    Department of Medical Pharmacology, INSERM U1171, Lille University, CHU Lille, 2, avenue Oscar Lambret, 59037, Lille, France.
    To report on OPTIPUMP, a cohort study, investigating the impact in real-life clinical settings of continuous subcutaneous apomorphine infusion (CSAI) on the quality of life (HRQoL) of patients with Parkinson's disease. OPTIPUMP was a prospective, open-label, observational cohort study involving 30 investigational sites in France. CSAI was proposed as part of routine clinical care to patients aged ≥18 years, in absence of dementia, with a PD diagnosis and based on the presence of motor fluctuations not controlled by oral treatments. Read More

    Atypical cases of Dowling-Degos disease.
    Indian Dermatol Online J 2016 Mar-Apr;7(2):99-102
    Department of Pathology, Sri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital (SDMCMS and H), Dharwad, Karnataka, India.
    Dowling-Degos disease (DDD) is a rare autosomal dominant condition characterized by multiple, small, round pigmented macules usually arranged in reticular pattern, chiefly distributed in axillae and groins. Here we are reporting three atypical cases of DDD in a family. They had hypopigmented macules with typical features of DDD indicating generalized DDD. Read More

    PINK1 and FLNA mutations association: A role for atypical parkinsonism?
    Parkinsonism Relat Disord 2016 May 2;26:78-80. Epub 2016 Mar 2.
    Département des Maladies du Système Nerveux, Centre Inter-Régional de Coordination de la Maladie de Parkinson, Hôpital Pitié-Salpêtrière, APHP, Paris, 75013, France; Université Pierre et Marie Curie-Paris 6, Laboratoire de Biologie du Développement, UMR 7622, Paris, 75005, France; Centre National de la Recherche Scientifique, Laboratoire de Biologie du Développement, UMR 7622 Paris, 75005, France.

    Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity.
    Indian Dermatol Online J 2016 Jan-Feb;7(1):32-5
    Department of Dermatology, Chirayu Medical College and Hospital, Bhopal, Madhya Pradesh, India.
    Dowling-Degos disease (DDD) and reticulate acropigmentation of Kitamura (RAK) are rare genodermatoses inherited as an autosomal dominant trait with variable penetrance. They are considered to be part of a spectrum of reticulate pigmentary dermatoses, characterized by the presence of hyperpigmented macules coalescing in a reticular fashion. The authors describe a 28-year-old male patient having hyperpigmented macules on the axillae, neck and face, reticulate acropigmentation of dorsum of the hands, forearms and feet, palmar pitting, and comedo-like lesions over back. Read More

    Degos disease mimicking primary vasculitis of the CNS.
    Neurol Neuroimmunol Neuroinflamm 2016 Apr 2;3(2):e206. Epub 2016 Feb 2.
    Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA.

    [Lymphomatoid papulosis: a clinicopathologic study of 22 cases].
    Zhonghua Yi Xue Za Zhi 2015 Dec;95(46):3750-2
    Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China.
    Objective: To investigate the clinical presentation, histopathological features, progression, and treatment of lymphomatoid papulosis (LyP).

    Methods: A retrospective review was performed on clinicopathological data of 22 patients diagnosed with LyP from June 2010 to March 2015 in Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College.

    Result: The mean age of the 22 LyP patients was 39 years (range: 7-83 years). Read More

    Dowling-Degos disease co-presenting with Darier disease.
    Clin Exp Dermatol 2016 Jun 18;41(4):410-2. Epub 2015 Dec 18.
    Department of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA.
    We present a case of a patient with long-standing hyperpigmented macules and erythematous papules over his chest, abdomen, back and arms, suggestive of Dowling-Degos disease (DDD). In addition, there were hyperkeratotic papules, alternating red and white nail-bed discolouration, and V-shaped nail notching consistent with Darier disease (DD). Histology showed findings consistent with DDD and DD on separate specimens. Read More

    Brucella discriminates between mouse dendritic cell subsets upon in vitro infection.
    Virulence 2016 25;7(1):33-44. Epub 2015 Nov 25.
    a Centre d'Immunologie de Marseille-Luminy; Aix Marseille Université; CNRS UMR7280; INSERM U1104 ; Marseille , France.
    Brucella is a Gram-negative bacterium responsible for brucellosis, a worldwide re-emerging zoonosis. Brucella has been shown to infect and replicate within Granulocyte macrophage colony-stimulating factor (GMCSF) in vitro grown bone marrow-derived dendritic cells (BMDC). In this cell model, Brucella can efficiently control BMDC maturation. Read More

    Bee Venom Alleviates Motor Deficits and Modulates the Transfer of Cortical Information through the Basal Ganglia in Rat Models of Parkinson's Disease.
    PLoS One 2015 16;10(11):e0142838. Epub 2015 Nov 16.
    Aix Marseille Université, CNRS, IBDM UMR 7288, Marseille, France.
    Recent evidence points to a neuroprotective action of bee venom on nigral dopamine neurons in animal models of Parkinson's disease (PD). Here we examined whether bee venom also displays a symptomatic action by acting on the pathological functioning of the basal ganglia in rat PD models. Bee venom effects were assessed by combining motor behavior analyses and in vivo electrophysiological recordings in the substantia nigra pars reticulata (SNr, basal ganglia output structure) in pharmacological (neuroleptic treatment) and lesional (unilateral intranigral 6-hydroxydopamine injection) PD models. Read More

    Acquired neurocutaneous disorders.
    Handb Clin Neurol 2015 ;132:29-73
    Department of Neurology, Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA. Electronic address:
    A variety of neurologic diseases have cutaneous manifestations. These may precede, coincide with, or follow the neurologic findings. An array of autoimmune, genetic, and environmental factors play a role in expression and severity of the neurologic burden in these conditions. Read More

    ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
    Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.
    From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S
    Objective: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia and genotype-phenotype relationship.

    Methods: We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was confirmed by allele-specific amplification. Read More

    Laparoscopy shows superiority over endoscopy for early detection of malignant atrophic papulosis gastrointestinal complications: a case report and review of literature.
    BMC Gastroenterol 2015 Nov 2;15:156. Epub 2015 Nov 2.
    Gastroenterology Consultants, Albany, NY, USA.
    Background: The malignant form of atrophic papulosis (Köhlmeier-Degos disease) is a rare thrombo-occlusive vasculopathy that can affect multiple organ systems. Patients typically present with distinctive skin lesions reflective of vascular drop out. The small bowel is the most common internal organ involved, resulting in considerable morbidity and mortality attributable to ischemic microperforations. Read More

    Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2.
    PLoS Genet 2015 Oct 23;11(10):e1005551. Epub 2015 Oct 23.
    Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America.
    Crumbs family proteins are apical transmembrane proteins with ancient roles in cell polarity. Mouse Crumbs2 mutants arrest at midgestation with abnormal neural plate morphology and a deficit of mesoderm caused by defects in gastrulation. We identified an ENU-induced mutation, wsnp, that phenocopies the Crumbs2 null phenotype. Read More

    Opioid associated intravenous and cutaneous microvascular drug abuse (skin-popping) masquerading as Degos disease (malignant atrophic papulosis) with multiorgan involvement.
    Dermatol Online J 2015 Sep 17;21(9). Epub 2015 Sep 17.
    Weill Cornell College of Cornell University.
    Background: In 2012, a nephrologist reported the development of a multiorgan thrombotic syndromic complex resembling thrombotic thrombocytopenic purpura (TTP) in patients who were abusing long acting oxymorphone hydrochloride; all patients had hemolytic anemia and thrombocytopenia.

    Objective: Herein, we report another case involving a 31-year-old woman who self intravenously administered dissolved oral oxymorphone resulting in thrombotic sequelae resembling Degos disease.

    Methods: Formalin-fixed and paraffin embedded skin biopsies were prepared according to standard protocols for H&E and immunohistochemistry. Read More

    A case of malignant atrophic papulosis with cranial nerve and peripheral nerve impairment.
    An Bras Dermatol 2015 May-Jun;90(3 Suppl 1):19-21
    Jinling Hospital, Medical School, Nanjing University, Nanjing, CN.
    Malignant atrophic papulosisis is a rare, multisystem obliterative vasculopathy of unknown etiology, occasionally involving the cranial nerve. We describe the first case of malignant atrophic papulosisis with cranial nerve and peripheral nerve involvement in China. A 47-year-old woman presented to our hospital with atrophic porcelain white papules over the trunk and extremities, numbness in the right calf, vision decrease and impaired movement of the right eye. Read More

    Degos disease - malignant atrophic papulosis or cutaneointestinal lethal syndrome: rarity of the disease.
    Clin Exp Gastroenterol 2015 16;8:141-7. Epub 2015 Apr 16.
    Sirio Libanes Hospital, São Paulo, Brazil.
    Background: Degos disease is a very rare syndrome with a rare type of multisystem vasculopathy of unknown cause that affects the skin, gastrointestinal tract, and central nervous system. Other organs such as the kidneys, lungs, pleura, liver, heart, and eyes, can also be involved.

    Objective: To highlight the incidence of Degos disease with regard to age and sex, discuss the necessity of its accurate and early diagnosis, and demonstrate the most current techniques for its diagnosis; to discuss whether early therapeutic intervention can impact patient prognosis; and to present a literature review about this disease. Read More

    Escherichia coli α-hemolysin counteracts the anti-virulence innate immune response triggered by the Rho GTPase activating toxin CNF1 during bacteremia.
    PLoS Pathog 2015 Mar 17;11(3):e1004732. Epub 2015 Mar 17.
    INSERM, U1065, Centre Méditerranéen de Médecine Moléculaire, C3M, Toxines Microbiennes dans la relation hôte pathogènes, Nice, France; Université de Nice-Sophia-Antipolis, UFR Médecine, Nice, France.
    The detection of the activities of pathogen-encoded virulence factors by the innate immune system has emerged as a new paradigm of pathogen recognition. Much remains to be determined with regard to the molecular and cellular components contributing to this defense mechanism in mammals and importance during infection. Here, we reveal the central role of the IL-1β signaling axis and Gr1+ cells in controlling the Escherichia coli burden in the blood in response to the sensing of the Rho GTPase-activating toxin CNF1. Read More

    The long-term outcome of orthostatic tremor.
    J Neurol Neurosurg Psychiatry 2016 Feb 13;87(2):167-72. Epub 2015 Mar 13.
    Department of Neurology, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France CRICM UPMC/INSERM UMR 1127 CNRS UMR7225 Brain and Spine Institute, Paris, France Pierre Marie Curie Paris-6 University, Paris, France.
    Objectives: Orthostatic tremor is a rare condition characterised by high-frequency tremor that appears on standing. Although the essential clinical features of orthostatic tremor are well established, little is known about the natural progression of the disorder. We report the long-term outcome based on the largest multicentre cohort of patients with orthostatic tremor. Read More

    Degos disease: report of a case and review of the literature.
    G Ital Dermatol Venereol 2015 Feb;150(1):123-6
    Dermatology Section, Department of Clinical Medicine and Immunological Sciences, University of Siena, Siena, Italy -
    We report the case of a 20-year-old woman with one-year history of asymptomatic pink papules on the abdomen, with central atrophy. Fever and symptoms suggesting involvement of other organs were absent. Histological examination revealed wedge-shaped area of cutaneous ischemia extending into the deep dermis with superficial and deep perivascular lymphocytic infiltrate. Read More

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