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    833 results match your criteria Degos Disease

    1 OF 17

    Morbihan Disease: Successful treatment with Slow-Releasing Doxycycline monohydrate.
    J Eur Acad Dermatol Venereol 2017 Aug 17. Epub 2017 Aug 17.
    Hospital of skin and Venereal Diseases, Thessaloniki.
    Morbihan Disease (MD), designated so after the place of origin of the first ever reported patient by R. Degos in 1957, is a rare disorder of unknown etiology, characterized by a persistent, erythematous, non-pitting, solid edema of the middle and upper third of the face with a non-specific histology(1) . The hallmark of MD is its refractoriness to treatment, oral isotretinoin and tetracyclines being the most successful therapeutic approaches. Read More

    Outcome of gastrostomy in parkinsonism: A retrospective study.
    Parkinsonism Relat Disord 2017 Jun 23. Epub 2017 Jun 23.
    Assistance Publique Hôpitaux de Paris, Département de Neurologie, Hôpital Pitié-Salpêtrière, F-75013 Paris, France; Institut National de Santé et en Recherche Médicale U 1127 and Centre d'Investigation Clinique 1422, F-75013 Paris, France; Centre National de Recherche Scientifique U 7225, F-75013 Paris, France; Institut du Cerveau et de la Moelle Epinière, F-75013 Paris, France. Electronic address:
    Objective: To investigate the indications and the outcomes of gastrostomy tube insertion in patients with parkinsonian syndromes.

    Methods: Consecutive patients with Parkinson's disease or atypical parkinsonism, seen in two French tertiary referral movement disorders centers, that received gastrostomy tube insertion (GTI) for feeding between 2008 and 2014 were included in this retrospective study. Data regarding clinical status, indications and outcomes were retrieved from medical files. Read More

    Impact of Transcranial Magnetic Stimulation on Functional Movement Disorders: Cortical Modulation or a Behavioral Effect?
    Front Neurol 2017 19;8:338. Epub 2017 Jul 19.
    Neurology Department, Parkinson's Disease Expert Centre, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
    Introduction: Recent studies suggest that repeated transcranial magnetic stimulation (TMS) improves functional movement disorders (FMDs), but the underlying mechanisms are unclear. The objective was to determine whether the beneficial action of TMS in patients with FMDs is due to cortical neuromodulation or rather to a cognitive-behavioral effect.

    Method: Consecutive patients with FMDs underwent repeated low-frequency (0. Read More

    Recognizing Syndromic Hidradenitis Suppurativa: a review of the literature.
    J Eur Acad Dermatol Venereol 2017 Jul 11. Epub 2017 Jul 11.
    Department of Dermatology, Zealand University Hospital, Roskilde; Health Sciences Faculty, University of Copenhagen, Denmark.
    Background: Hidradenitis suppurativa (HS) is an inflammatory skin disease causing painful inflammation and suppuration. It may occur in rare syndromes: follicular occlusion, Bazex-Dupré-Christol, Down's, KID, PAPASH, PASS, PASH, and SAPHO syndromes, as well as Dowling-Degos disease. An overview of syndromic HS may inform the search for etiological factors in HS. Read More

    Systemic lupus erythematosus, following prodromal idiopathic thrombocytopenic purpura, presenting with skin lesions resembling malignant atrophic papulosis.
    Clin Exp Dermatol 2017 Jul 10. Epub 2017 Jul 10.
    Department of Dermatology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
    Systemic lupus erythematosus (SLE) is an autoimmune disease. Its incidence in the UK is approximately 1 per 10 000. Cutaneous involvement, encompassing acute, subacute and chronic disease, occurs in over two-thirds of cases, and can often be the first clue to diagnosis. Read More

    Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene.
    J Eur Acad Dermatol Venereol 2017 Jun 24. Epub 2017 Jun 24.
    Institute of Dermatology, Chinese Academy of Medical Sciences, 12 Jiangwangmiao Road, Nanjing, 210042, China.
    Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterised by acquired hyperpigmentation in a reticulate pattern, particularly affecting the flexural areas and other major skin folds. Mutations in KRT5, POFUT1 and POGLUT1 genes have been identified as causative genetic defects(1,2,3) . We report a new mutation in KRT5 in a sporadic Chinese patient with classical features of DDD. Read More

    PSENEN mutation carriers with co-manifestation of acne inversa (AI) and Dowling-Degos disease (DDD): Is AI or DDD the subphenotype?
    J Invest Dermatol 2017 Jun 7. Epub 2017 Jun 7.
    Department of Dermatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), 33 Badachu Road, Beijing, 100144, China. Electronic address:

    Benign atrophic papulosis (Köhlmeier-Degos disease): the wedge-shaped dermal necrosis can resolve with time.
    J Eur Acad Dermatol Venereol 2017 May 23. Epub 2017 May 23.
    Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.
    Background: Atrophic papulosis is a rare thrombo-occlusive disease, characterized by the appearance of multiple atrophic porcelain-white skin papules, with a surrounding erythematous rim, which are histologically consisting of wedge-shaped necrosis of the dermis.

    Objective: It consists of two variants: (i) the benign atrophic papulosis (BAP) only involving the skin and (ii) the malignant atrophic papulosis (MAP) also involving several internal organs with a cumulative five-year survival rate of approx. 55%. Read More

    A Selective Role for Dopamine in Learning to Maximize Reward But Not to Minimize Effort: Evidence from Patients with Parkinson's Disease.
    J Neurosci 2017 Jun 24;37(25):6087-6097. Epub 2017 May 24.
    Motivation, Brain and Behavior Laboratory, Brain and Spine Institute, Paris, 75013, France,
    Instrumental learning is a fundamental process through which agents optimize their choices, taking into account various dimensions of available options such as the possible reward or punishment outcomes and the costs associated with potential actions. Although the implication of dopamine in learning from choice outcomes is well established, less is known about its role in learning the action costs such as effort. Here, we tested the ability of patients with Parkinson's disease (PD) to maximize monetary rewards and minimize physical efforts in a probabilistic instrumental learning task. Read More

    Updated review of genetic reticulate pigmentary disorders.
    Br J Dermatol 2017 Apr 13. Epub 2017 Apr 13.
    Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
    Reticulate pigmentary disorders are a group of disorders characterized by hyperpigmented and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura. Although, each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, these disorders are highly overlapped and difficult to differentiate in the clinical setting. Read More

    Degos-Like Lesions Associated with Systemic Lupus Erythematosus.
    Ann Dermatol 2017 Apr 24;29(2):215-218. Epub 2017 Mar 24.
    Department of Dermatology, Kosin University College of Medicine, Busan, Korea.
    Degos disease, also referred to as malignant atrophic papulosis, was first described in 1941 by Köhlmeier and was independently described by Degos in 1942. Degos disease is characterized by diffuse, papular skin eruptions with porcelain-white centers and slightly raised erythematous telangiectatic rims associated with bowel infarction. Although the etiology of Degos disease is unknown, autoimmune diseases, coagulation disorders, and vasculitis have all been considered as underlying pathogenic mechanisms. Read More

    Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.
    Glycobiology 2017 Mar 17:1-10. Epub 2017 Mar 17.
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.
    Protein O-fucosyltransferase-1 (POFUT1), which transfers fucose residues to acceptor sites on serine and threonine residues of epidermal growth factor-like repeats of recipient proteins, is essential for Notch signal transduction in mammals. Here, we examine the consequences of POFUT1 loss on the oncogenic signaling associated with certain leukemia-associated mutations of human Notch1, report the structures of human POFUT1 in free and GDP-fucose bound states, and assess the effects of Dowling-Degos mutations on human POFUT1 function. CRISPR-mediated knockout of POFUT1 in U2OS cells suppresses both normal Notch1 signaling, and the ligand-independent signaling associated with leukemogenic mutations of Notch1. Read More

    Congenital Degos Disease: Case Report and Dermoscopic Findings.
    Pediatr Dermatol 2017 May 20;34(3):e109-e115. Epub 2017 Mar 20.
    Department of Dermatology, Instituto Nacional de Salud del Niño, Lima, Perú.
    Pediatric Degos disease is rare, with only 36 cases reported in the medical literature. Classically the diagnosis has been established according to pathognomonic histopathologic findings, but when these features are not present, there may be a delay in diagnosis. We report the second congenital case of Degos disease, highlighting the clinical and dermoscopic findings. Read More

    Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
    J Clin Invest 2017 Apr 13;127(4):1485-1490. Epub 2017 Mar 13.
    Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been excluded. Further examination revealed that the histopathologic feature of follicular hyperkeratosis distinguished these 6 patients from previously studied individuals with DDD. Read More

    Benign Atrophic Papulosis (Degos Disease) With Lymphocytic Vasculitis and Lichen Sclerosus-Like Features.
    Am J Dermatopathol 2017 Feb 14. Epub 2017 Feb 14.
    *Department of Dermatology, University of Central Florida College of Medicine, Orlando, FL; and †Department of Dermatology, University of Florida College of Medicine, Gainesville, FL.
    Degos disease manifests as 2 distinct clinical variants, malignant atrophic papulosis and benign atrophic papulosis, which are distinguished by the presence or absence of systemic disease. Both forms feature cutaneous involvement typified by erythematous papules with scar-like centers, and the classic histologic picture is described as wedge-shaped dermal necrosis overlying thrombotic vasculopathy. However, the histopathology of early lesions is distinct and more variable. Read More

    Pedunculopontine network dysfunction in Parkinson's disease with postural control and sleep disorders.
    Mov Disord 2017 May 6;32(5):693-704. 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 May 25;38(5):556-568. Epub 2017 Feb 25.
    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 (four index patients/510; 0. Read More

    Antisaccades in Parkinson disease: A new marker of postural control?
    Neurology 2017 Feb 27;88(9):853-861. 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 May 16;44(5):470-473. Epub 2017 Feb 16.
    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 12;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

    Fragmented Sleep Enhances Postoperative Neuroinflammation but Not Cognitive Dysfunction.
    Anesth Analg 2017 Jan;124(1):270-276
    From the *Department of Anesthesia and Perioperative Medicine, University of California, Los Angeles, California; †INSERM, Paris, France; and ‡Department of Anesthesia and Perioperative Care, University of California San Francisco, San Francisco, California.
    Background: Sleep is integral to biologic function, and sleep disruption can result in both physiological and psychologic dysfunction including cognitive decline. Surgery activates the innate immune system, inducing neuroinflammatory changes that interfere with cognition. Because surgical patients with sleep disorders have an increased likelihood of exhibiting postoperative delirium, an acute form of cognitive decline, we investigated the contribution of perioperative sleep fragmentation (SF) to the neuroinflammatory and cognitive responses of surgery. 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:
    KEY TEACHING POINTS. Read More

    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):451-461. Epub 2016 Jun 20.
    Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA, 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 05 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.

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