1,011 results match your criteria Degos Disease


Dissecting the Roles of Innate Cells in the Skin and Intractable Skin Diseases.

Keio J Med 2022 ;71(2):53

National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, USA.

The skin is not merely a physical barrier but also an active immunological interface, exposed to various external stimuli including microbes. Over the recent years, our laboratory has defined hair follicles as control towers that regulates immune cells residing in the skin. Hair follicles produce chemokines and cytokines that are crucial for the localization and tissue-residency of immune cells including the Langerhans cells, resident memory T cells, and innate lymphoid cells. Read More

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Inflammation and thrombo-occlusive vessel signalling in benign atrophic papulosis (Köhlmeier-Degos disease).

J Eur Acad Dermatol Venereol 2022 Jun 24. Epub 2022 Jun 24.

Departments of Dermatology, Venereology, Allergology and Immunology, Dessau Medical Center, Medical School Theodor Fontane and Faculty of Health Sciences Brandenburg, Brandenburg, Dessau, Germany.

Background: Although the merely cutaneous, benign form of the extremely rare disease atrophic papulosis (Köhlmeier-Degos disease) may occasionally develop into the systemic, malignant form with time, it is unclear whether it itself exhibits any systemic characteristics.

Objective: To determine whether benign atrophic papulosis exhibits inflammatory and thrombo-occlusive signals and to classify it according to the Chapel-Hill classification of vasculitis.

Methods: In a monocentric, controlled study, levels of cytokines (IL-1β, IL-6, IL-8, IFNγ, MCP-1, VEGF, TNFα, TGF-β1), antiphospholipid antibodies (cardiolipin IgG/A/M, cardiolipin IgG, cardiolipin IgM, β2-glycoprotein IgG/A/M, phosphatidyl choline, phosphatidyl serine, phosphatidyl inositol, phosphatidyl ethanolamine and sphingomyelin A), antibodies against proteinase-3 IgG and myeloperoxidase IgG, antinuclear antibodies and extractable nuclear antigen were assessed in blood samples of six benign atrophic papulosis patients and six age- and sex-matched healthy controls. Read More

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Health care utilization and outcomes in older adults after Traumatic Brain Injury: A CENTER-TBI study.

Injury 2022 May 26. Epub 2022 May 26.

University Hospital Northern Norway, Tromso, Norway.

Introduction: The incidence of Traumatic Brain Injury (TBI) is increasingly common in older adults aged ≥65 years, forming a growing public health problem. However, older adults are underrepresented in TBI research. Therefore, we aimed to provide an overview of health-care utilization, and of six-month outcomes after TBI and their determinants in older adults who sustained a TBI. Read More

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Diffused Degos disease treated with rivaroxaban.

Ital J Dermatol Venerol 2022 Jun;157(3):294-295

Department of Dermatology, Hunan Key Laboratory of Skin Cancer and Psoriasis, Hunan Engineering Research Center of Skin Health and Disease, Xiangya Hospital, Central South University, Changsha, China -

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Cerebellar stimulation prevents Levodopa-induced dyskinesia in mice and normalizes activity in a motor network.

Nat Commun 2022 Jun 9;13(1):3211. Epub 2022 Jun 9.

Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, 75005, Paris, France.

Chronic Levodopa therapy, the gold-standard treatment for Parkinson's Disease (PD), leads to the emergence of involuntary movements, called levodopa-induced dyskinesia (LID). Cerebellar stimulation has been shown to decrease LID severity in PD patients. Here, in order to determine how cerebellar stimulation induces LID alleviation, we performed daily short trains of optogenetic stimulations of Purkinje cells (PC) in freely moving LID mice. Read More

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Atrophic papulosis (Köhlmeier-Degos disease) revisited: a cross-sectional study on 105 patients.

J Eur Acad Dermatol Venereol 2022 May 24. Epub 2022 May 24.

Departments of Dermatology, Venereology, Allergology and Immunology, Dessau Medical Center, Brandenburg Medical School Theodor Fontane and Faculty of Health Sciences Brandenburg, Dessau, Germany.

Background: Atrophic papulosis is a very rare vascular disease of unknown pathogenesis, mostly described by case reports.

Objective: To assess demographic data and prognosis in patients with atrophic papulosis.

Methods: A single-centre study was performed on a series of 105 patients with atrophic papulosis, diagnosed 2000-2021. Read More

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Exploring the pathophysiologic basis of constrictive pericarditis of Kohlmeier Degos disease: A case series and review of the literature.

Ann Diagn Pathol 2022 Aug 28;59:151943. Epub 2022 Mar 28.

Department of Medicine, Albany Medical Center, Albany, NY, United States of America.

Kohlmeier-Degos Disease is a unique thrombotic microvascular and arteriopathic vasculopathy that is highly selective in the organs it targets. It invariably involves the skin and can be a purely cutaneous process. It affects both the microvasculature and the arterial system ranging from a thrombogenic microangiopathy to a fibrointimal obliterative arteriopathy with an accompanying background of extravascular fibrosis. Read More

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Gastrointestinal Kohlmeier-Degos disease: a narrative review.

Orphanet J Rare Dis 2022 04 20;17(1):172. Epub 2022 Apr 20.

Department of Surgery, Henry Ford Health System, Detroit, MI, USA.

Introduction: Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy that can present as a benign cutaneous form or with potentially malignant systemic involvement. The gastrointestinal tract is most frequently involved in systemic disease and mortality is often related to bowel perforations. Herein, we provide information to providers and patients regarding gastrointestinal K-D symptomology, pathology, treatment, and diagnosis, with a focus on the importance of timely diagnostic laparoscopy. Read More

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Degos disease complicated by constrictive pericarditis in remote phase: a case report.

J Cardiothorac Surg 2022 Apr 1;17(1):59. Epub 2022 Apr 1.

Department of Cardiovascular Surgery, Kitasato University School of Medicine, 1-15-1 Kitasato, Minami, Sagamihara, Kanagawa, 252-0374, Japan.

Background: Degos disease, also known as malignant atrophic papulosis, is characterised by cutaneous manifestations due to chronic thrombo-obliterative vasculopathy. There have been reports of the rare late-onset Degos disease complicated by constrictive pericarditis (CP). This study reports a case of CP caused by Degos disease that developed 20 years after diagnosis. Read More

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Clinico-Pathological Features in Köhlmeier-Degos Disease with Cutaneous and Neurological Involvement.

Ann Indian Acad Neurol 2021 Nov-Dec;24(6):1005-1009. Epub 2021 Mar 27.

Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.

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Regional Selectivity of Neuromelanin Changes in the Substantia Nigra in Atypical Parkinsonism.

Mov Disord 2022 Jun 29;37(6):1245-1255. Epub 2022 Mar 29.

ICM, Centre de NeuroImagerie de Recherche-CENIR, Paris, France.

Background: Neurodegeneration in the substantia nigra pars compacta (SNc) in parkinsonian syndromes may affect the nigral territories differently.

Objective: The objective of this study was to investigate the regional selectivity of neurodegenerative changes in the SNc in patients with Parkinson's disease (PD) and atypical parkinsonism using neuromelanin-sensitive magnetic resonance imaging (MRI).

Methods: A total of 22 healthy controls (HC), 38 patients with PD, 22 patients with progressive supranuclear palsy (PSP), 20 patients with multiple system atrophy (MSA, 13 with the parkinsonian variant, 7 with the cerebellar variant), 7 patients with dementia with Lewy body (DLB), and 4 patients with corticobasal syndrome were analyzed. Read More

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A case report of Dowling-Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation-related psoriasis.

Authors:
Z Liu Z Zhu J Luo B Yang

J Eur Acad Dermatol Venereol 2022 Mar 27. Epub 2022 Mar 27.

Dermatology Hospital, Southern Medical University, Guangzhou, China.

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Quantification of Head Tremors in Medical Conditions: A Comparison of Analyses Using a 2D Video Camera and a 3D Wireless Inertial Motion Unit.

Sensors (Basel) 2022 Mar 19;22(6). Epub 2022 Mar 19.

Toulouse NeuroImaging Center (ToNIC), Inserm, UPS, Université de Toulouse, 31024 Toulouse, France.

This study compares two methods to quantify the amplitude and frequency of head movements in patients with head tremor: one based on video-based motion analysis, and the other using a miniature wireless inertial magnetic motion unit (IMMU). Concomitant with the clinical assessment of head tremor severity, head linear displacements in the frontal plane and head angular displacements in three dimensions were obtained simultaneously in forty-nine patients using one video camera and an IMMU in three experimental conditions while sitting (at rest, counting backward, and with arms extended). Head tremor amplitude was quantified along/around each axis, and head tremor frequency was analyzed in the frequency and time-frequency domains. Read More

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Maxillofacial free flap surgery outcomes in critical care: a single-center investigation looking for clues to improvement.

Perioper Med (Lond) 2022 Mar 10;11(1):11. Epub 2022 Mar 10.

Department of Anesthesia and Intensive Care, Pitié-Salpêtrière Hospital, Boulevard de l'Hôpital 47-83, 75013, Paris, France.

Background: Maxillofacial surgery for free flap reconstructions is associated with many complications due to technical complexity and comorbidity of patients. With a focus on critical care, the authors studied the impact of complications to highlight predictors of poor postoperative outcomes in order to implement optimization protocols.

Methods: This case-control study analyzed the relationship between perioperative variables and postoperative medical and surgical complications of patients who underwent head and neck surgery using fibular and forearm free flaps. Read More

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Neurological Involvement in Malignant Atrophic Papulosis: A Comprehensive Review of Literature.

Neurol India 2022 Jan-Feb;70(1):5-10

Albany Medical College, Albany, New York, USA.

Malignant atrophic papulosis (MAP), or systemic Degos disease, is an obliterative vasculopathy of unknown origin, characterized by erythematous papules found on the skin, central nervous system (Neuro-MAP) and gastrointestinal tract. Neurological involvement occurs in approximately 20% of systemic cases, is progressive and largely fatal. It can be described in two forms: 1) the parenchymal presenting with meningoencephalitis and meningomyelitis and 2) the neurovascular presenting with large cerebral infarcts, intracranial and subarachnoid hemorrhage, subdural hematoma and venous sinus thrombosis. Read More

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Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature.

Case Rep Dermatol 2021 Sep-Dec;13(3):530-536. Epub 2021 Nov 29.

Department of Dermatology, Siriraj Hospital, Faculty of Medicine, Mahidol University, Bangkok, Thailand.

Dowling-Degos disease (DDD) is an autosomal dominant disorder with variable phenotypic expression. Classically, DDD is characterized by progressive reticulate hyperpigmentation on flexures with perioral pitted scars and comedone-like hyperkeratotic papules. Follicular DDD is a rare variant which was introduced by Singh et al. Read More

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November 2021

Effect of frailty on 6-month outcome after traumatic brain injury: a multicentre cohort study with external validation.

Lancet Neurol 2022 02;21(2):153-162

School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy; Neurointensive Care Unit, San Gerardo Hospital, Monza, Italy. Electronic address:

Background: Frailty is known to be associated with poorer outcomes in individuals admitted to hospital for medical conditions requiring intensive care. However, little evidence is available for the effect of frailty on patients' outcomes after traumatic brain injury. Many frailty indices have been validated for clinical practice and show good performance to predict clinical outcomes. Read More

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February 2022

Evolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans.

J Dermatol Sci 2022 Feb 5;105(2):80-87. Epub 2022 Jan 5.

Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany. Electronic address:

Background: Mutations in the genes that encode the human γ-secretase subunits Presenilin-1, Presenilin Enhancer Protein 2, and Nicastrin (NCSTN) are associated with familial hidradenitis suppurativa (HS); and, regarding Presenilin Enhancer Protein 2, also with comorbidity for the hereditary pigmentation disorder Dowling-Degos disease.

Objective: Here, the consequences of targeted inactivation of ncstn, the zebrafish homologue of human NCSTN, were studied.

Methods: After morpholino (MO)-mediated ncstn-knockdown, the possibilities of phenotype rescue through co-injection of ncstn-MO with wildtype zebrafish ncstn or human NCSTN mRNA were investigated. Read More

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February 2022

Brain Biopsy for Neurological Diseases of Unknown Etiology in Critically Ill Patients: Feasibility, Safety, and Diagnostic Yield.

Crit Care Med 2022 06 10;50(6):e516-e525. Epub 2022 Jan 10.

Intensive Care Medicine Department, AP-HP, Sorbonne University, La Pitié-Salpêtrière Hospital, Paris, France.

Objectives: Brain biopsy is a useful surgical procedure in the management of patients with suspected neoplastic lesions. Its role in neurologic diseases of unknown etiology remains controversial, especially in ICU patients. This study was undertaken to determine the feasibility, safety, and the diagnostic yield of brain biopsy in critically ill patients with neurologic diseases of unknown etiology. Read More

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Case Report: Pediatric Malignant Atrophic Papulosis With Small Bowel Perforation and Positivity of Anticardiolipin Antibody.

Front Pediatr 2021 10;9:764797. Epub 2021 Dec 10.

Department of Dermatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Malignant atrophic papulosis (MAP) is a life-threatening vasculopathy affecting the skin, gastrointestinal tract, central nervous system, pleural membrane, and pericardium. MAP carries a poor prognosis primarily because of its systemic involvement. It is extremely rare in children. Read More

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December 2021

Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline variants.

J Med Genet 2021 Dec 22. Epub 2021 Dec 22.

Department of Neurology, AP-HP, Hôpital Avicenne, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Bobigny, France

Purpose: Cowden syndrome (CS) is an autosomal dominant disease related to germline variants and is characterised by multiple hamartomas, increased risk of cancers and frequent brain alteration. Since the behaviour of patients with CS sometimes appears to be inappropriate, we analysed their neuropsychological functioning.

Methods: This monocentric study was conducted between July 2018 and February 2020. Read More

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December 2021

A fatal case of malignant atrophic papulosis in a pediatric patient.

Pediatr Dermatol 2022 Jan 21;39(1):112-114. Epub 2021 Dec 21.

Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.

A 17-year-old Caucasian boy presented with progressive left-sided weakness, transient slurred speech, and skin lesions characterized by 3-5 mm, pink, asymptomatic papules with white atrophic centers on his central abdomen, back, and lower extremities. Skin biopsy confirmed the diagnosis of malignant atrophic papulosis, a rare vasculopathy that leads to the occlusion of small- and medium-sized arteries. He was treated with cyclophosphamide, eculizumab, treprostinil, pentoxifylline, heparin, and acetylsalicylic acid. Read More

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January 2022

Dowling-Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature.

Am J Dermatopathol 2022 Mar;44(3):e29-e32

Department of Pathology and Area Laboratory Services, San Antonio Military Medical Center, San Antonio, TX; and.

Abstract: Dowling-Degos Disease (DDD) is a rare and disfiguring autosomal dominant genodermatosis characterized by reticulate hyperpigmented macules or follicular comedone-like papules in the intertriginous areas that typically presents in the third or fourth decade of life. It is a progressive disease that is often treatment-resistant. Although its association with hidradenitis suppurativa has been well described, DDD has also been less commonly reported in conjunction with other dermatologic diseases with unknown etiologic associations. Read More

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Dopamine denervation in the functional territories of the striatum: a new MR and atlas-based I-FP-CIT SPECT quantification method.

J Neural Transm (Vienna) 2021 12 27;128(12):1841-1852. Epub 2021 Oct 27.

Department of Neurology, AP-HP Sorbonne Université, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75651, Paris Cedex 13, France.

Current quantification methods of I-FP-CIT SPECT rely on anatomical parcellation of the striatum. We propose here to implement a new method based on MRI segmentation and functional atlas of the basal ganglia (MR-ATLAS) that could provide a reliable quantification within the sensorimotor, associative, and limbic territories of the striatum. Patients with Parkinson's disease (PD), idiopathic rapid eye movement sleep behavioral disorder (iRBD), and healthy controls underwent I-FP-CIT SPECT, MRI, motor, and cognitive assessments. Read More

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December 2021

The Diagnostic Value of a Short Memory Test: The TNI-93.

J Alzheimers Dis 2021 ;84(4):1461-1471

Neurology Department, Avicenne hospital, APHP, Bobigny, Sorbonne Paris Nord, France.

Background: The TNI-93 is a quick memory test designed for all patients regardless of their education level. A significant proportion of patients with Alzheimer's disease (AD) are illiterate or poorly educated, and only a few memory tests are adapted for these patients.

Objective: In this study we aimed at assessing the diagnostic value of the TNI-93 for diagnosis of patients with biologically confirmed amyloid status. Read More

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January 2022

Malignant atrophic papulosis (Degos disease).

Australas J Dermatol 2021 Nov 27;62(4):e586-e588. Epub 2021 Sep 27.

Department of Dermatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Malignant atrophic papulosis (Degos disease) is a rare syndrome of multiple-system vascular diseases with unknown etiology. It can affect the skin, gastrointestinal tract and central nervous system. Here, we report a 58-year-old woman with extensive porcelain-white atrophic papules. Read More

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November 2021

Novel deletion of the POFUT1 gene associated with multiple seborrheic keratosis Dowling-Degos disease.

J Dermatol 2021 Dec 15;48(12):e591-e593. Epub 2021 Sep 15.

Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.

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December 2021

Neurological consequences of recreational nitrous oxide abuse during SARS-CoV-2 pandemic.

J Neurol 2022 Apr 21;269(4):1921-1926. Epub 2021 Aug 21.

Service de Neurologie, APHP, Hôpital Avicenne, Hôpitaux Universitaires de Paris - Seine Saint Denis, Sorbonne Paris Nord, Bobigny, France.

Introduction: Recreational use of nitrous oxide (NO) is a growing practice in France and all around the world and is often associated with neurological complications. We report detailed clinical and paraclinical presentations of 12 patients with combined degeneration of the spinal cord and peripheral neuropathies in relation to NO consumption, possibly favored by lockdowns due to SARS-CoV-2 pandemic.

Results: With variable levels of consumption, the 12 patients presented spinal cord and/or peripheral nerve damage, with mostly motor and ataxic symptoms, motor axonal nerve damage, and medullary T2-weighted hyperintensities on MRI. Read More

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Middle of the breasts pigmentation in a pedigree with POFUT1-related Dowling-Degos disease, expansion of the phenotype.

Postepy Dermatol Alergol 2021 Jun 26;38(3):526-527. Epub 2021 Jul 26.

Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.

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Balint's syndrome revealing Creutzfeldt-Jakob disease.

Rev Neurol (Paris) 2022 03 15;178(3):278-280. Epub 2021 Jul 15.

Service de Neurologie, AP-HP, Hôpital Avicenne, Hôpitaux Universitaires de Paris-Seine Saint-Denis, Sorbonne Paris Nord, Bobigny, France; Dynamics and Pathophysiology of Neuronal Networks Team, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR7241/Inserm U1050, Université PSL, 75005 Paris, France. Electronic address:

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