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Ann Dermatol Venereol 2020 Jun 26. Epub 2020 Jun 26.

4, rue Léon-Delhomme, 75015 Paris, France.

Int J Mol Sci 2020 Jun 13;21(12). Epub 2020 Jun 13.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.

Notch signaling orchestrates the regulation of cell proliferation, differentiation, migration and apoptosis of epidermal cells by strictly interacting with other cellular pathways. Any disruption of Notch signaling, either due to direct mutations or to an aberrant regulation of genes involved in the signaling route, might lead to both hyper- or hypo-activation of Notch signaling molecules and of target genes, ultimately inducing the onset of skin diseases. The mechanisms through which Notch contributes to the pathogenesis of skin diseases are multiple and still not fully understood. Read More

Ann Dermatol Venereol 2020 Jun 9. Epub 2020 Jun 9.

Service de dermatologie, hôpital universitaire de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

Purpose: To report on the characteristics of juvenile dermatomyositis (JDM).

Patients And Methods: This was a retrospective, descriptive, cross-sectional, non-interventional, multicenter study conducted in Alsace between 2000 and 2015. The patients, aged 0 to 16years, had JDM according to both the Bohan and Peter and the EULAR/ACR criteria. Read More

Ann Diagn Pathol 2020 May 30;47:151545. Epub 2020 May 30.

Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States of America.

Malignant atrophic papulosis (Degos disease) is an unusual thrombotic microangiopathy of uncertain etiology. The disease characteristically involves the skin and internal organs, with nervous system involvement more common in children. We present a case with diverse neurological manifestations including cranial nerve palsies, gait instability, and urinary incontinence. Read More

Australas J Dermatol 2020 Jun 1. Epub 2020 Jun 1.

Department of Dermatology, Zhongshan Hospital Xiamen University, Xiamen, Fujian, China.

We reported a Chinese pedigree with scrotal Dowling-Degos disease and evaluated the phenotypic and genotypic characteristics. In affected cases, pigmented macules were identified on the scrotum. The rashes increased, and the colour deepened progressively. Read More

Parkinsonism Relat Disord 2020 May 1;75:30-33. Epub 2020 May 1.

CHU, Toulouse, France.

Objective: To examine the relationship between a Parkinson's disease (PD) polygenic risk score (PRS) and impulse control disorders (ICDs) in PD.

Background: Genome wide association studies (GWAS) have brought forth a PRS associated with increased risk of PD and younger disease onset. ICDs are frequent adverse effects of dopaminergic drugs and are also more frequent in patients with younger disease onset. Read More

Stroke 2020 07 20;51(7):2012-2017. Epub 2020 May 20.

Neuroradiology Department, CH Sainte-Anne, Paris, France (B.K., W.B.H., G.B.).

Background And Purpose: The efficiency of prehospital care chain response and the adequacy of hospital resources are challenged amid the coronavirus disease 2019 (COVID-19) outbreak, with suspected consequences for patients with ischemic stroke eligible for mechanical thrombectomy (MT).

Methods: We conducted a prospective national-level data collection of patients treated with MT, ranging 45 days across epidemic containment measures instatement, and of patients treated during the same calendar period in 2019. The primary end point was the variation of patients receiving MT during the epidemic period. Read More

Nat Commun 2020 May 13;11(1):2388. Epub 2020 May 13.

Dynamics and Pathophysiology of Neuronal Networks Team, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR7241/INSERM U1050, MemoLife Labex, 75005, Paris, France.

Deep brain stimulation (DBS) of the subthalamic nucleus is a symptomatic treatment of Parkinson's disease but benefits only to a minority of patients due to stringent eligibility criteria. To investigate new targets for less invasive therapies, we aimed at elucidating key mechanisms supporting deep brain stimulation efficiency. Here, using in vivo electrophysiology, optogenetics, behavioral tasks and mathematical modeling, we found that subthalamic stimulation normalizes pathological hyperactivity of motor cortex pyramidal cells, while concurrently activating somatostatin and inhibiting parvalbumin interneurons. Read More

JAAD Case Rep 2020 May 30;6(5):457-461. Epub 2020 Apr 30.

Department of Dermatology, Oregon Health and Science University, Portland, Oregon.

Br J Dermatol 2020 Apr 13. Epub 2020 Apr 13.

University of Paris Est-Créteil, Créteil, France.

JAAD Case Rep 2020 Apr 26;6(4):334-336. Epub 2020 Mar 26.

Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, California.

Rheumatol Int 2020 Jan 3. Epub 2020 Jan 3.

Department of Pediatric Rheumatology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, 601 Children's Lane, Norfolk, VA, 23507, USA.

Dermatomyositis (DM) is a multi-system disease that results in chronic inflammation principally of the skin and striated muscle. Small blood vessel injury in the GI tract has been described in dermatomyositis, manifesting as bleeding, ulceration, pneumatosis intestinalis, and ultimately perforation. Recent histopathological studies have shown deposits in the capillaries of the skin, gastrointestinal tract, and brain of patients with dermatomyositis similar to that found in patients with Degos disease, suggesting these disease processes are closely related or represent varying degrees of severity on the same pathologic spectrum. Read More

Clin Dermatol 2019 Sep - Oct;37(5):561-579. Epub 2019 Jul 17.

Department of Dermatology, Temple University Lewis Katz School of Medicine, Philadelphia, Pennsylvania, USA.

White diseases are a heterogenous group characterized by hypopigmentation or depigmentation. Skin and eye color are determined by the number and size of melanosomes present. Melanin is produced by melanosomes in the melanocytes present within the epidermis of the skin, uvea, and retinal pigmented epithelium (RPE). Read More

Geriatr Psychol Neuropsychiatr Vieil 2019 Dec;17(4):395-404

Service de neurologie, Hôpital Avicenne, Hôpitaux Universitaires de Paris - Seine-Saint-Denis, Paris, Bobigny, France, Faculté de médecine, Université Paris 13, UFR SMBH 74, Bobigny, France, UMR CNRS 7241/Inserm U1050, Center for interdisciplinary research in biology (CIRB), Collège de France, Paris, France.

Movement disorders are frequent in the elderly, with various presentations and causes. We review the most frequent movement disorders encountered in the elderly. Their diagnosis, mainly based on clinical examination, is necessary due to their common occurrence and their impact on autonomy. Read More

BMJ Case Rep 2019 Dec 8;12(12). Epub 2019 Dec 8.

Pulmonary and Critical Care Medicine, Albany Medical Center Hospital, Albany, New York, USA.

This case demonstrates chronic fibrosing pleuritis, as a rare pulmonary aetiology for mortality in patients with Degos disease or malignant atrophic papulosis (MAP). Knowledge of this unusual complication will help physicians identify this entity early and provide appropriate treatment.Patients with MAP die from gastrointestinal and brain involvement within 2-3 years of diagnosis. Read More

Clin Cosmet Investig Dermatol 2019 7;12:815-822. Epub 2019 Nov 7.

Division of Dermatology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Degos disease is characterized by atrophic porcelain-white papules with peripheral erythema. Degos-like lesions have been reported in association with several connective tissue diseases (CTDs), mostly systemic lupus erythematosus (SLE), and rarely in dermatomyositis and systemic sclerosis. Herein, we report three cases of Degos-like lesions in CTDs. Read More

JAMA Dermatol 2019 Dec 4. Epub 2019 Dec 4.

Department of Dermatology, University Hospital of Besançon, Besançon, France.

Chest 2020 May 26;157(5):1158-1166. Epub 2019 Nov 26.

Sorbonne Université, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital La Pitié-Salpêtrière, Institut E3M, Service de Médecine Interne 2, Centre de Référence National Lupus Systémique, Syndrome des Anticorps Anti-phospholipides et Autres Maladies Auto-Immunes Systémiques Rares, Paris, France.

Background: The antiphospholipid syndrome (APS) is a systemic autoimmune disease defined by thrombotic events that can require ICU admission because of organ dysfunction related to macrovascular and/or microvascular thrombosis. Critically ill patients with thrombosis and APS were studied to gain insight into their prognoses and in-hospital mortality-associated factors.

Methods: This French national, multicenter, retrospective study included all patients with APS and any new thrombotic manifestations admitted to 24 ICUs (January 2000-September 2018). Read More

Ann Diagn Pathol 2020 Feb 23;44:151414. Epub 2019 Oct 23.

Weill Cornell Medicine, New York, United States of America.

The small guanosine triphosphatase Rho and its target Rho kinase are involved in a heterogeneous spectrum of cellular activities, many of which are integral to cytoskeletal organization. Furthermore, the Rho kinases result in NF kappa beta activation and hence the induction of various pro-inflammatory cytokines including TNF-alpha, IL-1B and IL-6. ROCK2 is a downstream protein, whose expression is indicative of Rho Kinase activation. Read More

Dermatopathology (Basel) 2019 Apr-Jun;6(2):153-156. Epub 2019 Jun 26.

Division of Dermatology, Faculty of Medicine and Health Sciences, Tygerberg Academic Hospital and Stellenbosch University, Cape Town, South Africa.

Dowling-Degos disease (DDD) is a rare genodermatosis primarily presenting with reticulated pigmentation of the flexures. Secondary features include comedones and atrophic scarring. We present a patient with histologically confirmed DDD whose predominant clinical finding was of comedones and scarring, with less prominent pigmentation, thus expanding the clinical spectrum of DDD. Read More

Pigment Cell Melanoma Res 2020 May 26;33(3):435-445. Epub 2019 Nov 26.

INSERM U1035, Bordeaux, France.

Human skin melanin pigmentation is regulated by systemic and local factors. According to the type of melanin produced by melanocytes, the transfer and degradation of melanosomes differ, thus accounting for most variations between ethnicities. We made the surprising observation that in a drastically changed environment, white and black phenotypes are reversible since Caucasian skin grafted onto nude mice can become black with all black phenotypic characteristics. Read More

J Dermatol 2020 Jan 20;47(1):e22-e23. Epub 2019 Oct 20.

Department of Internal Medicine, Besancon University Hospital, Besancon, France.

Am J Med Genet A 2019 12 30;179(12):2469-2473. Epub 2019 Sep 30.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

Appearance of mosaic disorders in thin Blaschko lines suggests that somatic mutations in keratinocyte precursors underlie their pathogenesis. Germline heterozygous mutations in POFUT1 gene cause Dowling-Degos disease (DDD), a skin disease that features flexural reticulated hyperpigmentation and follicular-based lesions. POFUT1 mosaicism has not been described to date. Read More

Indian Dermatol Online J 2019 Sep-Oct;10(5):587-590. Epub 2019 Aug 28.

Department of Skin and VD, SCB Medical College and Hospital, Cuttack, Odisha, India.

Dowling-Degos Disease is a rare, pigmentary disorder with variable presentations. The most common among them are hyperpigmented macules and reticulate pigmentary anomaly of flexures. Many other phenotypic variations of Dowling-Degos disease have been reported in literature. Read More

J Eur Acad Dermatol Venereol 2019 Oct;33 Suppl 6:32-33

Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Terracina, Italy.

Hidradenitis suppurativa (HS) is a chronic relapsing disorder of the apocrine gland affecting mainly areas subjected to friction (e.g. the axillae, groin, perineum and medial aspects of the thighs). Read More

J Neurol Sci 2019 Nov 9;406:116454. Epub 2019 Sep 9.

Service de Neurologie, Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris 13, 93000 Bobigny, France; Dynamics and Pathophysiology of Neuronal Networks Team, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR7241/INSERM U1050, MemoLife Labex, 75005 Paris, France.

Introduction: Diagnosis of Parkinson's disease (PD) is mainly based on clinical features. Accurate neurological examination is required but dopamine transporter (DaT) single photon emission computed tomography (SPECT) could be perfomed to support the diagnosis in ambiguous cases. The aim of this work is to describe the characteristics of patients with a prolonged PD misdiagnosis. Read More

J Neuropsychiatry Clin Neurosci 2020 30;32(1):4-13. Epub 2019 Aug 30.

Neurology Unit, Avicenne University Hospital, Hôpitaux Universitaires de Paris-Seine Saint Denis, Bobigny, France (Ambar Akkaoui, Degos, Garcin); Dynamics and Pathophysiology of Neuronal Networks Team, Center for Interdisciplinary Research in Biology, Collège de France, Paris (Degos); the Department of Psychiatry and Addictive Medicine, Assistance Publique-Hôpitaux de Paris (AP-HP), University Hospital Bichat-Claude Bernard, and Paris Diderot University, Paris (Geoffroy); the Department of Neurology, Salpêtrière Hospital, AP-HP, Paris (Roze); and Brain and Spine Institute, Faculty of Medicine of Sorbonne University, Paris (Roze, Garcin).

Objective: Whereas functional symptoms are common in Parkinson's disease (PD), a parkinsonian syndrome may occasionally reflect a pure functional disorder (also named functional parkinsonism [FP]). This review aimed to decipher these entities to clarify the link between functional manifestations and PD.

Methods: Following the PRISMA guidelines, the authors performed a systematic literature search of the PubMed and Science Direct databases for the period 1988 to December 2018 to identify studies of patients with either FP or PD associated with functional neurological symptoms. Read More

Am J Dermatopathol 2020 Jul;42(7):484-490

Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia.

Galli-Galli disease (GGD) is a rare genodermatoses within the group of reticulated pigmentary disorders of the skin. Traditionally, its clinical presentation is identical to that of Dowling-Degos disease (DDD), with the additional feature of acantholysis on histopathological examination. We have reviewed the published cases of GGD to provide further support for the hypothesis that in fact, 2 phenotypes of GGD exist: the characteristic flexural GGD associated with KRT5 mutations and a disseminated variant with no mutation identified to date. Read More

Australas J Dermatol 2020 Feb 20;61(1):e114-e116. Epub 2019 Aug 20.

Department of Dermatology, Cleveland Clinic, Cleveland, Ohio, USA.

Parkinsonism Relat Disord 2019 09 10;66:202-206. Epub 2019 Jul 10.

Sorbonne Université, Assistance Publique Hôpitaux de Paris, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS UMR 7225, Department of Neurology, Hôpital Pitié-Salpêtrière, F-75013, Paris, France. Electronic address:

Background: Progressive supranuclear palsy (PSP) is a rare parkinsonian syndrome with a wide spectrum of clinical presentations. Recently, the MDS published revised diagnosis criteria to provide early and reliable diagnosis of PSP and its variants. Two large randomized clinical trials were initiated in 2017, but the question remains regarding the extrapolation of their results to the general PSP population. Read More

Br J Dermatol 2019 12 22;181(6):1312-1314. Epub 2019 Aug 22.

Department of Dermatology, University of Cologne, Cologne, Germany.

G Ital Dermatol Venereol 2019 Jun 12. Epub 2019 Jun 12.

Dermatology Unit, Second University of Naples, Naples, Italy.

Neurol Sci 2019 Oct 10;40(10):2201-2203. Epub 2019 Jun 10.

Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Caserta, Italy.

Acta Derm Venereol 2019 09;99(10):917-918

Department of Dermatology, Hospital Universitari Parc Tauli, Universitat Autonoma de Barcelona, ES-08230 Matadepera, Spain.

Front Immunol 2019 26;10:877. Epub 2019 Apr 26.

Tumor Immunology Team, IBISA Immunomonitoring Platform, Cancer Research Center of Marseillle, INSERM U1068, CNRS U7258, Institut Paoli-Calmettes, Aix-Marseille University, Marseille, France.

Endometrial Cancer is the most common cancer in the female genital tract in developed countries, and with its increasing incidence due to risk factors such as aging and obesity tends to become a public health issue. However, its immune environment has been less characterized than in other tumors such as breast cancers. NK cells are cytotoxic innate lymphoid cells that are considered as a major anti-tumoral effector cell type which function is drastically altered in tumors which participates to tumor progression. Read More

Clin Exp Dermatol 2020 Mar 3;45(2):232-234. Epub 2019 May 3.

St John's Institute of Dermatology, London, UK.

Hum Mutat 2019 10 17;40(10):1713-1730. Epub 2019 May 17.

Institut Curie, PSL Research University, INSERM U830, Paris, France.

Ataxia-telangiectasia (A-T) is a recessive disorder caused by biallelic pathogenic variants of ataxia-telangiectasia mutated (ATM). This disease is characterized by progressive ataxia, telangiectasia, immune deficiency, predisposition to malignancies, and radiosensitivity. However, hypomorphic variants may be discovered associated with very atypical phenotypes, raising the importance of evaluating their pathogenic effects. Read More

Parkinsonism Relat Disord 2019 07 25;64:226-234. Epub 2019 Apr 25.

Sorbonne Université, Assistance Publique Hôpitaux de Paris, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS UMR 7225, Department of Neurology, Hôpital Pitié-Salpêtrière, F-75013, Paris, France; Center for Interdisciplinary Research in Biology, Collège de France, INSERM U1050, CNRS UMR7241, Labex Memolife, Paris Sciences et Lettres, Paris, France; AP-HP, Department of Neurology, Hôpital Avicenne, Hôpitaux Universitaires de Paris - Seine Saint Denis, Bobigny, France. Electronic address:

Introduction: Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's. The French clinical research network for PD (NS-Park) has created a national patient registry to i)report medical activity of Parkinson Expert Centers (PECs) to the Ministry of Health, ii)facilitate PD patients pre-screening for clinical trials, iii) provide a source for pharmaco-epidemiology studies.

Objective: Assess the French Parkinsonian population at a nation-wide level and discover new clinical characteristics. Read More

Australas J Dermatol 2019 Nov 3;60(4):320-322. Epub 2019 Apr 3.

The Skin Hospital, Sydney, New South Wales, Australia.

Acta Derm Venereol 2019 Jun;99(7):711-712

Department of Dermatology and Venereology, Geneva University Hospitals, 1205 Geneva, Switzerland.

J Eur Acad Dermatol Venereol 2019 06 7;33(6):e232-e233. Epub 2019 Mar 7.

Department of Dermatology, Erasmus Medical Centre, Rotterdam, The Netherlands.

J Dermatol Sci 2019 Feb 15;93(2):75-81. Epub 2019 Jan 15.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan.

Dyschromatosis symmetrica hereditaria (DSH) and reticulate acropigmentation of Kitamura (RAK) are rare, inherited pigmentary diseases. DSH shows a mixture of pigmented and depigmented macules on the extremities. RAK shows reticulated, slightly depressed pigmented macules on the extremities. Read More

Clin Exp Dermatol 2019 Dec 21;44(8):921-923. Epub 2019 Jan 21.

Dermatology Unit, Catholic University of Sacred Heart, Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy.

J Psychosom Res 2019 01 12;116:10-16. Epub 2018 Nov 12.

Brain and Spine Institute, UPMC UMRS 1127, INSERM U1127, CNRS UMR 7225, Paris, France; Department of Neurology, Avicenne University Hospital, Paris - Seine Saint-Denis University Hospitals, Bobigny, France.

Objective: Patients with functional movement disorders (FMD) often report a disability and psychiatric comorbidities. However, few studies have compared these aspects in FMD and in organic movement disorders (OMD). The objectives were to compare QoL and psychiatric comorbidities of FMD and OMD patients. Read More

Acta Derm Venereol 2019 Apr;99(4):458-459

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

Am J Dermatopathol 2019 Jan;41(1):70

Department of Dermatology, Boston University School of Medicine, Boston, MA.

J Dermatol 2019 Feb 18;46(2):149-153. Epub 2018 Dec 18.

Department of Dermatology, Hospital of Sabadell, Corporació Sanitària Parc Taulí, Autonomous University of Barcelona, Barcelona, Spain.

Some patients with hidradenitis suppurativa (HS) develop severe inflammatory lesions of the nape. Through a single-center, cross-sectional study with a total of 377 patients, we sought to compare patients with and without nape involvement, to determine whether disease severity is greater in these patients and to describe their clinical characteristics. Thirty patients (90% male) were identified as having nape involvement. Read More

G Ital Dermatol Venereol 2018 Dec;153(6):884-885

Department of Dermatology, Haseki Training and Research Hospital, Istanbul, Turkey.

Indian J Dermatol 2018 Nov-Dec;63(6):521-522

Department of Dermatology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.