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Neurology 2018 Jun 20. Epub 2018 Jun 20.

From the Assistance Publique Hôpitaux de Paris (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.); Sorbonne Université (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.); INSERM (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.), Institut du cerveau et de la Moelle, Centre d'Investigation Clinique Neurosciences, NS-PARK/FCRIN Network; CNRS (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.); Departments of Neurology and Genetics (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.), Hôpital Pitié-Salpêtrière, Paris; CESP (F.A., A.E.), Faculte de médecine, Université Paris-Sud; Faculte de médecine (F.A., A.E.), UVSQ, Institut National de la Santé et de la Recherche Médicale, Université Paris-Saclay, Villejuif; University of Toulouse 3 (O.R., C.B.-C., F.O.-M), Centre Hospitalo-Universitaire de Toulouse and INSERM; Centre d'Investigation Clinique CIC1436 (O.R., C.B.-C., F.O.-M), NS-PARK/FCRIN Network, Départements de Neurosciences et de Pharmacologie Clinique, NeuroToul COEN Center, Toulouse; Department of Neurology (F.D., A.-R.M.), NS-PARK/FCRIN Network, Centre Hospitalo-Universitaire de Clermont-Ferrand; Department of Neurology (P.D.), NS-PARK/FCRIN Network, Centre Hospitalo-Universitaire de Nantes; Department of Neurology (F.B.), Hôpital Foch, Suresnes; Department of Neurology (J.-P.B.), Fondation Rothschild, Paris; Department of Neurology (F.P.), Centre Hospitalier de Versailles; Université Versailles Saint Quentin en Yvelines et Paris Saclay (F.P.), Versailles; Department of Neurology (V.M.), Centre Hospitalo-Universitaire Saint-Antoine, Paris, France; and Department of Health Care Management (P.-C.L.), College of Health Technology, National Taipei University of Nursing and Health Sciences, Taiwan.

Objective: To investigate the longitudinal dose-effect relationship between dopamine replacement therapy and impulse control disorders (ICDs) in Parkinson disease (PD).

Methods: We used data from a multicenter longitudinal cohort of consecutive patients with PD with ≤5 years' disease duration at baseline followed up annually up to 5 years. ICDs were evaluated during face-to-face semistructured interviews with movement disorder specialists. Read More

Clin Exp Dermatol 2018 May 24. Epub 2018 May 24.

Department of Dermatology, Peking University First Hospital, Beijing, China.

Sci Rep 2018 May 16;8(1):7637. Epub 2018 May 16.

Institute of Neuroscience (IONS), Cognition and Systems (COSY), Université catholique de Louvain, Avenue Mounier 53 bte B1.53.04 1200, Brussels, Belgium.

In a rapidly changing environment, we often know when to do something before we have to do it. This preparation in the temporal domain is based on a 'perception' of elapsed time and short-term memory of previous stimulation in a similar context. These functions could be perturbed in Parkinson's disease. Read More

Tremor Other Hyperkinet Mov (N Y) 2018 18;8:554. Epub 2018 Apr 18.

Sorbonne Universités, UPMC-Paris 6, UMR S 1127, ICM, Paris, France.

Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset.

Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome.

Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood. Read More

Pediatrics 2018 Apr;141(Suppl 5):S481-S484

Departments of Pediatrics and

Malignant atrophic papulosis (MAP), also known as Degos disease, is an extremely rare disease that is characterized by its unique skin presentation (namely, central, porcelain-white atrophic lesions with a telangiectatic rim). MAP has the following 2 variants: cutaneous MAP is manifested in the skin alone, whereas systemic MAP affects the gastrointestinal tract, central nervous system, lungs, and other internal organs. Some patients who presented with only cutaneous symptoms at first may develop systemic symptoms several years later. Read More

Indian J Dermatol Venereol Leprol 2018 May-Jun;84(3):344-346

Department of Dermatology, Sakhiya Skin Clinic, Surat, Gujarat, India.

J Eur Acad Dermatol Venereol 2018 Mar 23. Epub 2018 Mar 23.

INSERM UMR 1163, Imagine Institute, Université Paris Descartes - Sorbonne Paris Cité, France.

Dowling-Degos disease (DD) (OMIM: 179850, 615327, 615674, 615696) is a rare autosomal-dominant genetic disorder belonging to the spectrum of reticulated pigmented dermatitis(1). Galli-Galli disease is considered as being a variant of DD, harboring all clinical, histological and genetics features of DD in association with acantholysis (2). In 2006, exome sequencing revealed loss-of-function mutations in KRT5 (cytokeratin 5) (p. Read More

J Inherit Metab Dis 2018 Mar 20. Epub 2018 Mar 20.

Centre de Référence Neurométabolique Adulte, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

Background: Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease related to sterols metabolism. It affects both central and peripheral nervous systems but treatment with chenodeoxycholic acid (CDCA) has been reported to stabilize clinical scores and improve nerve conduction parameters. Few quantitative brain structural studies have been conducted to assess the effect of CDCA in CTX. Read More

J Dermatol 2018 Jun 8;45(6):723-726. Epub 2018 Mar 8.

Department of Critical Care Medicine, Chinese People's Liberation Army General Hospital, Beijing, China.

Malignant atrophic papulosis (MAP) is a rare type of obliterating vasculopathy that can present as pure cutaneous lesions or a systemic entity affecting multiple organs. Systemic disease, such as gastrointestinal or central nervous system involvement, may predispose the patients to poorer or even fatal outcomes. We present a 30-year-old female patient with systemic manifestation of MAP 10 days after delivery of a full-term pregnancy who subsequently developed motor aphasia and intestinal perforation. Read More

Glycobiology 2018 May;28(5):276-283

Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794-5215, USA.

Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes including defects in somitogenesis, cardiogenesis, vasculogenesis and neurogenesis, but the extent to which POFUT1 is required for normal human development is not yet understood. Read More

Br J Dermatol 2018 Feb;178(2):328

St John's Institute of Dermatology, King's College London, London, U.K.

Br J Dermatol 2018 Apr 15;178(4):984-986. Epub 2018 Feb 15.

Department of Dermatology, Alicante University General Hospital, Alicante Institute for Health and Biomedical Research (ISABIAL-FISABIO Foundation), Alicante, Spain.

Br J Dermatol 2018 Apr 2;178(4):986. Epub 2018 Mar 2.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

J Clin Neurosci 2018 Feb 26;48:114-117. Epub 2017 Nov 26.

Department of Radiology, the Royal Melbourne Hospital, Parkville, VIC, Australia; Department of Radiology, the University of Melbourne, Parkville, VIC, Australia.

Köhlmeier-Degos disease is rare idiopathic vasculopathy, the exact pathogenesis of which remains unclear. Here, we review pertinent literatutre and present a case of a Köhlmeier-Degos disease with central nervous system involvement followed-up over 11 years with various neuroimaging modalities. Evolution of neurovascular and neuropathological changes over an extended time period has not been previously described. Read More

Indian Dermatol Online J 2017 Nov-Dec;8(6):487-489

Department of Dermatology, Seth G. S. Medical College and K. E. M. Hospital, Mumbai, Maharashtra, India.

Indian J Dermatol Venereol Leprol 2018 Jan-Feb;84(1):70-72

Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India.

J Invest Dermatol 2018 May 11;138(5):1215-1218. Epub 2017 Nov 11.

Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

Parkinsonism Relat Disord 2018 Jan 19;46:9-15. Epub 2017 Oct 19.

Service de neurologie, CHU Clermont-Ferrand, Université Clermont Auvergne, Clermont-Ferrand, France. Electronic address:

Introduction: Plantar flexion of toe dystonia is very painful and leads to difficulties in walking. The objective of this study was to investigate the effect of incobotulinum toxin A (Xeomin) in the treatment of this type of dystonia in parkinsonian patients, using a randomized, double blind, placebo-controlled trial.

Methods: 45 parkinsonian patients with painful dystonic plantar flexion of toes were injected either with incobotulinum toxin A (Btx group), or with placebo in two muscle targets: the Flexor digitorum longus and the Flexor digitorum brevis. Read More

Ann Dermatol Venereol 2017 Dec 31;144(12):825-826. Epub 2017 Oct 31.

Unité Inserm U1058, département de dermatologie, hôpital Saint-Éloi, université Montpellier I, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address:

Pathology 2017 Dec 31;49(7):798-801. Epub 2017 Oct 31.

Department of Nephrology, Monash Health, Melbourne, Australia; Centre for Inflammatory Diseases, Department of Medicine, Monash University, Clayton, Vic, Australia.

Br J Dermatol 2018 Feb 18;178(2):502-508. Epub 2017 Dec 18.

Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.

Background: Dowling-Degos disease (DDD), featuring reticulate pigmentation, and familial hidradenitis suppurativa (HS) share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The coexistence of the two disorders was recently found to result from mutations in PSENEN, encoding the γ-secretase subunit protein presenilin enhancer.

Objectives: To investigate PSENEN mutations in a series of four unrelated patients who presented with combined DDD and HS. Read More

G Ital Dermatol Venereol 2017 Dec 28;152(6):615-637. Epub 2017 Jul 28.

Department of Dermatology, de La Princesa University Hospital, Madrid, Spain.

Most emergencies in dermatology comprise a variety of entities with a usually benign course. However, vasculopathies and vasculitis are not common, but they could represent respectively 1.9% and 4. Read More

Parkinsonism Relat Disord 2017 Oct 23;43:110-113. 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

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

J Eur Acad Dermatol Venereol 2017 Nov 7;31(11):1809-1816. Epub 2017 Sep 7.

Department of Dermatology, Zealand University Hospital, Roskilde, Denmark.

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 aetiological factors in HS. Read More

Clin Exp Dermatol 2017 Oct 10;42(7):774-776. 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

J Eur Acad Dermatol Venereol 2018 Jan 29;32(1):e14-e15. Epub 2017 Aug 29.

Institute of Dermatology, Chinese Academy of Medical Sciences, 12 Jiangwangmiao Road, Nanjing, 210042, China.

J Invest Dermatol 2017 Oct 8;137(10):2234-2236. Epub 2017 Jun 8.

Department of Dermatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Beijing, China. Electronic address:

J Eur Acad Dermatol Venereol 2017 Oct 20;31(10):1753-1756. Epub 2017 Jun 20.

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

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

J Cutan Aesthet Surg 2017 Jan-Mar;10(1):60-62

La'Mer Clinic, Mumbai, Maharashtra, India.

Int J Dermatol 2017 Jul 25;56(7):770-772. Epub 2017 Apr 25.

Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Br J Dermatol 2017 Oct 27;177(4):945-959. Epub 2017 Sep 27.

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 hyper- 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, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, there is a large degree of overlap between the disorders and therefore they are difficult to differentiate in the clinical setting. Read More

J Neuroophthalmol 2017 09;37(3):303-308

Departments of Ophthalmology (AAT, JJC, JAL), Radiology (LJE), and Pathology (DRS), Mayo Clinic, Rochester, Minnesota.

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

J Eur Acad Dermatol Venereol 2017 Oct 4;31(10):e435-e438. Epub 2017 May 4.

Department of Dermatology, University Hospital of Salamanca, Salamanca, Spain.

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

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

Am J Dermatopathol 2018 Apr;40(4):272-274

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

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

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

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

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

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

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

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

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

Brain Behav Immun 2017 Jul 4;63:197-209. Epub 2016 Nov 4.

PROTECT, INSERM, Unversité Paris Diderot, Sorbonne Paris Cité, Paris, France; PremUP, Paris, France; Department of Perinatal Imaging and Health, Department of Division of Imaging Sciences and Biomedical Engineering, King's College London, King's Health Partners, St. Thomas' Hospital, London SE1 7EH, United Kingdom. Electronic address:

The cognitive and behavioural deficits caused by traumatic brain injury (TBI) to the immature brain are more severe and persistent than TBI in the mature brain. Understanding this developmental sensitivity is critical as children under four years of age sustain TBI more frequently than any other age group. Microglia (MG), resident immune cells of the brain that mediate neuroinflammation, are activated following TBI in the immature brain. Read More

Clin Exp Dermatol 2016 Dec 26;41(8):948-950. Epub 2016 Oct 26.

Department of Dermatology, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.