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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 Jan 21. Epub 2019 Jan 21.

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

J Psychosom Res 2019 Jan 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.

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.

J Invest Dermatol 2019 Apr 9;139(4):960-964. Epub 2018 Nov 9.

Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address:

G Ital Dermatol Venereol 2018 Oct 29. Epub 2018 Oct 29.

Dermatology Unit, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

Nat Commun 2018 10 8;9(1):4118. Epub 2018 Oct 8.

Center for Interdisciplinary Research in Biology, College de France, INSERM U1050, CNRS UMR 7241, Labex Memolife, 75005, Paris, France.

Dopamine modulates striatal synaptic plasticity, a key substrate for action selection and procedural learning. Thus, characterizing the repertoire of activity-dependent plasticity in striatum and its dependence on dopamine is of crucial importance. We recently unraveled a striatal spike-timing-dependent long-term potentiation (tLTP) mediated by endocannabinoids (eCBs) and induced with few spikes (~5-15). Read More

Lasers Surg Med 2019 Apr 3;51(4):321-324. Epub 2018 Oct 3.

Department of Dermatology, Venereology and Allergology, Universitätsklinikum Leipzig AöR, 04103, Leipzig, Germany.

Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis with limited treatment possibilities. Although the efficacy of ablative laser therapy has been reported, we sought to examine the efficacy of fractional versus full ablative laser therapy in a female patient with DDD in a split-side report. We treated the lesions on the right side of the patient's upper abdomen with an ablative fractional CO laser and the lesions on the left side of the upper abdomen with a full ablative Er:YAG laser (erbium-doped yttrium aluminium garnet laser) three times at monthly intervals. Read More

Hautarzt 2018 Oct;69(Suppl 1):34-36

Klinik und Poliklinik für Dermatologie und Allergologie, Ludwig-Maximilians-Universität München, Frauenlobstr. 9-11, 80337, München, Deutschland.

Acta Dermatovenerol Croat 2017 Dec;25(4):300-302

Dario Didona, MD, Prima Divisione Dermatologia Istituto Dermopatico dell'Immacolata, Via dei Monti di Creta 104, 00167 Rome , Italy;

Dear Editor, Reticulate pigmentary disorders (RPD) is a term used to classify a spectrum of several acquired and congenital disorders. Different clinical features can be present, including a reticular pattern and a freckle-like pattern with hyper- or hypo-pigmented macules (1). Dowling-Degos disease (DDD), an autosomal dominant genodermatosis, is the main type of RPD (2). Read More

J Echocardiogr 2018 12 4;16(4):192-193. Epub 2018 Jul 4.

Division of Cardiology, Department of Medicine, Albany Medical College, Albany, NY, 12208, USA.

Br J Dermatol 2018 Sep 19;179(3):795-796. Epub 2018 Jul 19.

Department of Dermatology, Venereology and Allergy, University Medical Center and Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.

Neurology 2018 Jul 20;91(3):e189-e201. 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 12 24;43(8):937-939. 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 04;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 Dec 31;32(12):e440-e442. Epub 2018 Jul 31.

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

J Inherit Metab Dis 2018 Sep 20;41(5):799-807. 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 05;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 02;178(2):328

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

Br J Dermatol 2018 04 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 04 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.

Br J Dermatol 2017 12 29;177(6):e340-e343. Epub 2017 Nov 29.

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

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 05 11;138(5):1215-1218. Epub 2017 Nov 11.

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

Parkinsonism Relat Disord 2018 01 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 02 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

Gastroenterology 2018 06 1;154(8):e1-e2. Epub 2017 Sep 1.

Department of Nuclear Medicine, Changhai Hospital, Second Military Medical University, Shanghai, China.

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

Am J Dermatopathol 2017 Sep;39(9):e137

Department of Dermatology, University of Florida College of Medicine, Gainesville, FL.

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

JAMA Dermatol 2017 11;153(11):1183-1184

Dermatology Service, Guillermo Grant Benavente Clinical Hospital, Concepción, Chile.

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 10 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