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NPJ Parkinsons Dis 2021 Jun 11;7(1):50. Epub 2021 Jun 11.

Neurology Department, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.

Long-term effects of continuous subcutaneous apomorphine infusion (CSAI) on health-related quality of life (HRQoL) and predictors of CSAI discontinuation are poorly known. Data from consecutive advanced Parkinson's disease patients treated in routine care were retrospectively collected over 24 months after CSAI initiation, with a focus on the 39-item Parkinson's disease questionnaire (PDQ-39). We determined predictors of CSAI discontinuation and HRQoL improvement using multiple regression analysis. Read More

Am J Gastroenterol 2021 May 26. Epub 2021 May 26.

Department of Radiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, PRC; Key Laboratory of the Ministry of Education for Experimental Teratology, Department of Histology and Embryology, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, PRC.

Cells 2021 May 25;10(6). Epub 2021 May 25.

Department of Tumor Biology, Moffitt Cancer Center, Tampa, FL 33602, USA.

Alterations in genes encoding for proteins that control fucosylation are known to play causative roles in several developmental disorders, such as Dowling-Degos disease 2 and congenital disorder of glycosylation type IIc (CDGIIc). Recent studies have provided evidence that changes in fucosylation can contribute to the development and progression of several different types of cancers. It is therefore important to gain a detailed understanding of how fucosylation is altered in disease states so that interventions may be developed for therapeutic purposes. Read More

Orphanet J Rare Dis 2021 May 6;16(1):203. Epub 2021 May 6.

Department of Dermatology, The Hospital for Sick Children, Toronto, ON, Canada.

Background: Degos disease is a rare vascular disorder with a cutaneous-limited form, benign atrophic papulosis (BAP), and a systemic variant, malignant atrophic papulosis (MAP). Despite the poor prognosis of MAP, no study has established features associated with systemic disease.

Objectives: The aims of this systematic review were to: (1) summarize clinical features and treatments implemented for patients with MAP and BAP (2) identify clinical and laboratory factors associated with the development of MAP, compared to BAP. Read More

J Eur Acad Dermatol Venereol 2021 Apr 29. Epub 2021 Apr 29.

Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

Degos disease (atrophic papulosis) is a rare vasculopathy with cutaneous and systemic manifestations. Although potentially fatal, the characteristics of and treatments for Degos disease variants are not adequately described. We conducted a systematic review to summarize cutaneous and systemic presentations, treatments and outcomes of malignant (MAP) and benign (BAP) variants of Degos disease. Read More

Indian J Dermatol 2021 Jan-Feb;66(1):100-101

Department of Dermatology, Venereology and Leprosy King George's Medical University (KGMU), Lucknow, Uttar Pradesh, India E-mail:

Indian Dermatol Online J 2021 Jan-Feb;12(1):147-149. Epub 2020 Sep 28.

Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.

Hidradenitis suppurativa is a chronic relapsing disease with multiple abscesses, nodules, and scars in the apocrine bearing areas. Dowling-Degos is a rare autosomal dominant genodermatosis characterized by multiple hyperpigmented macules or papules in reticulate pattern, affecting mainly the flexures. We report a case of coexisting hidradenitis suppurativa and Dowling-Degos disease in a 31-year-old male in whom mutation analysis revealed a splice site mutation c. Read More

Int J Dermatol 2021 Mar 4. Epub 2021 Mar 4.

Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Cureus 2021 Jan 13;13(1):e12677. Epub 2021 Jan 13.

Pathology and Dermatology, University of Rochester School of Medicine and Dentistry, Rochester, USA.

Degos disease is a rare vasculopathy characterized by skin papules with central porcelain white atrophy and a surrounding telangiectatic rim. Etiology of this condition is unknown. There are benign and systemic forms of the disease, and the latter may lead to fatality. Read More

Int J Mol Sci 2021 Feb 3;22(4). Epub 2021 Feb 3.

Department of Biological and Environmental Sciences, College of Arts and Sciences, University of Qatar, Doha 2713, Qatar.

The high volume of information produced in the age of omics was and still is an important step to understanding several pathological processes, providing the enlightenment of complex molecular networks and the identification of molecular targets associated with many diseases. Despite these remarkable scientific advances, the majority of the results are disconnected and divergent, making their use limited. Skin diseases with alterations in the Notch signaling pathway were extensively studied during the omics era. Read More

J Clin Aesthet Dermatol 2020 Dec 1;13(12):38-40. Epub 2020 Dec 1.

Ms. Meléndez González is with the Universidad Central del Caribe School of Medicine in Bayamon, Puerto Rico.

Galli-Galli disease (GGD) is a rare genodermatosis that is distinguished from Dowling-Degos disease (DDD) by the histologic finding of acantholysis. We present a case of a female patient with pruritic intertriginous plaques and history of hidradenitis suppurativa (HS). While reports exist associating DDD with HS, to our knowledge, GGD in association with HS has not been reported in recent literature. Read More

Proc (Bayl Univ Med Cent) 2020 Sep 14;34(1):111-113. Epub 2020 Sep 14.

Department of General Surgery, Baylor Scott and White Medical Center - Round Rock, Texas.

We present the case of a 57-year-old man with known cutaneous manifestations of malignant atrophic papulosis, also known as Köhlmeier-Degos disease, who developed an almost-fatal small bowel perforation following a parathyroidectomy. He required two surgical interventions during his initial hospitalization and was started on eculizumab. Despite these therapies, the patient developed recurrent bowel perforations and ultimately died. Read More

Cell Death Dis 2021 01 12;12(1):71. Epub 2021 Jan 12.

CAS Center for Excellence in Biotic Interactions, College of Life Science, University of Chinese Academy of Sciences, Beijing, 100049, China.

Protein O-glucosylation is a crucial form of O-glycosylation, which involves glucose (Glc) addition to a serine residue within a consensus sequence of epidermal growth factor epidermal growth factor (EGF)-like repeats found in several proteins, including Notch. Glc provides stability to EGF-like repeats, is required for S2 cleavage of Notch, and serves to regulate the trafficking of Notch, crumbs2, and Eyes shut proteins to the cell surface. Genetic and biochemical studies have shown a link between aberrant protein O-glucosylation and human diseases. Read More

Int J Dermatol 2020 Dec 23. Epub 2020 Dec 23.

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

Dowling-Degos disease is a rare autosomal dominant genodermatosis. It is characterized by acquired reticulate hyperpigmentation over the flexures, comedone-like follicular papules, and pitted perioral scars that usually develop during adulthood. Mutations in genes affecting melanosome transfer, and melanocyte and keratinocyte differentiation have been implicated in the pathogenesis of this disease. Read More

J Fam Pract 2020 12;69(10):E11-E13

Department of Family Medicine and Community Health, University of Wisconsin School of Medicine and Public Health, Madison, USA.

A diagnosis was arrived at by doing something that the patient's other doctors hadn't: perform a biopsy. Read More

Mol Aspects Med 2021 Jun 16;79:100938. Epub 2020 Dec 16.

Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, 315 Riverbend Road, Athens, GA, 30602, USA. Electronic address:

The Notch receptors are a family of transmembrane proteins that mediate direct cell-cell interactions and control numerous cell-fate specifications in humans. The extracellular domains of mammalian Notch proteins contain 29-36 tandem epidermal growth factor-like (EGF) repeats, most of which have O-linked glycan modifications: O-glucose added by POGLUT1, O-fucose added by POFUT1 and elongated by Fringe enzymes, and O-GlcNAc added by EOGT. The extracellular domain is also N-glycosylated. Read More

J Dermatol 2021 Apr 11;48(4):533-536. Epub 2020 Dec 11.

Division of Dermatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Cytomegalovirus causes a myriad of clinical features, potentially affecting any organ system, significantly increasing morbidity and even mortality. Vascular endothelial cell infection by cytomegalovirus has been implicated in the development of vasculopathy, possibly accounting for the clinical association between cytomegalovirus and vascular thrombosis. In contrast with visceral organ involvement, the cutaneous manifestations of cytomegalovirus are variable and rarely described. Read More

Stroke 2021 01 23;52(1):31-39. Epub 2020 Nov 23.

Interventional Neuroradiology Department, CHRU Colmar, France (F.B., P.A.L.).

Background And Purpose: Acute ischemic stroke and large vessel occlusion can be concurrent with the coronavirus disease 2019 (COVID-19) infection. Outcomes after mechanical thrombectomy (MT) for large vessel occlusion in patients with COVID-19 are substantially unknown. Our aim was to study early outcomes after MT in patients with COVID-19. Read More

Am J Med Genet A 2020 11 17;182(11):2662-2665. Epub 2020 Aug 17.

Department of Dermatology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.

Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis and it has been associated with hidradenitis suppurativa (HS). Deregulation of NOTCH pathway has been linked to the development of HS in DDD context (DDD-HS). However, molecular alterations in DDD-HS, including altered gene expression of NOTCH and downstream effectors that are involved in the follicular differentiation and inflammatory response, are poorly defined. Read More

Mov Disord 2021 02 2;36(2):460-470. Epub 2020 Nov 2.

Paris Brain Institute-ICM, INSERM U 1127, CNRS UMR 7225, Sorbonne Université, UMR S 1127, CNRS UMR 7225, Paris, France.

Background: Machine learning algorithms using magnetic resonance imaging (MRI) data can accurately discriminate parkinsonian syndromes. Validation in patients recruited in routine clinical practice is missing.

Objective: The aim of this study was to assess the accuracy of a machine learning algorithm trained on a research cohort and tested on an independent clinical replication cohort for the categorization of parkinsonian syndromes. Read More

J Med Case Rep 2020 Oct 29;14(1):204. Epub 2020 Oct 29.

Department of Pathology, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India.

Background: Degos disease is a very rare syndrome with multisystem vasculopathy of unknown cause. It can affect the skin, gastrointestinal tract, and central nervous system. However, other organs such as the kidney, lungs, pleura, and liver can also be involved. Read More

Actas Dermosifiliogr (Engl Ed) 2021 Feb 16;112(2):103-117. Epub 2020 Oct 16.

Servicio de Anatomía Patológica, Hospital Universitario de Cruces, Barakaldo, Vizcaya, España.

Vascular occlusion has multiple, diverse clinical manifestations, some of which can have grave consequences for patients. It also has a wide variety of causes, including thrombi, which we recently addressed in partI of this review. In this second part, we look at additional causes of vascular occlusion. Read More

Br J Dermatol 2021 02 19;184(2):375-376. Epub 2020 Oct 19.

University of Paris Est-Créteil, Créteil, France.

Br J Dermatol 2021 02 8;184(2):374. Epub 2020 Nov 8.

Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Robert Koch Straße 40, 37075, Göttingen, Germany.

Chin Med J (Engl) 2020 Oct;133(19):2383-2385

Department of Dermatology, the Union Hospital, Fujian Medical University, Fuzhou, Fujian 350001, China.

Front Neurol 2020 28;11:682. Epub 2020 Jul 28.

Sorbonne Université, Unité Mixte de Recherche (UMR) 1127, Paris, France.

, and are unequivocally associated with autosomal dominant Parkinson's disease (PD). We evaluated the prevalence of , and mutations and associated clinical features in a large French multi-center cohort of PD patients. Demographic and clinical data were collected for 1,805 index cases (592 with autosomal dominant inheritance and 1,213 isolated cases) since 1990. Read More

J Neurotrauma 2021 01 19;38(2):235-251. Epub 2020 Oct 19.

Department of Public Health, Erasmus MC-University Medical Center Rotterdam, Rotterdam, The Netherlands.

Traumatic brain injury (TBI) is a significant cause of disability, but little is known about sex and gender differences after TBI. We aimed to analyze the association between sex/gender, and the broad range of care pathways, treatment characteristics, and outcomes following mild and moderate/severe TBI. We performed mixed-effects regression analyses in the prospective multi-center Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) study, stratified for injury severity and age, and adjusted for baseline characteristics. Read More

Indian J Dermatol 2020 Jul-Aug;65(4):295-298

Department of Dermatology, Venereology and Leprosy, Government Medical College and Hospital, Nagpur, India.

A 30-year-old female patient presented with progressive reticulate pigmentation of the neck, upper chest, back, cubital fossa, and axillae since the age of 15 years. The patient also complained of recurrent multiple tender nodules and plaques associated with sinuses and pus discharge over the axillae, groins, and buttocks which healed with scarring for 4 years. There were multiple pitted scars and hyperpigmented macules over the perioral area and cheeks. Read More

Indian J Dermatol 2020 Jul-Aug;65(4):290-294

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

Dowling-Degos disease (DDD) is a late-onset genodermatosis characterized by hyperpigmented macules on the flexures along with scattered comedo-like lesions and pitted acneiform scars. Follicular Dowling-Degos is a rare type of DDD, with only two reports so far. It presents with follicular papules and comedo-like lesions predominantly on the face and trunk. Read More

Int J Dermatol 2021 Jan 6;60(1):e25-e27. Epub 2020 Aug 6.

Department of Dermatology, Lozano Blesa University Clinical Hospital, Zaragoza, Spain.