115 results match your criteria Dermatologic Manifestations of Neurologic Disease

Porphyria: awareness is the key to diagnosis!

Acta Clin Belg 2021 May 3:1-7. Epub 2021 May 3.

Department of General Internal Medicine, KU Leuven, Leuven, Belgium.

Porphyrias are disorders of the haem biosynthesis which are encountered infrequently and which often present themselves atypically as a combination of gastrointestinal, neurologic and/or dermatologic symptoms. Although they are primarily caused by enzyme defects, inheritance patterns are mostly not evident. Considering all of these characteristics, it is not surprising that there is a long delay between the onset of symptoms and the diagnosis of the disease, with as possible consequences impaired quality of life, irreversible neurologic damage and even death. Read More

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[The 487th case: prominent eyes, headache, blurred vision].

Zhonghua Nei Ke Za Zhi 2021 Apr;60(4):388-392

Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education,China National Clinical Research Center for Dermatologic and Immunologic Disease, Beijing 100730,China.

One 51 years old man was admitted to the rheumatology department with a history of prominent eyes, headache and blurred vision for half year. The main manifestations included retrobulbar inflammatory pseudotumor and retroperitoneal fibrosis. He was initially diagnosed as granulomatosis with polyangiitis. Read More

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Lyme Disease Pathogenesis.

Curr Issues Mol Biol 2021 23;42:473-518. Epub 2020 Dec 23.

Professor and Associate Head, Texas A and M University, 8447 Riverside Pkwy, Bryan, TX 77807, USA.

Lyme disease are obligately parasitic, tick- transmitted, invasive, persistent bacterial pathogens that cause disease in humans and non-reservoir vertebrates primarily through the induction of inflammation. During transmission from the infected tick, the bacteria undergo significant changes in gene expression, resulting in adaptation to the mammalian environment. The organisms multiply and spread locally and induce inflammatory responses that, in humans, result in clinical signs and symptoms. Read More

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December 2020

Extra-Gastric Manifestations of Infection.

J Clin Med 2020 Nov 30;9(12). Epub 2020 Nov 30.

Hepatogastroenterology Division, Department of Precision Medicine, University of Campania Luigi Vanvitelli, via Pansini 5, 80131 Naples, Italy.

() is a Gram-negative flagellated microorganism that has been extensively studied since its first isolation due to its widespread diffusion and association with numerous diseases. While the bacterium is proved to be a causative factor for a number of gastric diseases such as gastritis, gastric adenocarcinoma, and MALT-lymphoma, its role at other gastrointestinal levels and in other systems is being thoroughly studied. In this article, we reviewed the latest published clinical and laboratory studies that investigated associations of with hematologic diseases such as Vitamin B12- and iron-deficiency anemia, primary immune thrombocytopenia, and with a number of dermatologic and ophthalmic diseases. Read More

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November 2020

Behçet's Disease: Different Systemic Manifestations at Different Ages.

Eurasian J Med 2020 Oct 2;52(3):304-306. Epub 2020 Jun 2.

Department of Pulmonary Disease, Ataturk University School of Medicine, Erzurum, Turkey.

Behçet's disease, an inflammatory condition, can involve various systems. The disease usually manifests with dermatologic and ocular signs but can also cause serious symptoms due to pulmonary or neurologic involvement. Although the onset may occur at any age, it typically emerges in the second to fourth decades of life. Read More

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October 2020

Multisystem Imaging Manifestations of COVID-19, Part 2: From Cardiac Complications to Pediatric Manifestations.

Radiographics 2020 Nov-Dec;40(7):1866-1892

From the Department of Radiology and Biomedical Imaging, Yale University School of Medicine, 333 Cedar St, PO Box 208042, Room TE-2, New Haven, CT 06520 (M.V.R., A.M., A.S.B.); Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, NY (S.R., R.W., C.D., R.D.P., K.C., C.K., J.S.P.); and Department of Diagnostic Radiology, Danbury Radiological Associates, PC, Danbury, Conn (N.C.S.).

Infection with severe acute respiratory syndrome coronavirus 2 results in coronavirus disease 2019 (COVID-19), which was declared an official pandemic by the World Health Organization on March 11, 2020. COVID-19 has been reported in most countries, and as of August 15, 2020, there have been over 21 million cases of COVID-19 reported worldwide, with over 800 000 COVID-19-associated deaths. Although COVID-19 predominantly affects the respiratory system, it has become apparent that many other organ systems can also be involved. Read More

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November 2020

Non-respiratory presentations of COVID-19, a clinical review.

Am J Emerg Med 2020 Nov 24;38(11):2444-2454. Epub 2020 Sep 24.

Department of Emergency Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, United States. Electronic address:

Introduction: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2 or COVID-19) is a highly infectious viral syndrome currently threatening millions of people worldwide. It is widely recognized as a disease of the pulmonary system, presenting with fever, cough, and shortness of breath. However, a number of extrapulmonary manifestations have been described in the literature. Read More

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November 2020

Multisystem Imaging Manifestations of COVID-19, Part 1: Viral Pathogenesis and Pulmonary and Vascular System Complications.

Radiographics 2020 10;40(6):1574-1599

From the Department of Radiology and Biomedical Imaging, Yale University School of Medicine, 333 Cedar St, PO Box 208042, Room TE-2, New Haven, CT 06520 (M.V.R., A.S.B., A.M.); Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, NY (S.R., R.W., C.D., R.D.P., K.C., C.K., J.S.P.); and Department of Diagnostic Radiology, Danbury Radiological Associates, PC, Danbury, Conn (N.C.S.).

Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) results in coronavirus disease 2019 (COVID-19), which was declared an official pandemic by the World Health Organization on March 11, 2020. The infection has been reported in most countries around the world. As of August 2020, there have been over 21 million cases of COVID-19 reported worldwide, with over 800 000 COVID-19-associated deaths. Read More

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October 2020

Neurofibromatosis -1 diagnosed from an intraoral swelling - a case series.

Aust Dent J 2020 Sep 29. Epub 2020 Sep 29.

Dublin Dental University Hospital, Dublin, Ireland.

The neurofibromatoses [NF 1, NF 2 and schwannomatosis] are a group of genetic disorders that lead to the development of nervous system tumours and have diverse dermatologic, neurologic, ophthalmic, skeletal and vascular effects. The most common is NF 1 (Neurofibromatosis 1) also known as von Recklinghausen's disease, which is one of the most common human genetic diseases. Oral manifestations of NF 1 are reported in 72% of cases and in one of our cases precipitated attendance at a general dental practitioner (GDP), subsequent diagnosis and genetic screening for family members. Read More

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September 2020

Extrapulmonary manifestations of COVID-19.

Nat Med 2020 07 10;26(7):1017-1032. Epub 2020 Jul 10.

Division of Nephrology, Department of Medicine, NewYork-Presbyterian/Columbia University Irving Medical Center, New York, NY, USA.

Although COVID-19 is most well known for causing substantial respiratory pathology, it can also result in several extrapulmonary manifestations. These conditions include thrombotic complications, myocardial dysfunction and arrhythmia, acute coronary syndromes, acute kidney injury, gastrointestinal symptoms, hepatocellular injury, hyperglycemia and ketosis, neurologic illnesses, ocular symptoms, and dermatologic complications. Given that ACE2, the entry receptor for the causative coronavirus SARS-CoV-2, is expressed in multiple extrapulmonary tissues, direct viral tissue damage is a plausible mechanism of injury. Read More

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Parry-Romberg Syndrome and Temporal Lobe Refractory Epilepsy: Case Report.

J Epilepsy Res 2019 Dec 31;9(2):157-160. Epub 2019 Dec 31.

Department of Neurosurgery, Carlos Ardila Lulle Medical Center, Santander, Colombia.

The Parry-Romberg syndrome (PRS), also known as hemifacial atrophy, is a rare neurocutaneous disease with the prevalence of 1/700,000 cases. It is more common in women than men, with an early onset of disease usually within the first two decades of life. Even though the etiology of PRS is unknown, it is thought to be a multifactorial disease that involves hereditary, posttraumatic, autoimmune, infectious, and neoplastic factors. Read More

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December 2019

Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease.

Ann Diagn Pathol 2020 Aug 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

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Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions.

Cell Rep 2020 05;31(6):107633

Sharjah Institute for Medical Research, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

Most monogenic disorders have a primary clinical presentation. Inherited ISG15 deficiency, however, has manifested with two distinct presentations to date: susceptibility to mycobacterial disease and intracranial calcifications from hypomorphic interferon-II (IFN-II) production and excessive IFN-I response, respectively. Accordingly, these patients were managed for their infectious and neurologic complications. Read More

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Dupilumab improves clinical manifestations, symptoms, and quality of life in adult patients with chronic nodular prurigo.

J Am Acad Dermatol 2020 Jul 27;83(1):39-45. Epub 2020 Mar 27.

Institute of Dermatology, Catholic University, Rome, Italy; Dermatology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Background: Chronic nodular prurigo (CNPG) is a multifactorial skin disease characterized by itchy papules and nodules, usually resistant to standard treatment and associated with markedly impaired quality of life.

Objective: To describe dupilumab effectiveness and tolerability in treating adult patients with CNPG refractory to both topical and systemic therapies.

Methods: Retrospective, multicenter study including adult patients affected by CNPG, who were treated with dupilumab for at least 16 weeks. Read More

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Pernio-Induced Toe Pain in the Setting of Onychocryptosis: A Case Report.

J Am Podiatr Med Assoc 2020 Jan;110(1):Article7

Pernio is an inflammatory condition of the skin associated with cold exposure. The dermatologic manifestations may vary, and this entity is frequently misdiagnosed. Its association with systemic disease underscores the importance of accurate diagnosis. Read More

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January 2020

Simultaneous squamous cell carcinoma and malignant melanoma of the conjunctiva in a teenager with xeroderma pigmentosum: Case report.

Indian J Ophthalmol 2019 07;67(7):1190-1192

Ocular Oncology Service, Department of Ophthalmology and Visual Sciences, Federal University of São Paulo, Rua Botucatu, 822, São Paulo, Brazil.

Xeroderma pigmentosum (XP) is an autosomal recessive disease with ophthalmic, dermatologic, and neurologic manifestations. Ophthalmological changes are described in up to 100% of XP patients. We report a young XP patient that presented with bilateral conjunctival masses. Read More

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Bilateral Cochlear Implantation in Vogt-Koyanagi-Harada Syndrome: A Case Report.

Otol Neurotol 2019 08;40(7):e694-e697

Department of Otolaryngology, Neurotology & Skull Base Surgery, King Saud University, Riyadh, Saudi Arabia.

Objective: To evaluate cochlear implantation in Vogt-Koyanagi-Harada syndrome with regard to surgical difficulties and hearing outcomes.

Patients: Single case report.

Intervention(s): Therapeutic complete electrode insertion during surgery despite evident intra-cochlear fibrosis. Read More

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Immune reconstitution inflammatory syndrome associated with secondary syphilis: dermatologic, neurologic and ophthalmologic compromise in an HIV patient.

Int J STD AIDS 2019 04 10;30(5):509-511. Epub 2019 Jan 10.

1 Servicio de Enfermedades Infecciosas y Tropicales. Hospital Nacional Dos de Mayo, Lima, Peru.

The presentation of syphilis as a manifestation of immune reconstitution inflammatory syndrome in patients with human immunodeficiency virus (HIV) infection is rare and can be associated with the varied clinical expression of unusual syphilitic manifestations. We report a case of immune reconstitution syndrome with dermatologic, ophthalmologic and neurologic compromise of secondary syphilis in a patient with HIV infection. Read More

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Protean Neurologic Manifestations of Two Rare Dermatologic Disorders: Sweet Disease and Localized Craniofacial Scleroderma.

Curr Neurol Neurosci Rep 2019 02 12;19(3):11. Epub 2019 Feb 12.

NYU Multiple Sclerosis Comprehensive Care Center, Department of Neurology, New York University School of Medicine, New York, NY, USA.

Purpose Of Review: To describe diverse neurologic and neuroradiologic presentations of two rare, immunologically mediated skin conditions: Sweet disease and localized scleroderma (morphea).

Recent Findings: Core syndromes of neuro-Sweet disease (NSD) are steroid responsiveness, recurrent meningitis, and encephalitis. Focal neurologic, neuro-vascular, and neuro-ophthalmologic syndromes have been reported recently in NSD. Read More

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February 2019

Ataxia-telangiectasia: A review of clinical features and molecular pathology.

Pediatr Allergy Immunol 2019 05 20;30(3):277-288. Epub 2019 Mar 20.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, Iran.

Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in ataxia-telangiectasia mutated (ATM) gene encoding a serine/threonine protein kinase. A-T patients represent a broad range of clinical manifestations including progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, susceptibility to malignancies, and increased metabolic diseases. This congenital disorder has phenotypic heterogeneity, and the severity of symptoms varies in different patients based on severity of mutations and disease progression. Read More

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Use of antiepileptic mood stabilizers in dermatology.

Clin Dermatol 2018 Nov - Dec;36(6):756-764. Epub 2018 Aug 16.

Department of Medicine, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Several antiepileptic drugs (AEDs) are approved by the US Food and Drug Administration for the treatment of bipolar disorder (valproic acid, divalproex, lamotrigine, carbamazepine) and some cutaneous neuropathic pain syndromes (carbamazepine, gabapentin, pregabalin). The AEDs may be effective in the management of (1) chronic pruritus, including pruritus due systemic disease, including uremia, neuropathic pain, neuropathic pruritus, and complex cutaneous sensory syndromes, especially where central nervous system (CNS) sensitization plays a role; (2) management of emotional dysregulation and the resultant repetitive self-excoriation or other cutaneous self-injury in patients who repetitively stimulate or manipulate their integument to regulate emotions (prurigo nodularis, lichen simplex chronicus, skin picking disorder, trichotillomania); (3) management of dermatologic clinical manifestations associated with autonomic nervous system activation (hyperhidrosis, urticaria, flushing; these often occur in conjunction with psychiatric disorders with prominent autonomic activation and dysregulation, eg, social anxiety disorder, posttraumatic stress disorder); and (4) when certain anticonvulsants have a direct therapeutic effect (eg, in psoriasis); currently the use of AEDs for such cases is largely experimental. Gabapentin (dosage range 300-3600 mg daily) is the most widely studied AED mood stabilizer in dermatology and is especially effective in situations where CNS sensitization is a mediating factor. Read More

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Concurrent notalgia paresthetica and brachioradial pruritus associated with cervical degenerative disc disease.

Cutis 2018 Sep;102(3):185;186;189;190

Department of Orthopedic Surgery, St. Jude Heritage Medical Group, Fullerton, California, USA.

Notalgia paresthetica (NP) is a common, often refractory sensory neuropathic syndrome with the hallmark symptoms of localized pruritus and dysesthesia of the unilateral infrascapular region. Brachioradial pruritus (BRP) is similarly classified as a localized pruritus syndrome but of the upper extremities, typically one or both forearms. Notalgia paresthetica and BRP are both generally chronic, nonlethal, incurable conditions with intermittent remissions and exacerbation. Read More

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September 2018

Incomplete Vogt-Koyanagi-Harada disease following treatment with encorafenib and binimetinib for metastatic melanoma.

Melanoma Res 2018 12;28(6):648-651

Department of Internal Medicine, Laikon General Hospital.

Ophthalmological complications constitute a class effect of treatment with BRAF inhibitors. Encorafenib is a new BRAF inhibitor currently being tested in phase 3 clinical trials for advanced or metastatic melanoma as monotherapy or in combination with the MEK-inhibitor binimetinib. In this study, we present a case of severe bilateral panuveitis and neurosensory hearing loss in an elderly patient treated with encorafenib and binimetinib for metastatic BRAF-mutant melanoma. Read More

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December 2018

Sternoclavicular Arthritis as a Clinical Presentation for Lyme Disease.

Pediatrics 2018 04;141(Suppl 5):S466-S469

Divisions of Pediatric Emergency Medicine.

Lyme disease is caused by and can lead to dermatologic, neurologic, cardiac, and musculoskeletal manifestations. The arthritis of Lyme disease is typically monoarticular, with the knee being most commonly involved. Lyme arthritis of small joints has not previously been well described. Read More

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Oral manifestations of lipoid proteinosis in a 10-year-old female: A case report and literature update.

Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Oct 14;126(4):e228-e232. Epub 2018 Feb 14.

Division of Oral and Maxillofacial Pathology, Columbia University College of Dental Medicine, New York, NY, USA. Electronic address:

Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. Here, we present a case of LP with significant oral, dermatologic, and neurologic manifestations occurring in a 10 year-old female of Asian descent. In addition to the more typical oral findings of restricted tongue movement and labial and buccal mucosal involvement, this case highlights an unusual pattern of gingival enlargement infrequently reported in the literature. Read More

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October 2018

Prevalence and factors associated with gluten sensitivity in inflammatory bowel disease.

Scand J Gastroenterol 2018 Feb 7;53(2):147-151. Epub 2017 Dec 7.

a Division of Gastroenterology & Hepatology , Stanford University School of Medicine , Stanford , CA , USA.

Objectives: Gluten sensitivity (GS) arises with celiac disease and has also been found in non-celiac disorders, although its characteristics in inflammatory bowel disease (IBD) are unclear. This study evaluated the prevalence of GS and factors associated with GS in IBD.

Methods: Adult IBD patients at a tertiary-care medical center completed a survey of their demographics, medical history, family history, social history and symptoms. Read More

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February 2018

Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

Arch Dermatol Res 2017 Dec 14;309(10):773-785. Epub 2017 Sep 14.

Department of Bioinformatics and Biotechnology, Maryum Block, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.

Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. Read More

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December 2017

Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.

Ann Saudi Med 2017 May-Jun;37(3):240-244

Lenah Alwatban, Department of Dermatology,, MBC 104, King Faisal Specialist Hospital and Research Centre,, PO Box 3354 Riyadh 11211,, Saudi Arabia, T: +966569450282 ORCID: http://orcid.org/0000-0002-0624-9910.

Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defective DNA repair that results in extreme sensitivity to ultraviolet (UV) rays. Depending on the type of XP, the disease may affect the skin, eyes and nervous system.

Objectives: Describe the dermatologic manifestations in patients suffering from XP. Read More

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