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    68 results match your criteria Dermatologic Manifestations of Neurologic Disease

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    Sternoclavicular Arthritis as a Clinical Presentation for Lyme Disease.
    Pediatrics 2018 Apr;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

    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 Feb 14. 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

    Ophthalmological manifestations of Parry-Romberg syndrome.
    Surv Ophthalmol 2016 Nov - Dec;61(6):693-701. Epub 2016 Apr 1.
    Department of Ophthalmology, University of Cologne, Cologne, Germany.
    Parry-Romberg syndrome is a rare disease characterized by slowly progressive atrophy affecting facial subcutaneous tissues, including the underlying muscles and osteocartilaginous structures. Various periocular, ocular, and neuro-ophthalmological manifestations have been described in Parry-Romberg syndrome. The most common periocular disorders include enophthalmos, eyelid, and orbit alterations. Read More

    Acquired neurocutaneous disorders.
    Handb Clin Neurol 2015 ;132:29-73
    Department of Neurology, Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA. Electronic address:
    A variety of neurologic diseases have cutaneous manifestations. These may precede, coincide with, or follow the neurologic findings. An array of autoimmune, genetic, and environmental factors play a role in expression and severity of the neurologic burden in these conditions. Read More

    Dermatologic Manifestations in End-stage Renal Disease.
    Iran J Kidney Dis 2015 Sep;9(5):339-53
    Division of General Internal Medicine, Toronto General Hospital, University of Toronto, Toronto, Canada.
    End-stage renal disease (ESRD) is a rapidly growing global health problem within the past decades due to increased life expectancy, diabetes mellitus, hypertension, and vascular diseases. Since ESRD is not curable definitively, patients suffering from ESRD have a very low quality of life; therefore, symptomatic management is the cornerstone of medical treatment. Uremia affects almost all body organs, such as skin, through different mechanisms including biochemical, vascular, neurologic, immunologic, hematologic, endocrine, and electrolyte and volume balance disturbances. Read More

    Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis): Recent Advances and Future Challenges.
    Asia Pac J Ophthalmol (Phila) 2014 Nov-Dec;3(6):361-7
    From the *Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT; †Department of Ophthalmology, Mayo Clinic, Jacksonville, FL; and ‡Department of Ophthalmology, New York Eye and Ear Infirmary of Mount Sinai School of Medicine, New York, NY.
    Sturge-Weber syndrome (SWS) is a congenital, sporadically occurring, neurocutaneous syndrome that presents classically with port-wine stain, leptomeningeal angiomas, and glaucoma. The systemic implications of SWS are vast and involve not only ophthalmic manifestations but also dermatologic, neurologic, and oral manifestations. Neuroimaging, in particular, plays an important role in the diagnosis and management of this disease. Read More

    Lyme disease: a rigorous review of diagnostic criteria and treatment.
    J Autoimmun 2015 Feb 16;57:82-115. Epub 2014 Oct 16.
    Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis, Davis, CA 95616, USA. Electronic address:
    Lyme disease was originally identified in Lyme, Connecticut, based upon an unusual cluster of what appeared to be patients with juvenile rheumatoid arthritis. It was subsequently identified as a new clinical entity originally called Lyme arthritis based on the observation that arthritis was a major clinical feature. However, Lyme arthritis is now called Lyme disease based upon the understanding that the clinical features include not only arthritis, but also potential cardiac, dermatologic and neurologic findings. Read More

    Extraintestinal manifestations of Helicobacter pylori: a concise review.
    World J Gastroenterol 2014 Sep;20(34):11950-61
    Frank Wong, Erin Rayner-Hartley, Michael F Byrne, Division of Gastroenterology, University of British Columbia, Vancouver, BC V5Z 1M9, Canada.
    Helicobacter pylori (H. pylori) infection has been clearly linked to peptic ulcer disease and some gastrointestinal malignancies. Increasing evidence demonstrates possible associations to disease states in other organ systems, known as the extraintestinal manifestations of H. Read More

    Behçet's disease in India: a dermatological perspective.
    Indian J Dermatol Venereol Leprol 2013 Mar-Apr;79(2):199-204
    Department of Dermatology and STD, University College of Medical Sciences and GTB Hospital, University of Delhi, Delhi, India.
    Background: Behcet's disease (BD) is a chronic, recurrent, multi-system inflammatory disorder involving mucocutaneous (MC), ocular, intestinal, articular, vascular, urogenital and neurologic systems. BD occurs with a high prevalence in the Mediterranean population. There is scarcity of clinical data on BD from India with only three case series in the last two decades. Read More

    Lyme borreliosis: an update for Canadian dermatologists.
    J Cutan Med Surg 2013 Jan-Feb;17(1):13-21
    Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
    Background: Lyme borreliosis is a multisystemic tick-borne spirochetosis, which may result in dermatologic, musculoskeletal, cardiovascular, and neurologic manifestations.

    Objective: Patients with suspected acute Lyme borreliosis infection may be referred for urgent dermatologic review. Canadian dermatologists should be aware of the latest information regarding the diagnosis and management of Lyme borreliosis. Read More

    Dermatologic manifestations of ataxia-telangiectasia syndrome.
    J Am Acad Dermatol 2013 Jun 27;68(6):932-6. Epub 2013 Jan 27.
    Department of Dermatology, Sheba Medical Center, Ramat Gan, Israel.
    Background: Previous reports on the cutaneous manifestations of ataxia-telangiectasia (A-T) have relied on data from small series, in patients not genetically tested for A-T.

    Objective: The aim of our study was to characterize the dermatologic manifestations in patients with A-T followed up at the national A-T clinic in Israel.

    Methods: This retrospective cross-sectional study included 32 patients followed up at a multidisciplinary A-T clinic from 2010 to 2012. Read More

    Acute myelitis in a patient with vogt-koyanagi-harada disease: case report and review of the literature.
    J Clin Neurol 2013 Jan 3;9(1):61-4. Epub 2013 Jan 3.
    Department of Neurology and Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
    Background: Vogt-Koyanagi-Harada (VKH) disease is characterized by bilateral granulomatous uveitis with neurologic, auditory, and dermatologic manifestations. However, acute myelitis complicating VKH disease has rarely been reported.

    Case Report: A 50-year-old Chinese Han woman presented with difficulty walking, numbness on the left side of the body, and difficulty with urination. Read More

    Bilateral drug (ipilimumab)-induced vitritis, choroiditis, and serous retinal detachments suggestive of vogt-koyanagi-harada syndrome.
    Retin Cases Brief Rep 2012 ;6(4):423-6
    Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, Connecticut.
    Purpose: To report a case of bilateral drug (ipilimumab)-induced vitritis, choroiditis, and serous retinal detachments suggestive of Vogt-Koyanagi-Harada syndrome.

    Methods: This is a single case report.

    Results: A 43-year-old woman with metastatic melanoma reported a 1-day history of blurry vision after starting a phase 1 clinical trial of ipilimumab, a cytotoxic T lymphocyte-associated antigen 4 blocker, 2 weeks before presentation. Read More

    [Severe forms of chikungunya virus infection in a pediatric intensive care unit on Reunion Island].
    Med Trop (Mars) 2012 Mar;72 Spec No:88-93
    Service de Réanimation Néonatale et Pédiatrique, CHR Félix Guyon, 97405 Saint-Denis, La Réunion.
    Unlabelled: In 2005-2006, an unexpected, massive outbreak of chikungunya occurred on Reunion Island, a French overseas territory in the Indian Ocean. This arboviral infection transmitted by a mosquito of the Aedes genus is usually benign. A surprising feature of the Reunion Island epidemic was the occurrence of rare severe forms involving adults as well as children. Read More

    Blood pressure, proteinuria and nephropathy in Fabry disease.
    Nephron Clin Pract 2011 11;118(1):c43-8. Epub 2010 Nov 11.
    Department of Internal Medicine, University of Alabama, 1530 3rd Avenue South, Tuscaloosa, AL 34294, USA.
    Background/aims: Fabry disease is an X-linked disorder leading to abnormal accumulation of glycosphingolipids with multisystem involvement, including cardiac, renal, dermatologic and neurologic manifestations. Fabry nephropathy, specifically proteinuria and progressive chronic kidney disease, have taken center stage over the past decade, defining disease outcomes as well as mortality associated with Fabry disease. Systemic blood pressure among patients with Fabry disease is relatively low, compared to other forms of proteinuric chronic kidney disease. Read More

    Hepatitis C virus as a multifaceted disease: a simple and updated approach for extrahepatic manifestations of hepatitis C virus infection.
    Hepat Mon 2010 1;10(4):258-69. Epub 2010 Dec 1.
    Department of Internal Medicine, Minia University, Minia, Egypt.
    Hepatitis C virus infection is an emerging disease and a public health problem in the world. There are accumulating data regarding extra hepatic manifestation of HCV, such as rheumatologic manifestations, endocrine, hematologic, dermatologic, renal, neurologic, and systemic manifestations. The therapy of them needs more attention to some exacerbations of extra hepatic manifestation and in some situation it needs different approaches. Read More

    Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report.
    J Med Case Rep 2009 Nov 10;3:116. Epub 2009 Nov 10.
    Department of Bioscience and Oral Diagnosis, São José dos Campos Dental School, São Paulo State University-UNESP, São José dos Campos-SP, Brazil.
    Introduction: Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disease that mainly affects the skin, eyes, hair, central nervous system and teeth. The disease is predominant among women. Although dermatologic manifestations are among the most important aspects for the diagnosis of the syndrome, they are less damaging to the patient and do not require treatment. Read More

    A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.
    Int J Dermatol 2009 Apr;48(4):388-92
    Department of Dermatology, Peking University First and Third Hospital, Beijing and He Ping Hospital, Chang Zhi Medical College, Changzhi, China.
    Background: Hartnup disease is a rare autosomal-recessive abnormality of renal and gastrointestinal neutral amino acid transport associated with neurologic, psychiatric, and dermatologic symptoms. Mutations in the SLC6A19 gene have been proposed to be responsible for the underlying changes in this disorder.

    Aim: To investigate a pedigree with Hartnup disorder and to search for the mutation in the SLC6A19 gene in this pedigree. Read More

    Rendu-Osler-Weber Syndrome: case report and literature review.
    Braz J Otorhinolaryngol 2008 May-Jun;74(3):452-7
    Faculdade de Medicina de Marília, Brazil.
    Hereditary Hemorrhagic Telangiectasia or Rendu-Osler-Weber Disease is a rare fibrovascular dysplasia that makes vascular walls vulnerable to trauma and rupture, causing skin and mucosa bleeding. It is of dominant autosomal inheritance, characterized by recurrent epistaxis and telangiectasia on the face, hands and oral cavity; visceral arteriovenous malformations and positive family history. Epistaxis is often the first and foremost manifestation. Read More

    Clinical signs and concurrent diseases of hypothyroidism in dogs and cats.
    Vet Clin North Am Small Anim Pract 2007 Jul;37(4):709-22, vi
    Department of Veterinary Clinical Sciences, School of Veterinary Medicine, Purdue University, VCS/LYNN, 625 Harrison Street, West Lafayette, IN 47907-2026, USA.
    Canine hypothyroidism may present with a wide range of clinical signs. The most common clinical signs are those of a decreased metabolic rate and dermatologic manifestations; however, many other clinical signs have been associated with hypothyroidism. There is strong evidence for a causal relation between hypothyroidism and a variety of neurologic abnormalities; however, the association between hypothyroidism and other manifestations, such as reproductive dysfunction, clinical heart disease, and behavioral abnormalities, is less compelling. Read More

    Symptomatic and virological response to antiviral therapy in hepatitis C associated with extrahepatic complications of cryoglobulimia.
    Dig Dis Sci 2007 Sep 6;52(9):2410-7. Epub 2007 Apr 6.
    Department of Medicine, Toronto Western Hospital, University Health Network, 399 Bathurst Street, Toronto, Ontario M5T 2S8, USA.
    Mixed cryoglobulins are detected in 50% of patients with hepatitis C; fortunately, few have vasculitis affecting skin, peripheral nerves, kidneys, and synovia. This study was designed to identify the natural history of symptomatic cryoglobulinemia and evaluate the response to antiviral therapy. Patients with hepatitis C complicated by symptomatic cryoglobulinemia were assessed for their disease manifestations and response to antiviral therapy. Read More

    Preparation and purification of recombinant outer surface protein A (rOspA) of Borrelia burgdorferi sensu stricto and Borrelia afzelii.
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2005 Dec;149(2):257-9
    Department of Immunology, Palacký University, Olomouc, Czech Republic.
    The recombinant Outer surface protein A (rOspA) from Borrelia burgdorferi is a possible immunogen for protection of infected humans and animals against development of Lyme borreliosis (Lyme disease), a chronic tick-borne disease characterised by diverse dermatologic, neurologic, rheumatic, and cardiac manifestations. For several years, research and development have been directed towards a vaccine for the prevention of this debilitating disease. Numerous animal studies demonstrate that pre-existing antibodies against the outer surface proteins of B. Read More

    Whipple's Disease.
    Curr Infect Dis Rep 2006 Mar;8(2):96-102
    Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke-University of Magdeburg, Leipziger Str. 44, D-39120 Magdeburg, Germany.
    Whipple's disease (WD) is a chronic debilitating disease caused by the bacillus Tropheryma whippleii. WD classically presents with the main clinical symptoms of polyarthralgias, chronic diarrhea, weight loss, and abdominal pain. Given its systemic involvement, it is common for WD to present with a multitude of other clinical scenarios--sometimes with predominant neurologic, cardiac, and dermatologic manifestations. Read More

    Mercury exposure: evaluation and intervention the inappropriate use of chelating agents in the diagnosis and treatment of putative mercury poisoning.
    Neurotoxicology 2005 Aug;26(4):691-9
    Agency for Toxic Substances and Disease Registry, Division of Toxicology (F-32), 1600 Clifton Road, Atlanta, GA 30333, USA.
    Public awareness of the potential for mercury to cause health problems has increased dramatically in the last 15 years. It is now widely recognized that significant exposure to all forms of mercury (elemental/metallic and both inorganic and organic compounds) can result in a variety of adverse health effects, including neurological, renal, respiratory, immune, dermatologic, reproductive, and developmental sequellae. And while the various media have made the general population cognizant of the need to avoid unnecessary exposure to this naturally occurring element, there has also evolved a growing tendency to attribute unexplainable neurologic, as well as other, signs and symptoms to mercury, whether or not significant exposure to mercury has actually occurred. Read More

    Diagnostic traps in porphyria: case report and literature review.
    Rev Med Chir Soc Med Nat Iasi 2004 Jul-Sep;108(3):584-91
    Carol Davila University of Medicine and Pharmacy Bucureşti, School of Medicine, Department of Endocrinology.
    Porphyrias are metabolic disorders of heme biosynthesis, which encompass a broad range of symptoms and signs, neurologic, cutaneous or mixed. Because of lack of specificity and polymorphous clinical picture, porphyrias can mimic either neuropsychiatric, dermatologic, or gastrointestinal diseases. We present the case of a 58 years old man to whom clinical presentation suspicious of Addison's disease (melanoderma, fatigue, weight loss, intermittent abdominal pain) was the disguise of porphyria cutanea tarda. Read More

    Intraocular inflammation in autoimmune diseases.
    Semin Arthritis Rheum 2004 Dec;34(3):602-9
    Department of Ophthalmology, Sapir Medical Center, Israel.
    Background: The uveal tract represents the vascular organ of the eye. In addition to providing most of the blood supply to the intraocular structures, it acts as a conduit for immune cells, particularly lymphocytes, to enter the eye. Consequently, the uveal tract is represented in many intraocular inflammatory processes. Read More

    Mycoplasma pneumoniae infection presenting as neutropenia, thrombocytopenia, and acute hepatitis in a child.
    J Microbiol Immunol Infect 2004 Apr;37(2):128-30
    Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, No. 325 Cheng-Kung Road, Section 2, Neihu, Taipei, Taiwan 114, ROC.
    Extrapulmonary manifestations of Mycoplasma pneumoniae pneumonia are uncommon and include hematologic, gastrointestinal, musculoskeletal, dermatologic, and neurologic complications. We report a case of serologically-confirmed M. pneumoniae infection complicated by severe neutropenia, thrombocytopenia, and hepatitis. Read More

    Scleromyxedema in a patient with multiple sclerosis and monoclonal gammopathy on interferon beta-1a.
    Mult Scler 2004 Feb;10(1):85-6
    Department of Neurology, Mayo Medical and Graduate Schools, Rochester, MN 55905, USA.
    Background: Animal studies have shown that some human monoclonal antibodies promote myelin repair in models of demyelinating disease. Scleromyxedema is a dermatologic disorder associated with a monoclonal gammopathy and neurologic manifestations. The reason for occurrence of cutaneous reactions in interferon treated patients is unknown. Read More

    Multicolor karyotyping and clinicopathological analysis of three intravascular lymphoma cases.
    Mod Pathol 2003 Jul;16(7):716-24
    Leukemia/BMT Program of British Columbia, Vancouver, British Columbia, Canada.
    Intravascular lymphoma (IVL) is a rare neoplastic disease characterized by the presence of large malignant lymphoid cells in small vessels. It is often diagnosed at autopsy. Clinical manifestations are typically neurologic and dermatologic. Read More

    Surgical management of the cutaneous manifestations of linear nevus sebaceus syndrome.
    Plast Reconstr Surg 2003 Mar;111(3):1043-50
    Department of Pediatric Plastic and Reconstructive Surgery, Northwestern University Medical School, Children's Memorial Medical Center, 2300 Children's Plaza, Chicago, IL 60614, USA.
    Linear nevus sebaceus syndrome is characterized by the association of nevus sebaceus covering extensive areas on the head and scalp with abnormalities of the central nervous system, ophthalmologic and skeletal changes, and malignancies. The incidence is approximately one per 10,000 live births, and there is no sexual predilection reported. The original description of this syndrome was followed by extensive literature describing the dermatologic, neurologic, and ophthalmologic manifestations of this disease. Read More

    Clinical spectrum of Behçet's disease.
    J Dermatol 2001 Nov;28(11):610-3
    Department of Dermatology, Yonsei University College of Medicine, Seoul, Korea.
    Behçet's disease is a chronic systemic inflammatory disease involving mucous membranes, skin, eyes, the gastrointestinal tract, joints, blood vessels, and the neurologic system. Behçet's disease occurs endemically in the Middle East and Mediterranean regions. It is also distributed in the Central and Far Eastern Asian countries including Korea, Japan, and China. Read More

    Inner ear malformations and hearing loss in linear nevus sebaceous syndrome.
    Int J Pediatr Otorhinolaryngol 2000 Dec;56(3):211-6
    Department of Otolaryngology - Head and Neck Surgery, Neurotology and Skull Base Surgery and Laboratory of Molecular Otology, Epstein Laboratories, University of California, San Francisco 94143-0342, USA.
    Objective: Linear nevus sebaceous syndrome (LNSS) is a rare disorder comprising of nevus sebaceous, seizures, and mental retardation. While extensive literature describe the dermatologic, neurologic, as well as ophthalmologic manifestations of this LNSS, otologic problems have not been previously described. The objective of this report is to describe the otologic manifestation of a patient with LNSS. Read More

    The Porphyrias.
    Curr Treat Options Gastroenterol 2000 Dec;3(6):487-500
    Departments of Medicine and Biochemistry and Molecular Biology, Division of Digestive Disease and Nutrition, and The Center for Study of Disorders of Iron and Porphyria Metabolism, University of Massachusetts Medical School, 55 Lake Avenue North, Room S6-737, Worcester, MA 01655-0001, USA.
    The porphyrias are a diverse group of metabolic diseases. Major manifestations are episodic neurovisceral attacks of pain or other neurologic features, and/or dermatologic abnormalities. It is essential that a clear diagnosis be established prior to planning management. Read More

    Acute and chronic herpes zoster. An ancient scourge yields to timely therapy.
    Postgrad Med 2000 Jun;107(7):107-8, 113-4, 117-8
    University of Southern California School of Medicine, Los Angeles, USA.
    With the US population aging steadily, herpes zoster represents a growing contributor to diminished quality of life. Dermatologic manifestations appear as immunity declines with age but rarely pose a significant threat, except in instances when ocular structures are involved. Pain is of more concern, because it usually accompanies and may even precede and persist after acute eruptions. Read More

    Positive IgG Western blot for Borrelia burgdorferi in Colombia.
    Mem Inst Oswaldo Cruz 1999 Jul-Aug;94(4):499-503
    Centro Internacional de Entrenamiento e Investigaciones Médicas (Cideim), Cali, Colombia.
    In order to evaluate the presence of specific IgG antibodies to Borrelia burgdorferi in patients with clinical manifestations associated with Lyme borreliosis in Cali, Colombia, 20 serum samples from patients with dermatologic signs, one cerebrospinal fluid (CSF) sample from a patient with chronic neurologic and arthritic manifestations, and twelve serum samples from individuals without clinical signs associated with Lyme borreliosis were analyzed by IgG Western blot. The results were interpreted following the recommendations of the Centers for Diseases Control and Prevention (CDC) for IgG Western blots. Four samples fulfilled the CDC criteria: two serum specimens from patients with morphea (localized scleroderma), the CSF from the patient with neurologic and arthritic manifestations, and one of the controls. Read More

    Lyme disease prevention and vaccine prophylaxis.
    Ann Pharmacother 1999 Jun;33(6):723-9
    School of Pharmacy, University of Wisconsin-Madison 53706, USA.
    Objective: To provide a comprehensive review of the epidemiology, diagnosis, and prevention of Lyme disease with a focus on the Lyme disease vaccine.

    Data Source: A computerized search of MEDLINE (January 1996-December 1998) was used to identify articles regarding Lyme disease, Borrelia burgdorferi, epidemiology, prevention, and vaccine.

    Data Synthesis: Lyme disease is a condition caused by infection with B. Read More

    Searching for Lyme disease in Colombia: a preliminary study on the vector.
    J Med Entomol 1998 May;35(3):324-6
    Faculty of Sciences, Department of Microbiology, University of Javeriana, Bogota D.C., Colombia.
    Lyme disease is an infectious multisystemic illness with dermatologic, neurologic, cardiac, and rheumatic manifestations. A total of 4,355 ticks was collected in Colombia, of which 2,805 were identified as Ixodes spp. The midgut contents of 2,600 specimens were fixed on microscope slides and examined by an indirect immunofluorescence assay (IFA) using monoclonal antibodies, anti-ospA H5332, and anti-flagellin 9724. Read More

    Pearls in neurodermatology.
    Semin Neurol 1998 ;18(2):243-55
    Department of Dermatology, Indiana University School of Medicine, Indianapolis, USA.
    Many diseases present with both neurologic and dermatologic manifestations. Eight such clinical cases are presented, along with clinical photographs of the skin lesions, in the format of a self-evaluation. Each case is followed by a discussion and a brief review of the characteristic cutaneous and neurologic findings. Read More

    Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide.
    Amyloid 1998 Mar;5(1):55-66
    Department of Neurology, University of Helsinki, Finland.
    Gelsolin-related familial amyloidosis, Finnish type, occurs worldwide, most likely as a result of sporadic low-frequency mutations. Two mutations at nucleotide 654 in the gelsolin gene have been demonstrated, which result in a characteristic triad of ophthalmologic, neurologic and dermatologic manifestations distinct from other amyloidoses. Some phenotypic variation, particularly in the age of onset and severity of manifestations, occurs but in general the disease is clinically rather homogeneous. Read More

    Immunodeficiency as a component of recognizable syndromes.
    Am J Med Genet 1996 Dec;66(4):378-98
    Department of Pediatrics, Children's Hospital of Los Angeles, California, USA.
    Immunodeficiency occurs in numerous genetic syndromes. While it is the dominant manifestation in primary immunodeficiencies, immune deficits may also be seen in a variety of other recognizable syndromes. Immunodeficiency has been reported in 64 such conditions, adding to the 45 recognized primary immunodeficiencies. Read More

    Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.
    Arch Dermatol 1996 Oct;132(10):1219-22
    Department of Dermatology, University General Hospital, Valencia, Spain.
    Background: Angiokeratoma corporis diffusum (ACD) was at one time thought to be synonymous with Anderson-Fabry disease. However, it is well known that widespread angiokeratomas may also be found in other lysosomal enzyme disorders, as well as in patients with normal enzyme activities. beta-Mannosidase deficiency was first described in humans in 1986; since then, only 11 cases of beta-mannosidase deficiency, which occurred in 8 families, have been reported. Read More

    [Epidemiologic and clinical characteristics of Lyme borreliosis in northeastern Poland].
    Pol Tyg Lek 1996 Jun;51(23-26):326-8, 330
    Kliniki Obserwacyjno-Zakaźnej AM w Białymstoku.
    Lyme borreliosis (LB) caused the tick-borne spirochete B. burgdorferi, is associated with a wide variety of manifestations including dermatologic, rheumatologic, neurologic and cardiac abnormalities, that can differ from one region to another. To define clinical picture of LB in Poland, particularly in north-eastern region, we studied in 46 patients. Read More

    [Benign cutaneous lymphocytoma of the breast areola and Erythema chronicum migrans: a pathognomonic association of Lyme disease].
    Arch Pediatr 1995 Apr;2(4):343-6
    Unité de dermatologie pédiatrique, hôpital Pellegrin-Enfants, Bordeaux, France.
    Background: Clinical manifestations of Lyme disease are mainly cutaneous, neurologic, cardiac and/or located joints. Some dermatologic manifestations are more specific.

    Case Report: An eight year-old-girl was examined because she suffered from a nodular lesion located on the left breast areola which appeared 3 months earlier. Read More

    Immune thrombocytopenia and elemental mercury poisoning.
    J Toxicol Clin Toxicol 1995 ;33(5):449-55
    Department of Preventive Medicine and Environmental Health, University of Iowa, Iowa City 52242-1100, USA.
    Three cases of severe mercury toxicity occurring within a family are reported. Two cases of thrombocytopenia occurred in this family and represent the second such report in the literature of an association between elemental mercury toxicity and thrombocytopenia. Three of the children presented with a combination of dermatologic and neurologic manifestations reminiscent of acrodynia or pink disease. Read More

    Effects of adequate versus inadequate treatment of cutaneous manifestations of Lyme borreliosis on the incidence of late complications and late serologic status.
    J Invest Dermatol 1993 Feb;100(2):103-9
    Department of Dermatology, University of Innsbruck Medical School, Austria.
    Eighty-two patients who were treated at the Department of Dermatology, Innsbruck, Austria, from 1980 to 1987 for cutaneous manifestations of Lyme disease were subjected to a clinical follow-up investigation aimed at detecting dermatologic, neurologic, and internal late complications of borreliosis. Only 54 of these patients had received adequate antibiotic treatment according to current standards. Also, their sera were investigated for the presence of immunoglobulin G (IgG) and IgM Borrelia burgdorferi antibodies by an indirect immunofluorescence assay, three different enzyme-linked immunosorbent assays, and immunoblotting. Read More

    Miscellaneous neurologic, cardiac, pulmonary, and metabolic disorders with rheumatic manifestations.
    Curr Opin Rheumatol 1993 Jan;5(1):104-10
    Centre for Rheumatic Diseases, Royal Infirmary, Glasgow, Scotland, UK.
    Problems both old and new are featured in this year's selection of rheumatologic aspects of miscellaneous diseases. Paralysis of one or more limbs can lead to many musculoskeletal complications, and the approach of Auguste Dejerine-Klumpke in 1918 can be compared with that of the present-day physician. The reappearance of rheumatic fever continues to excite interest. Read More

    Variations in clinical features of the Vogt-Koyanagi-Harada syndrome.
    Retina 1991 ;11(3):275-80
    Department of Ophthalmology, University of Southern California School of Medicine.
    Forty-eight cases of the Vogt-Koyanagi-Harada (VKH) syndrome occurring in patients residing in southern California were reviewed. Thirty-six patients were Hispanic and 12 of other racial groups. Symptoms of meningismus, predominantly headache, were present in 32 (67%) cases, but the other characteristic neurologic symptoms, i. Read More

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