Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence.

With an incidence of 1 in 700 births, Down syndrome (DS) is not an uncommon condition. It is associated with various disorders of different organ systems. Serious disorders include cardiac defects and leukemia.

Management of antiphospholipid syndrome.

Antiphospholipid syndrome, also known as 'Hughes Syndrome', is an autoimmune disease characterised by a set of clinical manifestations, almost all of which are direct or indirect sequelae of a hypercoagulable state involving the venous, and to a lesser extent the arterial vasculature. The incidence and prevalence of antiphospholipid syndrome are estimated at approximately 5 de novo cases per 100 000 per year and 40-50 cases per 100 000 individuals, respectively. The clinical spectrum of antiphospholipid syndrome involves haematological (thrombocytopaenia, venous thrombosis), obstetrical (recurrent pregnancy loss), neurological (stroke, transient ischaemic attack, migraine, seizures, cognitive dysfunction, chorea, transverse myelitis, multiple sclerosis), cardiovascular (cardiac valve disease), dermatological (livedo reticularis and racemosa, skin ulceration and necrosis), renal (glomerulonephritis, renal thrombotic microangiopathy) and orthopaedic (avascular necrosis of bones, non-traumatic fractures) manifestations, among others.

Cutaneous Complications in Recipients of Lung Transplants: A Pictorial Review.

Lung transplant is now an established modality for a broad spectrum of end-stage pulmonary diseases. According to the International Society for Heart and Lung Transplantation Registry, more than 50,000 lung transplants have been performed worldwide, with nearly 11,000 recipients of lung transplants alive in the United States. With the increasing use of lung transplant, pulmonologists must be cognizant of the common as well as the unique posttransplant dermatologic complications.

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Background: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder.

Case Presentation: This study is the first report of the coexistence of Noonan (NS) and Incontinentia Pigmenti (IP) syndromes in the same patient.

Sex-Specific Cardiovascular Comorbidities with Associations in Dermatologic and Rheumatic Disorders.

Cardiology, dermatology, and rheumatology form a fascinating triad. Many skin and joint disorders are associated with cardiovascular comorbidities because they share etiologic elements. Female predominance is often remarkable and likely related to autoimmune pathology.

Severe localised granulomatosis with polyangiitis (Wegener's granulomatosis) manifesting with extensive cranial nerve palsies and cranial diabetes insipidus: a case report and literature review.

Background: Granulomatosis with polyangiitis (GPA, formerly Wegener's granulomatosis) is a multisystem vasculitis of small- to medium-sized blood vessels. Cranial involvement can result in cranial nerve palsies and, rarely, pituitary infiltration.

Case Presentation: We describe the case of a 32 year-old woman with limited but severe GPA manifesting as progressive cranial nerve palsies and pituitary dysfunction.

Diagnostic and management of life-threatening Adult-Onset Still Disease: a French nationwide multicenter study and systematic literature review.

Background: Adult-onset Still disease (AOSD) is a rare systemic inflammatory disorder. A few patients develop organ complications that can be life-threatening. Our objectives were to describe the disease course and phenotype of life-threatening AOSD, including response to therapy and long-term outcome.

Sternoclavicular Arthritis as a Clinical Presentation for Lyme Disease.

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.

Primary systemic amyloidosis with skin and cardiac involvement: a case report.

Primary systemic amyloidosis is characterized by the deposition of insoluble monoclonal immunoglobulin light chains in various tissues and is usually associated with an underlying plasma cell dyscrasia. In the early stage of the disease, dermatological findings can be the only manifestation, as opposed to organ involvement in the later stages. A dermatologist can diagnose amyloidosis early with a skin biopsy stained with Congo red dye and other appropriate investigations.

Dermatological manifestations in hemodialysis patients in Iran: A systematic review and meta-analysis.

Background: Dermatologic complications are common in patients with end-stage renal disease and also have a high diversity.

Objectives: This meta-analysis reviews prevalence of dermatological manifestations among hemodialysis patients in Iran.

Materials And Methods: Using PubMed and NLM Gateway (for MEDLINE), Institute of Scientific Information (ISI), and SCOPUS as the main international electronic data sources, and Iran-Medex, Irandoc, and Scientific Information Database, as the main domestic databases with systematic search capability, we systematically searched surveys, papers, and reports on the prevalence of dermatological manifestations (until February 2016).

Protection by dimethyl fumarate against diabetic cardiomyopathy in type 1 diabetic mice likely via activation of nuclear factor erythroid-2 related factor 2.

Oxidative stress and inflammation play key roles in the development of diabetic cardiomyopathy (DCM). Dimethyl fumarate (DMF), an FDA approved medicine for relapsing multiple sclerosis, has manifested its antioxidant and anti-inflammatory function mostly in the central nervous system. In this study, we investigated whether DMF could attenuate the development of DCM.

Human polyomavirus-7-associated eruption successfully treated with acitretin.

Advances in molecular technologies have led to the discovery of several novel human polyomaviruses (HPyVs), including human polyomavirus-7 (HPyV-7). Although low levels of HPyV-7 are shed from apparently normal skin, recent reports have described clinically significant cutaneous infection in immunocompromised patients that manifests as generalized pruritic plaques. The pruritus can be severe, and treatment options have not been described.

The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab.

Background: The immune abnormalities underlying the ichthyoses are poorly understood.

Objective: To determine the immunophenotype of an ichthyosis resulting from mutations in the spectrin repeat 6 (SR6) domain of desmoplakin gene (DSP) and target therapy on the basis of molecular pathogenesis.

Methods: Immunophenotyping was performed by using the blood and skin of a girl with SR6 region DSP mutations causing erythroderma/ichthyosis and cardiomyopathy.

Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement.

Polyostotic sclerosing histiocytosis, also known as Erdheim-Chester disease (ECD), is a rare form of non-Langerhans histiocytosis. ECD has wide clinical spectrums which mainly affect skeletal, neurological, dermatological, retroperitoneal, cardiac, and pulmonary manifestations. Here we describe a case of ECD in a 45-year-old female who presented initially with bilateral knee pain and homonymous superior quadrantanopia progressed to ophthalmoplegia and complete visual loss of the left eye over a period of one year.

Bilateral ocular ischemia-induced blindness as a presenting manifestation of Takayasu arteritis: a case report.

Background: Takayasu arteritis is a granulomatous panarteritis that predominantly affects the aorta and its major branches. The initial manifestations of this large-vessel vasculitis are usually nonspecific; however, as the disease progresses, typical symptoms of arterial occlusion, aneurysmal formation, and vascular pain become evident. Ischemic ocular complications of Takayasu arteritis which could lead to complete loss of vision are not uncommon and depend on the obliterated portion(s) of carotid(s), the intensity and rate of progression of ocular vascular insufficiency, and sufficiency of the collateral blood supply to the eye.

[Analysis of 12 cases of exogenous lipoid pneumonia confirmed by pathology].

To study the etiological, clinical, radiological, diagnostic, therapeutic, and prognostic manifestations of exogenous lipoid pneumonia (ELP), and therefore to improve the diagnosis and treatment of this disease. The clinical data of 12 cases of ELP confirmed by pathology were retrospectively analyzed. The patients consisted of 9 males and 3 females, with an average age of 73.

Beyond the Bowel: Extraintestinal Manifestations of Inflammatory Bowel Disease.

Inflammatory bowel disease (IBD) is a chronic, relapsing immune-mediated inflammation of the gastrointestinal tract. IBD includes two major disease entities: Crohn disease and ulcerative colitis. Imaging plays an important role in the diagnosis and surveillance of these complex disorders.

Dietary factors in rheumatic autoimmune diseases: a recipe for therapy?

Today, we are facing a new era of digitization in the health care system, and with increased access to health care information has come a growing demand for safe, cost-effective and easy to administer therapies. Dietary habits have a crucial influence on human health, affecting an individual's risk for hypertension, heart disease and stroke, as well as influencing the risk of developing of cancer. Moreover, an individual's lifestyle choices can greatly influence the progression and manifestation of chronic autoimmune rheumatic diseases.

[Takayasu's disease in an IgG4-positive patient with tuberculosis, pulmonary hemorrhage, recurrent myocarditis, and transient bilateral visual impairments].

Takayasu's disease (nonspecific aortoarteritis) affects the absolute majority of 20-40-year-old women; its most common manifestations include aortic arch branch lesions. The specific features of the described case is the male gender of the patient, signs of mesenchymal dysplasia, a concurrence of tuberculosis, pulmonary hemorrhage, and myocarditis at onset, the presence of IgG4, peculiar ocular symptomatology, and its rapid regression after initiation of therapy.

Dermatologic manifestations of infective endocarditis.

Despite advances in diagnosis and treatment, infective endocarditis still shows considerable morbidity and mortality rates. The dermatological examination in patients with suspected infective endocarditis may prove very useful, as it might reveal suggestive abnormalities of this disease, such as Osler's nodes and Janeway lesions. Osler's nodes are painful, purple nodular lesions, usually found on the tips of fingers and toes.

[Clinical and genetic study patients with tuberous sclerosis complex].

Unlabelled: Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2.

Objective: To characterize clinically and genetically patients diagnosed with TSC.

Patients And Method: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them.

Lyme Arrhythmia in an Avid Golfer: A Diagnostic Challenge and a Therapeutic Dilemma.

Lyme disease is a multisystem disorder affecting dermatologic, cardiac, nervous and musculoskeletal systems. Cardiac manifestations occur in about 5% of Lyme infections and stem from the involvement of the cardiac conduction system, resulting in varying degrees of sino-atrioventricular block. Occasionally, Lyme infection may also present with myopericarditis.