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2.1
Parana Hard-Skin Syndrome
Hard-Skin Syndrome Type Parana

Presentation

Fig. 1 a Mouth aspect at first clinical presentation. Note the severe atrophic tongue and bilateral angular cheilitis. b Panoramic radiograph taken at first clinical presentation. Note periapical lesions, caries and generalized bone loss. [karger.com]

According to Patel et al. 6, fever is present in 86% of the HIV/AIDS patients. [jordi.com.br]

The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike. [books.google.com]

The disease is present atbirth or develops early in infancy. In our patient theskin tightness was rst noticed at the age of 1 year byher parents.Two types of SSS have been dened. [myslide.es]

It presents as stone-hard areasof skin that areobserved frombirthor in early childhood.Its etiology is unknown. [docslide.net]

Entire Body System

  • Pain

    […] bruising syndrome, Painful fat syndrome, Painful leg & moving toes syndrome, Painful red leg syndrome, Pallister-Hall syndrome, Parana hard skin syndrome, Parinaud syndrome, Parkinson plus syndrome, Parrot syndrome, Parting of the Red Sea syndrome, Patellofemoral [acronymattic.com]

    Precautions for IBS patients Abdominal pain can restrict your ability to stretch into some poses. [artofliving.org]

    Syndrome Databases Parkinson Dementia Databases Parkinson Dementia Syndrome Databases Parkinson Disease 12 Databases Parkinsonism Alveolar Hypoventilation Mental Depression Databases Parotid Proline Rich Salivary Protein Pc Databases Paroxysmal Extreme Pain [vadlo.com]

    This cleared after months and now is in three spots of the chin that are painful and hard to hide. I describe it as `tiny shards of glass`. [medhelp.org]

    Symptoms include red or purple skin in the affected area, severe pain, fever, and vomiting. The most commonly … [checkrare.com]

  • Dentist

    All HCT recipients should receive a thorough evaluation by a dentist or oral medicine specialist at 1 year after HCT and yearly thereafter. More frequent dental consultations may be considered in patients with oral GVHD or Fanconi's anemia. [nature.com]

Jaw & Teeth

  • Xerostomia

    Pinto A: Management of xerostomia and other complications of Sjögren's syndrome. Oral Maxillofac Surg Clin North Am 2014;26:63-73. [karger.com]

    Medication lists should be reviewed to identify and eliminate any drugs that can cause or exacerbate xerostomia. [nature.com]

Cardiovascular

  • Hypertension

    Pulmonary hypertension was present in 57 (9.4%). Out of the total, 150 patients (24.8%) underwent cardiac surgery. [ncbi.nlm.nih.gov]

    The present pregnancy was complicated by pregnancy induced hypertension. Ultrasono-gram at 31 weeks of gestation revealed intrauterine growth retardation and polyhydramnios. [indianpediatrics.net]

    FAMILIAL PERSISTENT, OF THE NEWBORN 265400 : PULMONARY HYPERTENSION, PRIMARY 265430 : PULMONARY HYPOPLASIA 265450 : PULMONARY VENOOCCLUSIVE DISEASE 265500 : PULMONIC STENOSIS 265600 : PULMONIC STENOSIS AND CONGENITAL NEPHROSIS 265880 : PYKNOACHONDROGENESIS [www5.geometry.net]

    In children, hypertension is defined as readings greater than the 95th percentile for age, sex and height. [nature.com]

    Medication: hypertension medication, hormonal pessaries? Skin: Link to Psoriasis Lifestyle: Alcohol, paracetamol? You probably have high uric acid levels. Follow a low oxalate diet. It’s basically a form of all-over-body gout. Trust me. [medhelp.org]

Ears

  • Hearing Impairment

    VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome Related symptoms: Short stature Sensorineural hearing impairment Cataract Cognitive impairment Visual impairment SOURCES: MONDO NCIT SCTID UMLS ORPHANET ICD9 MESH More info about VOGT-KOYANAGI-HARADA [mendelian.co]

Musculoskeletal

  • Flexion Contracture

    Related symptoms: Short stature Flexion contracture Osteoporosis Coarse facial features Arthritis SOURCES: GARD SCTID UMLS OMIM MONDO More info about WINCHESTER SYNDROME; WNCHRS Low match NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD Nijmegen breakage [mendelian.co]

    Patients have flexion contractures of the extremities, low set malformed ears, micrognathia, hypertelorism, and a small fixed open mouth. Abnormalities of the hair and nails, linear skin splits, and ectropion are variably present. [thedoctorsdoctor.com]

    Posture was impaired, with an increase in thoracickyphosis and lumbar lordosis, the left shoulder lower than theright, and a mild flexion contracture of the knee and elbowjoints.Figure 2. [myslide.es]

    Posture was impaired, with an increase in thoracickyphosis and lumbar lordosis, the left shoulder lower than theright, and a mild flexion contracture of the knee and elbowjoints. Figure 2. [docslide.net]

  • Myalgia

    Ectopic Cushing syndrome, Ectopic hormonal syndrome, EEC syndrome, Ehlers-Danlos syndrome, Eisenmenger syndrome, Ellis-van Creveld syndrome, Emperor's New Clothes syndrome, Empty nest syndrome, Empty sella syndrome, Empty scrotum syndrome, Eosinophilic-myalgia [acronymattic.com]

    In April 2013 she was admitted to a local hospital with a history of fatigue, myalgia and anorexia. Her past medical history included coronary artery disease with revascularization 15 years before. There was no history of alcohol or drug abuse. [karger.com]

    Patients with muscle weakness, myalgias or arthralgias should be evaluated for possible chronic GVHD or steroid-associated myositis, and other muscular disorders (for example, myasthenia gravis). [nature.com]

  • Muscular Atrophy

    ATROPHY WITH MENTAL RETARDATION 271110 : SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY 271120 : SPINAL MUSCULAR ATROPHY, DISTAL 271150 : SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT TYPE 271200 : SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE [www5.geometry.net]

Eyes

  • Blurred Vision

    Symptoms include burning, irritation, pain, foreign body sensation, blurred vision, photophobia, and paradoxically, excessive tearing. [nature.com]

  • Visual Impairment

    VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome Related symptoms: Short stature Sensorineural hearing impairment Cataract Cognitive impairment Visual impairment SOURCES: MONDO NCIT SCTID UMLS ORPHANET ICD9 MESH More info about VOGT-KOYANAGI-HARADA [mendelian.co]

Skin

  • Skin Ulcer

    Early changes of lichen-planus–like or papulosquamous lesions may progress to sclerosis or poikiloderma and can be associated with skin ulcers and subsequent infections. [nature.com]

Neurologic

  • Irritability

    The nagging physical discomfort can make you tired, irritable and stressed. You can lose sleep too. Basically, it mars the quality of your life – physically and psychologically. IBS can occur at any age. [artofliving.org]

    Respiratory insufficiency Causes - Hard skin syndrome Parana type * Dry skin is a very common problem –Low humidity and cold temperatures make winter xerosis and “winter itch” common complaints –Mild xerosis can cause impaired skin barrier function and allow irritants [checkorphan.org]

    I do not advise that you pick on these by yourself as this may only cause skin infections and further irritation. If this is acne, refrain from touching the face. You may only irritate the skin and facilitate spread of bacteria. [medhelp.org]

    Impingement syndrome, Inactive residual extremity syndrome, Infant nephrotic syndrome, Influenza syndrome, Inspissated bile syndrome, Inspissated milk syndrome, Intermediate syndrome, Intersex syndrome, Intestinal knot syndrome, Irregular sleep-wake syndrome, Irritable [acronymattic.com]

    Adequate hydration and avoidance of potential oral mucosal irritants were recommended. The patient is under routine dental care that includes the use of fluoride preparations. [karger.com]

  • Neurologic Manifestation

    Neurological manifestations of chronic graft-versus-host disease after allogeneic haematopoietic stem cell transplantation: report from the Consensus Conference on Clinical Practice in chronic graft-versus-host disease. [nature.com]

Workup

Contributors: BMD and BVB were responsible for the neonatal workup. DMT and KKN did the dermatological workup. BMD and KKN drafted the manuscript. DMT and BVB critically reviewed the manuscript. Funding: None. Competing interests: None stated. [indianpediatrics.net]

Further workup (for example, renal ultrasound, renal biopsy), as clinically indicated should be pursued in patients with late-onset acute renal failure or CKD post transplantation. [nature.com]

Treatment

Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential [books.google.com]

At least two distinct categories of severe HIV-associated thrombocytopenia exist, one responsive to antiretroviral treatment and one non-responsive to antiretroviral treatment 15. [jordi.com.br]

The identification of congenital myasthenic syndromes subtypes will prove important in the treatment of these patients. [ncbi.nlm.nih.gov]

Treatment includes systemic treatment of chronic GVHD and topical treatment to increase lubrication, control evaporation or drainage, and decrease ocular surface inflammation. 18 Temporary or permanent occlusion of the tear-duct puncta for drainage control [nature.com]

Abstract/OtherAbstract: Authors: I Cat; N I Magdalena; L P Marinoni; M P Wong; O T Freitas; A Malfi; O Costa; L Esteves; D J Giraldi; J M Opitz Related Documents : 9843086 - Selective degeneration of sudomotor fibers in ross syndrome and successful treatment [biomedsearch.com]

Prognosis

Prognosis - Hard skin syndrome Parana type Not supplied. [checkorphan.org]

The bilirubin level in described clinical reports has indicated a good prognosis in disease follow-up with use of ursodeoxycholic acid. [karger.com]

We believethat the differentiation is important because of the dif-ferent course, prognosis, and management.Only after the genetic defect of extracellular organi-zation of collagen fibrils and/or the genetically deter-mined types of collagen in the affected [docslide.com.br]

Recognition of this syndrome is important for determining the prognosis of affected infants and for recommending genetic counseling to affected families. Restrictive dermopathy with distinct morphological abnormalities. [thedoctorsdoctor.com]

Etiology

*Departments of *Dermatology and Pathology, Cerrahpasa Medical Faculty, University of Istanbul, and IstanbulRetina Institute, Istanbul, TurkeyAbstract: Stiff skin syndrome (SSS) is a disease similar to sclerodermawith an unknown etiology. [myslide.es]

It presents as stone-hard areasof skin that areobserved frombirthor in early childhood.Its etiology is unknown. [docslide.net]

The management of thrombocytopenia in intensive care will depend on the etiology. The first treatment will be applied causal treatment 17. [jordi.com.br]

The etiology of these changes remains unclear. We tested several existing hypotheses and could not confirm them. [thedoctorsdoctor.com]

These are the preferred methods unless a tissue sample is needed to assess for other potential etiologies of liver dysfunction. [nature.com]

Epidemiology

Reksten TR, Jonsson MV: Sjögren's syndrome: an update on epidemiology and current insights on pathophysiology. Oral Maxillofac Surg Clin North Am 2014;26:1-12. [karger.com]

Epidemiology of thrombocytopenia in HIV infection. Eur J Haematol 1992;48(3):168-72. DOI: http://dx.doi.org/10.1111/j.1600-0609.1992.tb00591.x 9. Søgaard OS, Lohse N, Østergaard L, Kronborg G, Røge B, Gerstoft J, et al. [jordi.com.br]

Bronchiolitis obliterans syndrome epidemiology after allogeneic hematopoietic cell transplantation. Biol Blood Marrow Transplant 2011; 17 : 1072–1078. 32. [nature.com]

Pathophysiology

Electrophysiologic, morphologic, and molecular descriptions of various forms of congenital myasthenic syndromes have led to an enhanced understanding of clinical manifestations and disease pathophysiology. [ncbi.nlm.nih.gov]

Reksten TR, Jonsson MV: Sjögren's syndrome: an update on epidemiology and current insights on pathophysiology. Oral Maxillofac Surg Clin North Am 2014;26:1-12. [karger.com]

Keywords Chronic Diseases Lifestyle Metabolic Syndrome Students Background Metabolic syndrome (MetSynd) is a set of simultaneous pathophysiological changes that increase the risk of chronic diseases [ 1 ] and is associated with increased risk of cardiovascular [bmcpediatr.biomedcentral.com]

Prevention

Patients should be counseled about preventive measures for bone loss and fractures such as physical exercise, fall prevention, and vitamin D and calcium supplementation. [nature.com]

9 vaccines you NEVER need and exactly why the CDC has to scare everybody into getting them - Living Traditionally Kidney Doctor Says Vaccines Have Never Been Safe Suzanne Humphries, MD "There has never been a safe vaccine" - Vaccine Liberation Army Preventing [pinterest.co.uk]

[…] association between lymphoma and marked xerosis * HIV * Sarcoidosis * Liver and biliary disease, and renal insufficiency, are commonly associated with xerosis and marked pruritus * Diabetes mellitus * Medications (e.g., niacinamide) * Atopic dermatitis Prevention [checkorphan.org]

Guillain-Barré syndrome after vaccination in United States: data from the Centers for Disease Control and Prevention/Food and Drug Administration V. Multiple vaccines can maim and kill. [pinterest.de]

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2.1
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