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268 Possible Causes for Autosomal Dominant, Exanthema, Pediatric Disorder

  • Cryopyrin-Associated Periodic Syndrome

    Author information 1 a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre[ncbi.nlm.nih.gov] The disease was inherited as an autosomal dominant trait.[ncbi.nlm.nih.gov] Reference Centre for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Paris, France. 5 Translational Autoinflammatory Disease Section, NIAMS[ncbi.nlm.nih.gov]

  • Acute Hepatic Porphyria

    Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] Apart from an autosomal recessive pattern of inheritance seen in ADP, all hepatic porphyrias are caused by autosomal dominant mutations, leading to accumulation of neurotoxic[symptoma.com] Genetic counseling Acute hepatic porphyrias are monogenic hereditary disorders that are transmitted in an autosomal dominant manner (except the hereditary deficit of delta-aminolevulinic[orpha.net]

  • Dyskeratosis Congenita

    The lifetime occurrence of any of these disorders in our study was 83% in pediatric subjects and 88% in adults.[ncbi.nlm.nih.gov] PURPOSE: To report a case of autosomal dominant dyskeratosis congenita (AD-DC) complicated by bilateral retinal vasculopathy and proliferative retinopathy with vitreous hemorrhage[ncbi.nlm.nih.gov] CONCLUSION: Dyskeratosis congenita is a severe multisystem disorder, which should be considered in cases of pediatric exudative retinopathies with concurrent signs and/or[ncbi.nlm.nih.gov]

  • Tuberous Sclerosis

    Early diagnosis may reduce morbidity and mortality. tuberous sclerosis complex diagnosis epilepsy seizures neurocutaneous disorders Accepted September 20, 2010.[pediatrics.aappublications.org] In familial cases, TSC is an autosomal dominant disorder, which means that the disorder can be transmitted directly from parent to child.[sharecare.com] Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. J. med.[doi.org]

  • Chronic Mucocutaneous Candidiasis

    Pediatr Infect Dis J. vol. 20. 2001 Feb. pp. 197-206. (This is another review article that goes into greater depth regarding the different CMC disorders.)[dermatologyadvisor.com] The cause of autosomal dominant CMC is unknown. METHODS: We evaluated 14 patients from five families with autosomal dominant CMC.[ncbi.nlm.nih.gov] We describe a 27-year-old man with chronic mucocutaneous candidiasis inherited in an autosomal dominant fashion, in whom both lymphocyte blastogenesis and delayed-type skin[ncbi.nlm.nih.gov]

  • Erythropoietic Porphyria

    Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] It is inherited in an autosomal dominant pattern.[genome.gov] Exclusive bonus features include Diagnosaurus DDx, 200 pediatrics topics, and medical news feeds.[unboundmedicine.com]

  • Familial Mediterranean Fever

    Clinical differential diagnoses encompass erysipelas, erysipelas-like rashes after joint replacements, mercury exanthemas and malignant counter-parts (e.g. erysipelas melanomatosa[oatext.com] […] doi: 10.1097/BOR.0000000000000315 PEDIATRIC AND HERITABLE DISORDERS: Edited by Polly J.[journals.lww.com] […] that mimics autosomal dominant inheritance.[ghr.nlm.nih.gov]

  • Food Allergy

    BACKGROUND/AIMS: We evaluated our 16-year single-center experience of pediatric post-transplant lymphoproliferative disorder (PTLD) cases who underwent liver transplantation[ncbi.nlm.nih.gov] People with autosomal dominant hyper-immunoglobulin E syndrome (HIES) have recurrent bacterial infections of the skin and lungs.[niaid.nih.gov] Boyce, Joshua Avram, MD Clinical Interests Asthma Eosinophilic disorders Pediatric lung disease Food allergy Allergies Pulmonology Board Certifications Pediatric Pulmonology[massgeneral.org]

  • Zinc Deficiency

    Anxiety in Children In our practice, in addition to zinc deficiency, we often see yeast issues and gut issues in our pediatric patients with general anxiety disorder.[mensahmedical.com] We present a 4-month-old girl with TNZD due to a new autosomal dominant mutation (663delC) in the maternal SLC30A2 gene not previously described in the literature.[ncbi.nlm.nih.gov] Mutations in this transporter cause transient neonatal zinc deficiency (TNZD) with symptoms similar to AE but with autosomal dominant inheritance.[ncbi.nlm.nih.gov]

  • Multiple Carboxylase Deficiency

    Disorders E-2903 168 Measurement of Health Outcomes in Pediatric Neurologic Disorders E-2910 169 The Influence of Computer Resources on Child Neurology E-2918 170 Education[books.google.com] The chapters describe different types of diseases including those with autosomal dominant inheritance, those with autosomal recessive inheritance, those with x-linked inheritance[books.google.com] Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic 557 Multiple Sclerosis 566 Acute Disseminated Encephalomyelitis 604 Acquired Immunodeficiency 616[books.google.com]

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