33401 to 33500 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Respiratory Failure in Infancy
• Hemifacial Palsy
• No Fetal Hydrops
• Distended Urinary Bladder
• Cystic Changes in the Kidney
• Spinal Cord Glial Hyperplasia
• Anterior Horn Atrophy
• Neurogenic Muscle Atrophy Especially in the Lower Limbs
• Circumscribed Clumps of Keratin Filaments
• Superficial and Deep Perivascular Infiltrates in the Dermis
• Eosinophils and Neutrophils in the Epidermis
• Epidermal Spongiosis
• Migratory Erythematous, Hyperkeratotic Plaques
• Allelic Disorder to Niemann Pick Disease Type A
• More Common in Ashkenazi Jews
• Decreased Pulmonary Diffusion Secondary to Alveolar Infiltration
• Acid Sphingomyelinase Activity Decreased
• Absence of Neurologic Manifestations
• Multiorgan Failure May Result from HS
• Mutations in the RAB27A Gene
• Humoral Deficiency (likely due to T-Cell Abnormalities)
• Delayed Hypersensitivity Impaired
• Early Death from Respiratory Failure May Occur
• Highly Variable Phenotype and Age of Onset
• Severe Pulmonary Involvement
• Foam Cells on Bone Marrow Biopsy
• Low Cholesterol Esterification Rates
• Sphingomyelinase Activity Normal or Mildly Reduced
• Caused by Mutations in the Claudin 1 Gene (CLDN1)
• Cicatricial Frontoparietal Alopecia
• Short Dystrophic Thick Hair
• Split Anchoring Plaques of Desmosomes in the Granular Layer
• Intracytoplasmic Vacuoles in Basal Keratinocytes
• Granular Layer Hyperplasia
• Mild Diffuse Ichthyosis
• Fibrosis without Fatty Infiltration or Ductular Proliferation
• Onset around Puberty
• Progressive Sclerosis with Age
• No Endobones
• Variable Sclerosis
• No 'Rugger-Jersey Spine'
• Pronounced Calvarial Sclerosis
• No Increased Fracture Rate
• Generalized Osteosclerosis
• Mutation in the LRP5 Gene
• Cranial Osteosclerosis
• Mutation in the Dynactin 1 Gene
• No Sensory Symptoms
• Lower Limb Muscle Weakness (Occurs Later)
• Breathing Difficulty due to Vocal Cord Paralysis
• Caused by Mutations in the Desmoplakin Gene
• Focal Detachment of Desmosomes Into the Intercellular Spaces
• Acantholysis Throughout all Layers of the Skin
• Hyperkeratotic Plaques on Trunk and Limbs
• Fragility with Blistering - Neonatal Onset
• Non Caseating Granulomas - Bone Marrow and Lymph Nodes
• Mild Chronic Sialoadenitis
• Predominantly Anterior Uveitis
• Reversible Renal Failure
• Relatively Mild Course
• Dopa-Unresponsive
• May Progress to Other Body Regions after Many Years
• Average Age at Onset: 15 Years (Range: 4-40 Years)
• Upper Limb Dystonia
• Rapid, Jerky Movements
• Alpha B Crystallin Expression in Oligodendrocytes
• Atrophy of Hippocampal Dentate Gyrus
• Dementia (Onset in Fifth Decade)
• Onset in Fourth to Sixth Decade
• Caused by Mutation in the Early Growth Response-2 Gene
• Mutation in the GABRG2 Gene
• Accounts for 5-15% of Childhood Epilepsies
• Seizures May Persist Into Adulthood
• Seizures May Remit in Adolescence
• High Frequency of Absence Seizures
• 3-4-Hz Spike and Multispike-and-Slow-Waves
• Febrile Seizures May Occur
• Giant Axons with Accumulation of Disorganized Neurofilaments
• Nerve Biopsy Shows Axonopathy
• More Common in Men (Male-to-Female Ratio = 9:1)
• Usually Fatal
• Considered a Myeloproliferative Disorder
• Onset at Age 20-50 Years
• Fusion of Genes FIP1L1 and PDGFRA
• Cardiac Infiltration of Eosinophils
• Increased Eosinophils without Myeloblasts in Bone Marrow Biopsy
• No Concurrent Allergies
• No Concurrent Parasitic Infection
• Peripheral Nervous System Involvement
• Disability by End of First Decade
• Onset in Neonatal Period or before Age 2 Years
• Hoarse Voice due to Vocal Cord Paresis
• Occasional Onion Bulb Formations
• Severe Distal Sensory Loss
• Rare Axonal Regeneration
• Thin Myelin Sheaths
• Normal Motor Nerve Conduction Velocities (NCV)
• Brisk Hoffman and Palmo-Mental Reflexes
• Upper Limb Involvement Usually Later
• 'Onion Bulb' Formation on Nerve Biopsy