Sitemap | Symptoma 39301 to 39400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 Intraepidermal Vesicles Migratory Erythematous, Hyperkeratotic Plaques Neonatal Blisters and Erosions 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 during 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 Decreased Number of Myelinated Fibers 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
