22401 to 22500 most common queries

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

• Onset around Adolescence
• Column of Parakeratotic Cells Overlying Absent Granular Layer
• Central Atrophic Area Has a Peripheral Keratotic Ridge
• Scaly Scalp
• Nails Palms and Soles Are Spared in Some Patients
• Progression Usually in Cephalocaudal Direction
• Male to Female Ratio of 3:2 in Childhood Cases
• Nail Plate Thickening
• Discoloration - Yellow, Brown
• Focal Keratotic Plugging
• Focal Orthokeratosis
• Islands of Uninvolved Skin
• Erythematous Plaques Covered with Fine Powdery Scales
• Immunoglobulins Elevated - Particularly IgE
• Onset in the Fourth to Sixth Decades - Mean 40 Years
• Leukoencephalopathy in the Frontal and Parietal Lobes
• Existence as a Distinct Entity Is Not Confirmed
• Known Coagulation Factors Normal
• Onset Mid to Late Adulthood
• Aggregation of SNCA-Immunopositive Inclusions
• Intracellular Lewy Bodies
• Loss of Dopaminergic Neurons
• Possibly Dementia
• Visual Hallucinations May Occur
• Dysautonomia May Occur
• Primary Myopathic Changes (EMG)
• Non-Specific Myopathic Changes (Biopsy)
• Nail Changes May Be Intermittent in Some Patients
• Absent Lunulae Except on Thumbs
• Slowing of Nail Growth
• Onycholysis of Distal Nails
• Sensitivity to Cold with Paresthesias
• Secondary Tumors Develop within the Skin Lesions
• Variable Extracutaneous Manifestations
• Onset of Skin Lesions at Birth
• Mutation in the KRAS Gene
• Lesions Follow the Lines of Blaschko
• Phosphaturia May Disappear after a Long Period of Time
• Neurologic Abnormalities in about 7%
• Abnormal Axons with Sprouting and Swelling
• No Sensory Defects
• Hypertension is Presenting Sign
• Onset in Young Adulthood or Adulthood
• No Complement Deposition
• Some Sclerotic Glomeruli
• Renal Biopsy Showed Interstitial Fibrosis
• Not All Nails Are Affected in Some Patients
• No Abnormalities of Skin Hair Teeth or Bones
• Present at Birth or Onset in Early Childhood
• Thickened Verrucous Skin at Free Border of Nails
• Opalescent, Dull Nails
• Fragile or Brittle Nails
• Excessive Longitudinal Ridging (Trachyonychia)
• Caused by Mutation in the Keratin 14 Gene
• Mutation in the DNM2 Gene
• Variable Response to Acetazolamide and Carbamazepine
• Some Patients May Develop Interictal Progressive Ataxia
• Interictal Myokymia
• Incoordination of the Hands
• Seizures Are Sensitive to Hyperventilation
• Onset of Seizures at Age 7-12 Years
• Onset of Muscle Weakness around Age 5 Years
• 3-4 Hz Slow Sharp-Waves
• Normal Early Psychomotor Development
• No Sensory Impairment
• Mild Cognitive Delay
• Primary Trabeculodysgenesis
• No Abnormalities of Hair Teeth or Bones
• Sparing of Some Nails in Some Individuals
• Intrafamilial Variability in Degree of Nail Involvement
• Spoon-Shaped Toenails
• Ductal Proliferation Seen on Biopsy
• Hepatic Fibrosis Seen on Biopsy
• Jaundice Resolves in Postpartum Period
• Many Cases due to De Novo Mutation
• Contiguous Gene Syndrome Caused by Deletion of 18p11.21-p11.1
• Caused by Mutation in the Keratin 9 Gene (KRT9)
• Caused by Mutation in the Keratin 1 Gene
• Aggregated Tonofilaments at Cell Surface
• Cytolysis of Keratinocytes in Spinous and Granular Layers
• Large Irregularly Shaped Keratohyalin Granules
• Narrow Alar Root
• Broad Mid Nose
• Anomalous Middle Ear Bones
• Incomplete Jaw Opening
• Pericardial Fibrosis Requiring Pericardiectomy
• Recurrent Laryngotracheal Stenosis
• Onset of End-Stage Renal Disease 15-20 Years after Onset
• Onset of Proteinuria in Third to Fourth Decade of Life
• Percussion Contraction of the Tongue
• Motor Neuropathy More Prominent than Sensory Neuropathy
• Most Patients Retain Ambulation with Aids
• High-Frequency Spontaneous Discharges (EMG)
• Hang Weakness
• Distal Muscle Weakness and Atrophy - Upper and Lower Limbs
• Hyperexcitability of Peripheral Nerve Fibers
• Mutation in the MYH11 Gene
• Intracranial Carotid Aneurysm
• Dissection of Descending Aorta
• Aneurysm of Descending Aorta