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Onycholysis of Distal Nails Sensitivity to Cold with Paresthesias Fissures of Soles Palmoplantar Hyperhidrosis 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% Limited Hip Flexion 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 Thickened Ragged Cuticle Opalescent, Dull Nails Distal Onycholysis Fragile or Brittle Nails Superficial Pitting Excessive Longitudinal Ridging (Trachyonychia) Rough Sandpaper-Like Fingernails and Toenails 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 Perinuclear Vacuolization of Keratinocytes Large Irregularly Shaped Keratohyalin Granules Thickened Granular Layer of Epidermis Narrow Alar Root Broad Mid Nose Anomalous Middle Ear Bones Incomplete Jaw Opening Pericardial Fibrosis Requiring Pericardiectomy Recurrent Laryngotracheal Stenosis Menstrual Abnormality 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 Action Myotonia Impaired Gait due to Peripheral Neuropathy Mutation in the MYH11 Gene Peripheral Artery Occlusive Disease Intracranial Carotid Aneurysm Dissection of Descending Aorta Aneurysm of Descending Aorta Ascending Aorta Dissection Progressive Early Onset Myopia Flattened Epiphyses around Knee Joint Mildly Shortened Vertebral Bodies Onset Usually after Viral Infection Contiguous Gene Deletion of Imprinted Region of 11p15.5 Contiguous Gene Duplication of Imprinted Region of 11p15.5 Mutation in the KCNQ1 Overlapping Transcript 1 Gene Duplication or Deletion at 11p15.5 Onset in Childhood or Adolescence Whispering Dysphonia Coniform Teeth Fissured Nails Hypoplasia or Absence of Distal Phalanges Syndactyly of Toes Bulbous Swelling of the Fingertips Short Terminal Phalanx of the Fifth Finger