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Blisters Originating in Basal Cells above Hemidesmosomes Small Hemorrhagic Blisters on Hands Skin Fragility with Non-Scarring Blistering Generalized Bruising Tendency May Have Seasonal Variance in Severity Onset of Blistering and Pigmentary Changes in Childhood Basal Cell Layer Contains Clumped Keratin Filaments Degeneration of Epidermal Basal Cells Punctate Palmoplantar Hyperkeratosis Discrete 2 to 5 mm Hyper and Hypopigmented Macules 'Mottled' Pigmentation of the Trunk and Proximal Extremities Acral Blistering Hip Joint Replacement Often Necessary Mutation in the COMP Gene Hip Osteoarthritis (Early Onset) Hip Movement Limited Mild Irregularity of Vertebral Endplates Final Adult Height 145 - 170 cm Frequency in Individuals Originating from Western Scotland Increased Tumors Leave Pitting Scars Spontaneous Resolution of Tumors within Months Tumors Are Locally Invasive Tumors Appear Most Often on Sun-Exposed Regions Disorder May Progress to Involve a Larger Body Area Swelling of the Affected Areas Variable Phenotype with Some Patients Having Very Mild Symptoms Mutation in the Erythropoeitin Receptor Gene Erythropoietin Low or Normal Death from Pneumonia Death by Age 6-7 Years Characteristic Face and Body by Age 2 Years Intervertebral Calcifications Poor or Absent Neurologic Development Caused by Mutations in the Exostosin 1 Gene Bilateral Overriding of Single Toes Exostoses in Juxtaepiphyseal Regions of the Long Bones Increased Risk of Chondrosarcoma Lesions Continue to Grow until Epiphyseal Plate Closure More Severe in Males than in Females Caused by Mutations in the Exostosin 2 Gene Madelung-Like Forearm Deformities Protuberances at Ends of Long Bones Risk of Chondrosarcoma Increased Short Stature in Less than 50% Absence of Premature Birth, Low Birthweight, and Exposure to Oxygen Caused by Mutation in the Frizzled Receptor 4 Gene Macular Ectopia Vitreoretinal Traction Fever Episodes Last from 3 to 10 Days Favorable Response to Antibodies against TNF-Alpha Colchicine Treatment Is Not Effective Caused by Mutation in the Pyrin Gene (MEFV 608107-0018) Transient Erysipelas-Like Erythematous Rash Prenatal History of Maternal Diabetes in 35% of Cases Short Metatarsals III, IV, V Shoulder Movement Limited Variable Humeri Hypoplasia Variable Fibular Involvement Aplasia or Hypoplasia of the Femur Bilateral, Often Asymmetric Involvement of Femora Vertical Ischial Axis Large Obturator Foramina Constricted Iliac Base Poorly Formed Pinnae 95% of Cases Are Sporadic Trauma or Surgery can be Foci of Ectopic Ossification Ossification Evident 2-8 Months Following Swelling Onset at Mean Age of 5 Years Progressive Ectopic Ossification Painful Swelling in Fasciae Progressive Ectopic Ossification of Tendons and Ligaments Restricted Arm Mobility Painful Swellings in Tendons Small Cervical Vertebral Bodies Progressive Cervical Vertebral Spine Fusion Flat, Broad Mandibular Condyles Trichodiscomas - Tumor of the Hair Disc Alveolar Bone Normal Dilatation of the Aortic Arch Dry, Thick Skin Poor Muscle Bulk Fleshy Nose Long Lobulated Ears Birthweight Greater than 90th Percentile Mutation in the Kinesin Family Member 21A Gene Inability to Raise Eyes above Midline Bilateral Infraducted Eye Position - Downward Gaze Majority of Affected Individuals Are Female - 85% Hypoplastic or Absent Fifth Finger and Toenails Hypoplastic to Absent Terminal Phalanges (Especially 5th Toe) Microureter Unusual Fears Agenesis of Anterior Commissure Moderate to Severe Hypotonia Mutations in the LCAT Gene Alpha-Lecithin:Cholesterol Acyltransferase Activity Decreased Plasma VLDL and LDL Increased Wide Columella Normal Motor Development Phenotypic Overlap with Denys Drash Syndrome