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Disease Information for Alkaptonuria/Ochronosis: Clinical Manifestations

Signs & Symptoms: Bluish/black pigmentation pinna/sclera/nose; Bluish/black pigmentation/nails; Bromhidrosis; Brown skin discoloration; Pigmented malar areas/cheeks; Pigmented malar/nasal/axilla/groin areas; Sweat dark colored/black stains
: Newborn diaper stains black
: Stiffness
: Broad based/wide gait
: Acute Back Pain; Arthralgias Polyarthralgias; Arthritis Children; Arthritis of major joint; Asymmetric Oligoarthropathy; Back Pain; Back Pain on Percussion/Spine; Back/Spine/Axial Pain; Backache; Bilateral knee pains; Chronic Back Pain; Decreased Knee range of motion; Joint mouse/Osteochondral bodies; Joint Pains; Joint pains Arthralgias in Children; Knee manifestation/involvement/secondary; Large joint involvement/manifestation; Loss/lumbar lordosis; Low Back Pain; Low back pain, unrelieved by rest; Lumbosacral Pain; Oligoarthritis syndrome/signs; Sacroiliac pain; Shoulder arthritis signs/symptoms; Simian stance/gate/bent forward/stooped/flexed; Skeletal problems/symptoms/signs; Spine pain/vertebral skeletal pain; Stiffness lower limb girdle; Stiffness of joints
: Nose cartilage dark/black
: Dark urine; URINE Stains underclothes/darken with washing; URINE Standing/darkens surface downward
: Episodic symptoms/events
: Bluish/black pigmentation sclera
: Calcification/pinna cartilage/sign; Ear cartilage/dark/black; Ear drum black pigment/periphery; Ear wax black/dark; Hearing problems
Clinical Presentation & Variations: Presentation/Aggressive Osteoarthritis; Presentation/Knees Hips Shoulder Spine Involvement; Presentation/Triad Arthritis Black pigment cartilage HGAcid urine
Disease Progression: Course/Attacks Episodic Spells; Course/Benign course/disorder; Course/Chronic disease crisis/flare/attacks; Course/Chronic disorder; Course/Chronic only; Course/Normal life span/expectation

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