Disease Information for Alkaptonuria/Ochronosis: Clinical Manifestations

Signs & Symptoms
Bluish/black pigmentation pinna/sclera/nose
Bluish/black pigmentation/nails
Brown skin discoloration
Pigmented malar areas/cheeks
Pigmented malar/nasal/axilla/groin areas
Sweat dark colored/black stains
Newborn diaper stains black
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
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