Musculoskeletal manifestations of Systemic Disease

Question 1

Hypophosphatemic vitamin D resistant rickets

Answer 1

• Impaired PTH dependent proximal renal tubular reabsorption of phosphate
• Leads to low serum phosphorus levels with a normal Ca level
• X linked or autosomal dominant

Question 2

Vitamin D Def Rickets

Answer 2

• Insufficient vitamin D intake or failure or liver or kidney to convert vitamin D to appropriate form

Question 3

Calcium deficiency rickets

Answer 3

Insufficient intake, or impaired absorption (celiac, IBD, scleroderma, liver disease)

Question 4

Type 1 Vitamin D Dependent Rickets

Answer 4

• Defect in renal 1 alpha hydroxylase leading to failure to hydroxylate 25 OH–> 1, 25 OHD (active form)
• Autosomal recessive

Question 5

Type 2 vitamin D dependent Rickets

Answer 5

• End organ unresponsiveness to 1, 25 OHD

- Also have alopecia and absent eyelashes

Question 6

Hypophosphatasia

Answer 6

• Low serum alk phos
• Autosomal recessive
• Also have band keratopathy, proptosis, papilledema, loss of teeth, pseudogout

Question 7

Rickets manifestations

Answer 7

• Joint pain and bony tenderness
• Bowing of long bones, splaying of rib cage, rachitic rosary
• Proximal muscle weakness particularly of LE
• defective bone growth from suppression of calcification and maturation of epiphyseal cartilage

Question 8

Albright’s hereditary osteodystrophy

Answer 8

• Pseudohypoparathyroidism
• Diminished urinary cyclic AMP response to PTH
• Round facies, short stature, short 4th metacarpal, obesity, subcut calcifications, dev delay
• Labs: hyperphosphatemia, hypocalcemia, secondary hyperPTH, hyperPTH bone disease (osteitis fibrosa)

Question 9

Scurvy

Answer 9

• Vitamin C def
• Poor collagen synthesis with intradermal, gingival and sub periosteal hemorrhage leading to severe bone pain and hemarthrosis

Question 10

Hypervitaminosis A

Answer 10

• Pain in extremities, irritability, apathy, alopecia, delayed growth
• Cortical hyperostosis (metatarsals, ulna, spine) abnormal epiphyseal growth and periosteal new bone apposition

Question 11

Type II familial hypercholesterolemia

Answer 11

Achilles, patellar, extensor tendon xanthoma with recurrent acute migratory polyarthritis

Question 12

Type IV (hypertriglyceridemia)

Answer 12

• Hands, knee and ankles with mild chronic or migratory oligoarthritis
• Onset often acute with fever and elevated WBCs
• Arthritis is self -limited but may be misdiagnosed as septic joint or acute rheumatic fever

Question 13

Ochronosis (alkaptonuria)

Answer 13

• Autosomal recessive defect in homogentistic acid oxidase resulting in accumulation of homogentisic acid
• Pigmentation of cartilage (ears, sclera, heart valves), black urine, calcification and ossification of intervertebral disks, accelerated osteoporosis and osteoarthritis

Question 14

Thalessemia minor

Answer 14

• Anemia
• HSM
• Recurrent, brief episodes of joint pain, swelling and effusion, particularly of ankles

Question 15

Beta Thalessemia

Answer 15

Bone pain

Question 16

Kashin Beck (Urov) disease

Answer 16

Cause: fusarium mycotoxins in fungus infected grain or from selenium or iodine def
Symptoms: Symmetric polyarthritis and progressive enlargement and limited ROM of multiple joints; morning stiffness, muscle aches, weakness are initial symptoms; eventually results in dwarfing, epiphyseal deformity and short digits
Radiography: irregular erosions of small bones of hands and feet

Question 17

Mseleni disease

Answer 17

• South Africa
• Onset of joint pain in childhood
• Limited ROM
• Mild stunting of growth common, can lead to severe dwarfism
• Hips, knees and ankles are predominant sites

Question 18

Morquio disease

Answer 18

• Normal IQ
• Presents with effusion of large joint (knee) and progressive MSK stiffness by age 3 or 4
• Small joints of hands become enlarged and stiff, valgus deformity of the knees develop, gait becomes stiff and waddling
• Most joints hypomobile but some joints like wrists may enlarge but hypermobile
• Pectus deformity and barrel chest
• Severe dwarfism
• Platyspondyly and odontoid hypoplasia

Question 19

Scheie

Answer 19

• Normal IQ and stature preserved
• Progressive restricition of ROM of hands, elbows and knees without swelling or pain
• Corneal clouding and cardiac valvular disease in adulthood
• APR normal
• Urinary excretion of dermatan sulfate increased
• Decreased enzymatic activity of a-L-iduronidase

Question 20

Farber Lipogranulomatosis

Answer 20

• Hoarse cry, irritability
• Painful red masses along tendon sheaths, over pressure points and around the joints
• Nodules in conjunctivae, ears, nares
• Delayed motor development and retardation
• Epiglottal and laryngeal swelling resulted in repeated pulm infections and death around 2 years

Question 21

Gaucher disease

Answer 21

• HSM
• Pathological fractures of the femur
• Premature osteoarthritis
• Widening of distal femur on xr

Question 22

Fabry

Answer 22

• Chronic pain
• Recurrent fever
• Severe burning pain in extremities, hands and feet and distal arthritis
• Diarrhea and belly pain
• Hypohidrosis, heat and cold intolerance
• Osteoporosis and osteonecrosis
• Rash with purple papules
• renal, cardiac, or cerebral disease leads to death in adulthood if untreated

Question 23

Multicentric reticulohistiocytosis

Answer 23

• Rare, mutilating symmetric poly
• Stiffness and contractures
• Clear histiocytic cuteanous nodules

Question 24

Type I Glycogen storage disease (von gierke, glucose 6 phosphatase def)

Answer 24

• Stunted growth, HSM, progressive mental retardation
• Abnormal plt function, hypoglycemia, hyperuricemia
• May have gouty arthritis or tenditinitis in childhood

Question 25

Diabetic cheiroarthropathy

Answer 25

• Stiff hand syndrome
• Flexion contractures, typically in PIPs of the 4th and 5th fingers, may also have in other fingers, wrists, elbows, ankles, toes and spine
• Child usually unaware of joint limitations and has no pain
• Prevalence increases with duration of disease but not disease severity or lack of control

Question 26

Thyroid acropachy

Answer 26

• Rare form of hyperostosis of the phalanges, metacarpals, and metatarsals associated with hyperthryoidism, pretibial myxedema, exophthalmos, and clubbing

Question 27

Cystic fibrosis associated arthropathy

Answer 27

• Episodic arthritis lasting 1-10 days and recurring at intervals of weeks to months
• Associated with pruritic, nodular rash
• May be a reaction to chronic bacterial infection
• Treat NSAIDs

Question 28

Hemophilia

Answer 28

• Hemarthrosis is a hallmark
• Factor VIII def
• Knees, ankles, elbows most common

Question 29

Whipple disease

Answer 29

• Caused by Tropheryma whipplei
• Abd pain, weight loss, diarrhea, and arthralgia/arthritis that may precede other clinical signs by several years
• Migratory peripheral joint pain and inflammation lasting hours to months often associated with fatigue, weight loss, and anemia
• Diagnosis with PAS staining or PCR