21 - 128 - CALCIUM AND OTHER MINERAL DEPOSITION DISORDERS Flashcards
Deposition of insoluble calcium salts in cutaneous tissue.
Calcinosis cutis
GC, 41/M diagnosed with chronic renal failure complained of firm, extremely painful, reticulated violaceous plaques over the lower extremities. Most likely diagnosis of this case?
a. Tumoral calcinosis
b. Hypervitaminosis D
c. Calciphylaxis
d. Benign nodular calcification
Which is true in relation with your answer to the question above?
a. Life threatening disorder
b. Chronic ingestion of vitamin D
c. Size and number correlate with degree of hyperphosphatemia
d. Deposition of calcific masses around the major joints (hips, shoulders, elbows, knees)
c. Calciphylaxis
a. Life threatening disorder
Hypervitaminosis D:
a. 100,000-150,000 u/d
b. 150,000-200,000 u/d
c. 50,000-100,000 u/d
d. 25,000-50,000 u/d
c. 50,000-100,000 u/d
Which statement is false in relation with iatrogenic calcification?
a. Complication of IV calcium chloride and calcium gluconate therapy
b. Minor trauma and prolonged contact with calcium salts
c. Skin graft donor sites after application of calcium alginate dressings
d. After liver transplantation
e. All are true
e. All are true
G.C, 50/M, recently had his routine serum uric acid test. Which among the following results is considered a risk to develop gout in 5 years?
a. >7mg/dl
b. >8mg/dl
c. >9mg/dl
d. >10mg/dl
a. >7mg/dl
Gout: which stage usually manifests erythematous and tender first metatarsophalangeal joint of the lower extremity?
a. Asymptomatic
b. Acute gouty arthritis
c. Intercritical gout
d. Chronic tophaceous gout
B
Stage which tophi is seen which is the pathognomonic sign.
a. Asymptomatic
b. Acute gouty arthritis
c. Intercritical gout
d. Chronic tophaceous gout
d. Chronic tophaceous gout
Which test/s is/are elevated in acute gouty attacks?
a. Uric acid
b. WBC
c. ESR
d. A and B
e. B and C
e. B and C
In patients with chronic tophaceous gout:
a. Uric acid lowering therapy must maintain <6mg/dl or 5mg/dl in patients with tophi or frequent attacks
b. Uric acid lowering therapy must maintain <7mg/dl or 6mg/dl in patients with tophi or frequent attacks
c. Uric acid lowering therapy must maintain <7mg/dl or 5mg/dl in patients with tophi or frequent attacks
d. Uric acid lowering therapy must maintain <6mg/dl or 4mg/dl in patients with tophi or frequent attacks
A
stains for calcium
Alizarin red S or von Kossa stains
3 regulatory hormones control the ionic calcium concentration in serum
(1) parathyroid hormone (PTH),
(2) calcitonin, and
(3) 1,25-dihydroxyvitamin D3 (1,25(OH)2 D3 ).
Calcification is the deposition of insoluble calcium salts; when it occurs in cutaneous tissues, it is known as
calcinosis cutis
the formation of true bony tissue by the deposition of calcium and phosphorus in a proteinaceous matrix as hydroxyapatite crystals
Ossification
Cutaneous calcification may be divided into 4 major categories
(1) dystrophic,
(2) metastatic,
(3) idiopathic, and
(4) iatrogenic
most common type of calcinosis cutis and occurs as a result of local tissue injury
Dystrophic calcification
- Although calcium and phosphate metabolism and serum levels are normal, local tissue abnormalities, such as alterations in collagen, elastin, or subcutaneous fat may trigger calcification.
- The internal organs usually remain unaffected
occurs without identifiable underlying tissue abnormalities, abnormal calcium, and/or phosphate metabolism
Idiopathic calcification
precipitation of calcium salts in normal tissue secondary to an underlying defect in calcium and/or phosphate metabolism
Metastatic calcification
- The calcification may be widespread and, in addition to the skin, affects predominantly blood vessels, kidneys, lungs, and gastric mucosa.
All patients presenting with signs of cutaneous calcification should receive a calcium and phosphate metabolic evaluation.
Identify the category of cutaneous calcinosis
IV calcium chloride
Iatrogenic
Identify the category of cutaneous calcinosis
Chronic renal failure
Metastatic
Identify the category of cutaneous calcinosis
Panniculitis
Dystrophic
Identify the category of cutaneous calcinosis
Hypervitaminosis D
Metastatic
Identify the category of cutaneous calcinosis
Connective tissue diseases
Dystrophic
Identify the category of cutaneous calcinosis
IV calcium gluconate therapy
Iatrogenic
Which category of calcinosis cutis may present with elevated or normal calcium and phosphate
Metastatic
Identify the category of cutaneous calcinosis
Cutaneous neoplasms
Dystrophic
Identify the category of cutaneous calcinosis
Tumoral calcinosis
Metastatic
Identify the category of cutaneous calcinosis
Milk-alkali syndrome
Metastatic
Identify the category of cutaneous calcinosis
infections
Dystrophic
Identify the category of cutaneous calcinosis
Inherited disorders
Dystrophic
Metastatic calcification most commonly occurs in what condition?
chronic renal failure
most common cutaneous neoplasms that manifest calcification and ossification
Pilomatricomas
Parasitic infections that may result in calcinosis cutis
onchocerciasis (Onchocerca volvulus) and cysticercosis (Taenia solium)
life-threatening disorder characterized by progressive vascular calcification, soft tissue necrosis, and ischemic necrosis of the skin
Calciphylaxis
This occurs almost exclusively in patients with a history of chronic renal failure and prolonged secondary hyperparathyroidism.
Calciphylaxis
disorder characterized by the deposition of calcific masses around major joints, such as hips, shoulders, elbows, and knees
Tumoral calcinosis (TC)
3 well-described ossifying syndromes
- Fibrodysplasia ossificans progressiva (FOP)
- Albright hereditary osteodystrophy (AHO),
- Progressive osseous heteroplasia (POH)
autosomal-dominant syndrome characterized by the progressive ossification of deep connective tissues leading to significant morbidity and mortality.
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP)
characteristic feature of fibrodysplasia ossificans progressiva (FOP)
Dysmorphic great toes
Gain-of-function point mutations in the activin (ACVR1/ALK2) gene have been identified as the cause of this condition
fibrodysplasia ossificans progressiva (FOP)
closely related syndromes that are characterized by intramembranous **bone formation **in skin.
Albright hereditary osteodystrophy (AHO), and progressive osseous heteroplasia (POH)
Heterozygous, inactivating mutations in the gene encoding for the α-subunit of the stimulatory** G protein of adenyl cyclase (GNAS1)**, a negative regulator of bone formation, have been identified in both of these disorders
Albright hereditary osteodystrophy (AHO), and progressive osseous heteroplasia (POH)
What do you call the sign characterized by brachydactyly dimpling over the metacarpophalangeal joints?
What condition is this seen?
Albright sign
Albright hereditary osteodystrophy (AHO)
Most patients have a deficient end-organ response to PTH or “pseudohypoparathyroidism” with hypocalcemia, hyperphosphatemia, and elevated levels of PTH. Other patients have “pseudopseudohypoparathyroidism” with normal serum levels of calcium and phosphorus.
Albright hereditary osteodystrophy (AHO)
Skin involvement has been described as a papular eruption resembling “rice grains” and having a “gritty” consistency
progressive osseous heteroplasia (POH)
- characterized by progressive ossification of skin and deep tissues during infancy or childhood
- Ossification usually begins in the dermis and progresses to involve deeper tissues, such as muscle, as well as overlying skin.
clinical syndrome caused by a group of heterogeneous diseases characterized by deposition of monosodium urate crystals in synovial fluid and joints with or without hyperuricemia, renal disease, or nephrolithiasis
Gout
most commonly affected sites of gout
first metatarsophalangeal joint and the ankle
describes the interval that occurs between attacks of gout, an interval of between 6 months and 2 years.
Intercritical gout
describes gout where patients rarely have asymptomatic periods
Chronic tophaceous gout
pathognomonic sign of gout
tophi
goal of urate-lowering drugs is to maintain the serum urate level consistently at less than what level?
less than 6 mg/dL (5 mg/dL in patients with tophi or frequent attacks)
first-line drug for lowering serum urate
Allopurinol
It decreases production of uric acid, and is indicated for patients with **nephrolithiasis, renal impairment, those who failed uricosuric agents, **with myeloproliferative disorders on chemotherapy, and patients with hyperuricemia due to enzyme abnormalities.
FDA approved for short-course therapy to prevent tumor lysis syndrome
Rasburicase
Thus uricase is approved in patients with refractory chronic gout
IV pegloticase
- recently Food and Drug Administration (FDA)–approved selective uric acid reabsorption inhibitor
- It inhibits URAT1 and OAT4
Lesinurad
- URAT1 - urate transporter that is responsible for most renal reabsorption of uric acid
- OAT4 - transporter associated with diuretic-induced hyper uricemia
