What's The Diagnosis? Flashcards

1
Q

52/F 2-month history of rash that worsens with sun exposure
(well-demarcated, hyperpigmented, scaly rash on hands, forearms, and upper chest)

  • irritable, hostile and has episodes of disorientation
  • half a bottle of gin daily
  • poor nutritional intake
  • intermittent diarrhea
  • restricts diet for weight control, BMI 17
A

Pellagra /
Niacin (B3) Deficiency

KEYWORDS:
dermatitis
diarrhea
dementia

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2
Q

45/F
3-month history of persistent shoulder and back pain and easy fatigability

  • pain and stiffness in all her muscles that worsens in the morning and evening
  • pain exacerbated with activity
  • difficulty concentrating at work
  • PMHx: depression and GERD
  • PE: normal ROM and 5/5 muscle strength in both UE and LE
  • Soft tissue tenderness is present at several locations bilaterally above and below the waist
A

Fibromyalgia

  • chronic pain and fatigue for >3 months in the absence of physical or laboratory findings suggestive of an inflammatory etiology
  • widespread musculoskeletal pain in association with fatigue and neuropsychiatric disturbances (e.g. parasthesias, poor sleep, depression, difficulty concentrating)
  • common in women age 20-55
  • tenderness at characteristic locations in the soft tissues and at the bony prominences

Tx: incremental aerobic exercise; TCA and SNRI

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3
Q

56/M
persistent left wrist pain

  • fell forward to the ground and landed on his outstretched hand-PE: mild swelling over the dorsum of the left hand with preserved range of motion
  • point tenderness over the dorsolateral aspect of the hand between the tendons of the extensor pollicis longus and extensor pollicis brevis
A

Scaphoid fracture

-risk for avascular necrosis and nonunion

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4
Q

29/F
severe left hip pain after twisting her leg

  • has bony deformities of the lower extremities, mobility is limited
  • PMHx: Hyperthyroidism managed with radioiodine therapy; menarche was at age 7 and has regular 30-day cycles
  • PE: large hyperpigmented macules with irregular borders located on the left shoulder, left side of the neck and left buttock
  • XRAY: pathological fracture through the left hip in the region of fibrous dysplasia
A

Mc Cune-Albright Syndrome

triad:

  • fibrous dysplasia (multiple osteolytic-appearing lesions of the hip and pelvis)
  • endocrine abnormalities (peripheral precocious puberty)
  • café-au-lait spots

Pathogenesis: Mutation gNAS gene; constant G protein activation; hormone overproduction

Complications:
Thyrotoxicosis, acromegaly, cushing syndrome

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5
Q

56/F
new onset tonic-clonic seizures

  • recently has had right-sided headaches and has taken acetaminophen with some relief
  • MRI of the brain reveals several round lesions in the right temporal lobe
  • biopsy revealed neoplastic tissue containing a mutation in the gene that encodes BRAF, a protein kinase
  • point mutation results in valine to glutamic acid substation at position 600 of the protein
A

Melanoma

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6
Q

61/F, immigrant
long history of joint problems

  • she began to have pain in her hands at age 30; symptoms intermittent but progressive
  • Mx with NSAIDs
  • PMHx: hypertension, chronic anemia
A

Rheumatoid Arthritis

  • affects small joints (spares DIP)
  • cervical spine involvement (subluxation, cord compression)
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7
Q

20/M
acute tight shoulder pain

  • sustained a blow to the arm when tackled mid-thro during a football game
  • PE: flattening of the right deltoid muscle and insensitivity of the overlying skin to pinprick
  • peripheral pulses in the upper extremities are intact
A

Anterior dislocation of the humerus

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8
Q

57/M
1-day history of pain and swelling in his right knee

  • severe pain and difficulty bearing weight on the right leg
  • PMHx: Hypertension and seasonal allergies
  • SHx: alcohol 1-2 beverages per week
  • PE: Right knee is red and swollen; pain with passive ROM at the knee; knee ligaments show no significant laxity
  • synovial fluid : WBC 25,000/mm with neutrophilic predominance and numerous crystals
A

Pseudogout

Crystals are calcium pyrophosphate; WBC counte <50,000

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9
Q

36/M
2 month history of pruritic skin rash over the elbows and knees

  • no improvement with skim emollients
  • prlonged history of episodic abdominal discomfort, flatulence, and voluminous greasy stools
  • CVS normal; abdomen is soft and nontender
  • skin examination shows a papulovesicular skin rash in groups with erosion and excoriations
A

Dermatitis Herpetiformis

  • rash appear bilaterally and symmetrically on the extensor surface, upper back and buttocks
  • microabscesses containing fibrin and neutrophils at the dermal papillae tips

Patho: IgA antibodies against gliadin (protein in gluten); associated with celiac disease

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10
Q

54/F
multiple firm violaceous nodules on her right upper arm

PMHx: right sided breast carcinoma 12 years ago Mx with radical mastectomy with negative axillary lymph node dissection ;
Post-op patient developed chronic lymphedema involving her right arm

A

Angiosarcoma

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11
Q

38/M
OPD for pain in multiple joints

5-year history of lumbar pain and a 2-year history of bilateral knee pain-pain is worst after a long day on his feet
-ibuprofen, pain is no longer tolerable
- FMHx: paternal aunt with osteoarthritis
PE: blue-black spots on his sclerae and diffuse darkening of auricular helices

A

Alkaptonuria
(homogenistic acid dioxygenase deficiency)

benign childhood dse; severe arthritis in adult life

Autosomal recessive

deposits also occur in the large joints and spine causing ankyloses, motion restriction and significant pain

urine turns black when exposed to air due to oxidization of homogentisic acid

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12
Q

44/M
CC: confusin that began a few hours ago

Hx : severe headache and nausea

PE: 38.3C, nuchal rigidity

LP:
High opening pressure
Low glucose
Low protein
High neutrophils

Bonus: WHAT IS THE MOST PROBABLE ORGANISM?

A

Bacterial Meningitis

Streptococcus pneumonia – most common cause of bacterial meningitis in adults of all ages
(lancet-shaped Gm positive cocci found in pairs)

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13
Q

35/F
CC: headaches and vomiting

Hx: long history of psychiatric illness and practices eccentric dietary habits

PE: papilledema, dry skin, hepatosplenomegaly

Head CT : NEG for intracranial mass

A

Vitamin A overuse/toxicity

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14
Q

25/F
CC: fever and skin rash

Hx: newly diagnosed with seizures 6 weeks ago and was started on phenytoin; no structural lesions on MRI

PE: 38.9C, diffuse confluent erythema involving 60% of her body, palpable generalized lymphadenopathy and symmetric facial swelling

Dxtics: Eosinophilia, atypical lymphocytosis; elevated serum alanine transaminase

A

DRESS syndrome
Drug Reaction with Eosinophilia and Systemic Symptoms

Possible Pathophysio: drug-induced herpesvirus reactivation followed by clonal expansion of T cells that cross-react with the drug

May also include:
hepatomegaly, jaundice, acute interstitial nephritis, cough and dyspnea

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15
Q

56/M
ED CC: acute onset of chest pain and dyspnea

Hx : Pain started earlier in the day, has been significantly worsening over the past few hours; associated with difficulty catching his breath

PMHX: HTN, GERD; no prev rugeries

PE: Ventilation-perfusion scan reveals a large perfusion defect that does not match a ventilation defect in the lungs

A

Deep Vein Thrombosis /

Pulmonary Embolism

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16
Q

35/F/ African-American
CC : arthralgias and deep nodules on her legs

PMHx: U.R

PE : hepatomegaly

Dxtics: Enlarged hilar lymph nodes on CXR; elevated ACE; Negative PPD test

A

Sarcoidosis

Skin lesions:
- subcutaneous nodules (erythema nodosum), erythematous plaques or macules that are slightly reddened and scaling

Liver Biopsy - scattered granulomas affecting portal triads

Other Lab: Elevated Ca

17
Q

64/M
CC: Worsening SOB

HX: Able to speak in short sentences only and desaturates with minimal exertion –> rapidly develops respiratory failure and is intubated

PMHx: HTN and dyslipidemia

SHx: Smoked 1 pack a day for 40 years and worked 25 years as a nickel miner

Autopsy: brochi reveals thickened bronchial walls, neutrophilic infiltrates, mucus gland enlargement, and patchy squamous metaplasia of bronchial mucosa

A

CHRONIC BRONCHITIS

18
Q

65/M
several weeks of nonproductive cough

Hx: anorexia, unintentional weight loss

PMHx: hypothyroidism d/t Hashimoto thyroiditis

SHx: 50-pack years

Dxtics: enlarged, right supraclavicular LN; large mediastinal mass causing tracheal deviation; LN Histopath demonstrates clusters of small, ovoid cells with scant cytoplasm and high mitotic count; (+) chromogranin

A

Lung Small Cell (oat cell) CA

19
Q

49/M
CC: cough x 4 months and weight loss

Hx: otherwise U/R and takes no medications

SHx: Farmer who lives in Mississippi; does not use tobacco, alcohol or illicit drugs

PE: 37.9C, right lobe crackles,

CXR: pulmonary infiltrates in the RUL

Bronchoscopy: granulomatous inflammation

HIV Testing : Negative

A

Blastomycse dermatidis infection