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Flashcards in CIS - Dobson, Putthoff Deck (28)
1

24 yo female, multiple skin lesions. Over 100 tan-brown macules and papules over her body, in sun-exposed and non-sun-exposed surfaces, 2-8mm. Single and clustered atypical melanocytes at DE junctions, linear fibrosis of superficial dermis, sparse inflammatory infiltrate in dermis.

Most likely molecular change?

Dysplastic nevus


Inherited loss of function of CDNK2A gene

2

FGFR3 RTK mutation

SKs, acanthosis nigricans, achondroplasia

3

DNA MMR genes MSH/MLH1

HNPCC, Muir-Torre

4

Unbridled SHH signaling

BCC

5

34 yo caucasian, moles have been getting larger, darker, and more numerous. Chloasma and linea nigra present. 15 pigmented macules, all under 3-4mm, symmetric w/ regular borders and uniform color. Scattered tan-brown polypoid lesions attached by slender stalk on neck and exilla. These have increased as well. The latter ones are...?

What is going on?

Fibroepithelial polyps/acrochordons/skin tags

Pregnancy --> causing increase in these

6

Lipomas, liposarcomas - LOOK UP

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7

Pilar cysts (wen) - LOOK UP

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8

69 farmer male pattern baldness, new lesion on top of head over 4 months. Prior scalp biopsies on head. Red-tan nodular and centrally ulcerated lesion on scalp. Also scattered red-ten hyperkeratotic lesions on scalp, face, and arms. Nodular mass shows atypical polygonal cells with intercellular bridges extending into the dermis and involving lymphatics

The benign lesions?

Genetics?

Squamous cell carcinoma


Actinic keratoses??


TP53 mutations at pyrimidine dimers (xeroderma pigmentosum = risk)

9

19 female w/ multiple maculopapular skin lesions. PMH of Meigs syndrome. Multiple pearly papules, some appear pigmented. Vascular telangiectasia. Some erythematous and ulcerated. Multifocal islands of basophilic cells in mucinous matrix. Cells at periphery are palisading. No hair follicules.

Genetics? Result?

Common associated tumors?

Nevoid BCC syndrome (Gorlin syndrome)


Germ-line mutation in one PTCH allele
---> SHH pathway activation

Ovarian fibroma, medulloblastomas, odontogenic...

10

FGFR3 -- 3 things

- Thanatophoric dysplasia (achondroplasia)
- Acanthosis nigricans
- Seborrheic keratosis

11

Osteosarcoma - 2 genes

RB
TP53 - Li Fraumeni syndrome

12

11 male, new arm fracture after falling out of bed. Had other fractures, some form of bone disease. Small for age. Slight hearing impairment bilaterally and small deformed blueish teeth. Complete fracture of mid humerus w/o bone deformities.

Genetics?

Osteogenesis imperfecta

Mutation in genes encoding alpha-1 and alpha-2 chains (COL1A1 and COL1A2)

13

11 male, new arm fracture after falling out of bed. Had other fractures, some form of bone disease. Small for age. Slight hearing impairment bilaterally and small deformed blueish teeth. Complete fracture of mid humerus w/o bone deformities. What slow growing locally aggressive tumor w/ pinwheel fibroblasts is associated with the same molecular abnormality?

Genetics? (2)

Other description for the "pinwheel" fibroblasts?

What bone deformities would you be looking to rule out? (examples)

Dermatofibrosarcoma protuberans


COL1A1, PDGF-beta (LOOK UP)

Storiform (swirling)

Erlenmeyer flask, Codman triangle, onion skin, etc

14

Kids w/ bone disease

- OI
- Osteopetrosis
- Rickets
- Renal osteodystrophy
- Osteonecrosis
-

15

Sequestrum

Dead bone in osteomyelitis

16

Involucrum

Newly deposited shell of bone around devitalized dead bone in osteomyelitis

17

Ollier disease, Maffucci syndrome -- what lesions?

Enchondromas

18

GNAS1 gain of function mutation

If combined w/ soft tissue (intramuscular) myxomas?

If combined w/ precocious puberty and brown skin spots?

Fibrous dysplasia

Mazabraud's syndrome

McCune-Albright syndrome

19

t(X;18)

Made up of? (2)

Synovial sarcoma

BIPHASIC -- Malignant spindle-shaped cells + malignant epithelioid cells of gland-like structures

20

HLA-DRB1

Rheumatoid arthritis

21

Increasing clumsiness for several days following atypical pneumonia and mononucleosis. Numbness in LEs and decreased DTRs bilaterally. Progresses to respiratory failure.

Described as what type of disease?

Time frame to be considered a chronic inflammatory demyelinating polyneuropathy? What else differentiates the 2?

Guillan-Barré

Acute, inflammatory demyelinating polyneuropathy

2+ months, responds to steroids (if chronic)

22

Increasing clumsiness for several days following atypical pneumonia and mononucleosis. Numbness in LEs and decreased DTRs bilaterally. Progresses to respiratory failure. CSF is most likely to show what?

Increased protein, scant white cells

23

Gram (+) rods, non-spore forming
Gram (+) rods, spore-forming

Diphtheria, Listeria
Anthrax, Clostridium

24

Distal, symmetric sensorimotor neuropathy w/ autonomic components

Diabetic neuropathy

25

Mexican lady, leonine thickening facies, pins and needles of LEs, increased difficulty walking. Type 2 DM on oral hypoglycemic medication. Shallow erythematous ulcerations on shin regions and features consistent w/ bilateral sensorimotor neuropathy to approximately the mid-calf bilaterally. Normal HbA1C. High PGL-1 antibodies.

Leprosy -- Infectious neuropathy

26

27 white female, blurry vision and malaise. Weakness and fatigue several months ago especially while walking or with prolonged standing. Drooping eyelids and some nystagmus upon exam. Repetitive physical exercises w/ generalize rapid muscle fatigue.

If muscle fatigue got better w/ physical exercises?

Myasthenia Gravis


Lambert-Eaton Myasthenic Syndrome

27

27 white female, blurry vision and malaise. Weakness and fatigue several months ago especially while walking or with prolonged standing. Drooping eyelids and some nystagmus upon exam. Repetitive physical exercises w/ generalize rapid muscle fatigue. Chest X-Ray shows anterior-superior mediastinal mass of 5.2 cm in diameter.

Thymic tumor

28

67 white female, fatigue and lethargy. Profound lack of energy for months and wants to know about iron supplementation. Obese, glucose elevated. Weakness localized to proximal leg extensors and hand/wrist muscles. Norma H/H. Worried about inflammatory myopathy, order muscle biopsy antibody studies and TSH.

Inclusion body myositis