CIS - Dobson, Putthoff Flashcards
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
FGFR3 RTK mutation
SKs, acanthosis nigricans, achondroplasia
DNA MMR genes MSH/MLH1
HNPCC, Muir-Torre
Unbridled SHH signaling
BCC
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
Lipomas, liposarcomas - LOOK UP
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Pilar cysts (wen) - LOOK UP
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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)
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…
FGFR3 – 3 things
- Thanatophoric dysplasia (achondroplasia)
- Acanthosis nigricans
- Seborrheic keratosis
Osteosarcoma - 2 genes
RB
TP53 - Li Fraumeni syndrome
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)
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
Kids w/ bone disease
- OI
- Osteopetrosis
- Rickets
- Renal osteodystrophy
- ## Osteonecrosis
Sequestrum
Dead bone in osteomyelitis
Involucrum
Newly deposited shell of bone around devitalized dead bone in osteomyelitis
Ollier disease, Maffucci syndrome – what lesions?
Enchondromas
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
t(X;18)
Made up of? (2)
Synovial sarcoma
BIPHASIC – Malignant spindle-shaped cells + malignant epithelioid cells of gland-like structures
HLA-DRB1
Rheumatoid arthritis
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)
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
Gram (+) rods, non-spore forming
Gram (+) rods, spore-forming
Diphtheria, Listeria
Anthrax, Clostridium
Distal, symmetric sensorimotor neuropathy w/ autonomic components
Diabetic neuropathy
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
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 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
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
