Endocrine, Skin, Bones, Joints & Soft Tissues Flashcards
Infarction or hemorrhage of the
pituitary gland producing
sudden neurologic impairment
Pituitary apoplexy
Most common cause of
hyperpituitarism
Functioning anterior
pituitary neuroendocrine
tumor
(PitNET)/adenoma
Most common
hyperfunctioning pituitary
tumor
Prolactinoma
Hyperfunctioning of this cell
type produces gigantism in
children and acromegaly in
adults
Somatotroph (produces
GH)
Development of large,
destructive pituitary adenomas
post-adrenalectomy for
Cushing syndrome
Nelson syndrome
Pituitary macrotumors
measure
≥ 1 cm
New term for pituitary
adenoma based on WHO 5th
edition
Pituitary neuroendocrine
tumor (PitNET)
New term for pituitary
carcinoma based on WHO 5th
edition
Metastatic pituitary
neuroendocrine tumor
Most common hormone
produced by functional
metastatic PitNET
ACTH
Evidence of hypopituitarism
appear at this percentage of
parenchymal loss
75%
Arachnoid and CSF herniate
through a sellar diaphragm
defect and compress the
pituitary
Primary sella syndrome
Postpartum hypopituitarism
caused by significant blood loss
after delivery
Sheehan syndrome
Type of lung cancer that
produces syndrome of
inappropriate ADH excess
Small cell lung carcinoma
Pathology in central diabetes
insipidus (DI)
ADH deficiency
ADH level, serum and urine
osmolality in central DI
ADH - Low; Serum Osm -
Normal to high; Urine
Osm - Low
Pathology in nephrogenic DI
Unresponsiveness of
renal tubules to ADH
ADH level, serum and urine
osmolality in central DI
ADH - Low; Serum Osm -
Normal to high; Urine
Osm - Low
Histologic subtype of
craniopharyngioma
characterized by squamous
epithelium with peripheral
palisading, stellate reticulum “wet” keratin or “machine oil”
fluid, dystrophic calcification
Adamanatinomatous
↑ T3/T4 → ↓ TSH
Primary
hyperthyroidism
↑ TSH → ↑ T3/T4
Secondary
hyperthyroidism
One of the earliest and most
consistent features of
hyperthyroidism
Cardiac manifestations
Most common arrhythmia
encountered in
hyperthyroidism other than
sinus tachycardia
Atrial fibrillation
Autoantibodies present in
Hashimoto thyroiditis
Anti-thyroglobulin, antithyroid
peroxidase
Hashimoto thyroiditis
microscopic findings
Lymphoplasmacytic
infiltrates with germinal
centers, Oncocytic
change in thyrocytes,
Fibrosis
Hashimoto thyroiditis patients
have increased risk to develop
these neoplasms
Marginal zone
lymphoma, Papillary
thyroid carcinoma
Painless thyroid enlargement
in a postpartum patient; (+)
Anti-TPO; Thyroid biopsy -
lymphoplasmacytic infiltrates
with germinal centers only
Subacute lymphocytic
(painless) thyroiditis
Painful thyroid enlargement
following a history of URTI;
Thyroid biopsy - lymphocytic
infiltration, granulomas with
multinucleated giant cells
Granulomatous (De
Quervain) thyroiditis
Most common cause of
endogenous hyperthyroidism
Graves Disease
Disease-causing autoantibody
in Graves disease
Thyroid-stimulating
immunoglobulin (TSI)
Graves disease patients are at
risk to develop these
conditions
SLE, pernicious anemia,
Type 1 DM, Addison
disease
Accumulating substance that
causes exophthalmos in Graves
ophthalmopathy
Glycosaminoglycan
Scaly thickening and induration
of the skin overlying the shins
in Graves disease
Pretibial myxedema
Most common cause of goiter
Iodine deficiency
Features favoring thyroid
malignancy
Solitary nodule, Young,
Male patient, History of
radiation, Nonfunctioning
“cold”
nodules
Distinguishing feature of
follicular carcinoma from
follicular adenoma
Capsular and/or vascular
invasion
Most common thyroid
malignancy
Papillary carcinoma
A specific feature of papillary
thyroid carcinoma wherein the
nucleus is optically clear and
devoid of chromatin
Orphan Annie nucleus
Fast-growing thyroid
malignancy that has 100%
mortality within 6 months
Anaplastic carcinoma
Thyroid malignancy associated
with amyloid deposition and
IHC positive with calcitonin
Medullary carcinoma
Most common cause of primary
hyperparathyroidism
Parathyroid adenoma
Most common cause of
secondary
hyperparathyroidism
Renal failure
Skeletal disorder associated
with late-stage primary
hyperparathyroidism
Von Recklinghausen
disease of bone or
osteitis fibrosa cystica
Reliable criteria differentiating
parathyroid carcinoma from
adenoma
Metastasis and Local
invasion
Renal manifestations of
hyperparathyroidism
Nephrolithiasis,
nephrocalcinosis
Most common cause of
hypoparathyroidism
Surgical removal
The presence of Chvostek and
Trousseau signs is suggestive
of this electrolyte abnormality
Hypocalcemia
Autoantibodies against
pancreatic islet cells in T1DM
Anti-insulin, GAD, and
ICA2
Most important susceptibility
genes for T1DM
HLA DR3/DR4 (Ch6)
Most important environmental
factor causing T2DM
Central/Visceral obesity
Most common cause of death in
T2DM patients
Myocardial infarction
T2DM macrovascular
complications
Coronary, cerebrovascular,
and peripheral arterial
disease
T2DM microvascular
complications
Retinopathy,
Nephropathy,
Neuropathy
Nodules of pink hyaline
material in the glomerulus of
patients with diabetic
nephropathy
Kimmelstiel-Wilson
lesion/Nodular
glomerulosclerosis
Unequivocal criteria for
pancreatic neuroendocrine
tumor malignancy
Metastasis, Vascular
invasion, Local
infiltration
Whipple triad of insulinoma
Hypoglycemia <50
mg/dL, Neuroglycopenic
symptoms, Relief upon
parenteral glucose
administration
A patient presents with severe
GERD and peptic ulceration
despite intensive PPI
treatment. H. pylori is not
detected. Which pancreatic
tumor is most likely present?
Gastrinoma
Pancreatic tumor with features of
diabetes, necrolytic migratory
erythema, and anemia
Glucagonoma
WDHA syndrome of VIPoma
Watery diarrhea,
Hypokalemia,
Achlorhydria
Abdominal striae, obesity,
dorsocervical fullness (buffalo
hump), moon facies, ↑ 24-hour
urine free cortisol
Cushing syndrome
ACTH-secreting pituitary
adenoma
Cushing disease
Most common cause of Cushing
syndrome overall
Exogenous steroids
Most common endogenous
cause of Cushing syndrome
Cushing disease
Hypertension, hypokalemia, ↑
Aldosterone ↓ Renin
Primary
hyperaldosteronism or
Conn syndrome
↑ Renin ↑ Aldosterone
Secondary
hyperaldosteronism
Causes of secondary
hyperaldosteronism
Renal hypoperfusion -
Nephrosclerosis, Renal
artery stenosis, Arterial
hypovolemia; Pregnancy
Most common cause enzyme
deficient in congenital adrenal
hyperplasia
21-hydroxylase
Bilateral adrenal hemorrhage
as a complication of
meningococcemia causing
primary acute adrenocortical
insufficiency
Waterhouse-
Friderichsen syndrome
Eponym of primary chronic
adrenocortical insufficiency
Addison disease
Hormone elevated in Addison
disease that causes skin
hyperpigmentation
MSH or melanocyte-stimulating
hormone
Features differentiating
secondary from primary
adrenal insufficiency
Hyperpigmentation (↓
MSH); ACTH stimulation
test: (+) – ↑ in cortisol
Most common adrenocortical
tumor
Adrenocortical adenoma
Medullary chromaffin cell
tumor that produces
catecholamine
Pheochromocytoma
Only reliable criterion of
malignancy for
pheochromocytoma
Metastasis
Pheochromocytoma rule of 10
10% are extra-adrenal,
bilateral, biologically
malignant, and not
associated with
hypertension
MEN 1 Syndrome eponym
Wermer syndrome
Features of MEN 1 syndrome
3 Ps: Primary
hyperparathyroidism,
pancreatic tumor,
pituitary tumor
MEN 2A Syndrome eponym
Sipple syndrome
Clinical features of MEN2A
syndrome
Pheochromocytoma,
Medullary thyroid
carcinoma, Parathyroid
hyperplasia
MEN 2B Syndrome eponyms
Wagemann-Froboese
syndrome, MEN 3,
Mucosal neuroma
syndrome
Clinical features of MEN2B
syndrome
Pheochromocytoma,
Medullary thyroid
carcinoma, Neuromas,
Ganglioneuromas,
Marfanoid habitus
Gene mutation in MEN1
Pheochromocytoma,
Medullary thyroid
carcinoma, Neuromas,
Ganglioneuromas,
Marfanoid habitus
Gene mutation in MEN1
MEN1 loss
Gene mutation in MEN2A, 2B
RET gain-of-function
Nested melanocytic
proliferation without
architectural/cytologic atypia
Melanocytic nevus
Linear melanocytic
proliferation along basal
epidermis
Simple lentigo
Most deadly skin cancer
Malignant melanoma
Most important risk factor for
malignant melanoma
Sun exposure
Growth phase of melanoma
that has metastatic potential
Vertical growth phase
Type of melanoma located in
any cutaneous site except
palms and soles; Intermittently
sun-exposed skin
Superficial spreading
melanoma
Type of melanoma located in
on-hair bearing acral skin;
Unrelated to sun exposure
Acral melanoma
Measures the depth of invasion
of melanoma from the top of
the granular layer to the
deepest point of invasion
Breslow thickness
Thickened, hyperpigmented
skin with a “velvet-like” texture
in flexural areas seen in obese
and DM patients
Acanthosis nigricans
Acanthosis nigricans is a
cutaneous marker of these
malignancies
Gastrointestinal
malignancies
Soft pedunculated mass on the
skin; fibrovascular cores lined
by benign squamous
epithelium
Fibroepithelial polyp
(Acrochordon, Skin Tag)
Tan/dark brown plaque with
keratin-impacted pores on
dermoscopy
Seborrheic keratosis (SK)
The abrupt appearance of of
multiple seborrheic keratoses
caused by an associated
malignancy
Leser-Trélat sign
Blue-gray elastic fibers in the
dermis that serve as a marker
of sun damage; seen in actinic
keratosis
Solar elastosis
Most important risk factor for
squamous cell carcinoma of the
skin
UV radiation
Other risk factors for SCCA of
the skin
Ionizing radiation,
Immunosuppression,
HPV infection (5 and 8),
Coal tar, Arsenic, Old
burn scars, chronic
ulcers, draining
osteomyelitis
Most common type of skin
cancer
Basal cell carcinoma
(BCC)
Clinical features of BCC
Pearly, telangiectatic
papules→Ulceration
(Rodent ulcer), extensive
local invasion
Syndrome associated with
multiple BCCs,
medulloblastoma, odontogenic
keratocysts, etc.
Nevoid BCC (Gorlin)
syndrome
Type of hypersensitivity
observed in acute eczematous
dermatitis (contact with
external antigen e.g. poison ivy)
Type IV Hypersensitivity
Infections associated with
erythema multiforme
HSV, Mycoplasma,
Histoplasma,
Coccidioides, S. typhi, M.
leprae
Drugs associated with
erythema multiforme
Sulfonamides, Penicillin,
Barbiturates, Salicylates,
Hydantoins,
antimalarials
A patient presents with
multiple plaques with scaling
on the elbow, knee, and scalp
regions. Nail pitting and
onycholysis are present. What
is the most likely diagnosis?
Psoriasis
Pinpoint bleeding on lifting of
psoriasis scales
Auspitz sign
Appearance of new skin lesions
on previously unaffected skin
secondary to trauma
Koebner phenomenon
Collection of neutrophils in the
stratum corneum; a cardinal
sign of psoriasis
Munro microabscesses
Biochemical etiology of
seborrheic dermatitis
↑ Androgens, ↓ Dopamine
(Parkinson)
Infectious etiology of
seborrheic dermatitis
Malassezia furfur, HIV
Civatte bodies or necrotic basal
keratinocytes, interface dermatitis, and DEJ saw toothing are present in
Lichen planus
6Ps of lichen planus
Pruritic, purple,
polygonal, planar,
papules, and plaques
Most common type of
pemphigus
Pemphigus vulgaris
Pathology in pemphigus
vulgaris
IgG against desmoglein
(Desmosomes)
Immunofluorescence finding in
pemphigus vulgaris
Epidermis, intercellular
→ Lace-like pattern
Pathology in bullous
pemphigoid
IgG against BPAGs
(Hemidesmosomes)
Immunofluorescence finding in
bullous pemphigoid
Basement membrane →
Linear pattern
Clinical sign that differentiates
pemphigus vulgaris from
bullous pemphigoid
Pemphigus: (+) Nikolsky
sign
Disease associated with
dermatitis herpetiformis
Celiac disease
Pathology in dermatitis
herpetiformis
IgA against gliadins cross
reacts against reticulin
Acne-causing bacteria that
converts lipids into
proinflammatory fatty acids
Cutibacterium acnes
Papules with central black plug
(due to oxidized melanin
Open comedones
Causative agent of verruca
vulgaris
Low-risk HPVs
vPink, pearly papule with
umbilical center; curd-like
material can be expressed from
umbilication
Molluscum contagiosum
Etiology of impetigo
S. aureus (bullosa), S.
pyogenes (contagiosa)
Focal suppurative
inflammation of skin and
subcutaneous tissue
Furuncle
Deeper suppurative infections
that spreads laterally and
superficially
Carbuncle
Chronic suppurative infection
of the apocrine glands
Hidradenitis
Infection of the palmar side of
fingertips
Felon
Nail bed infection
Paronychia
Other term for Staphylococcal
Scalded Skin Syndrome
Ritter disease
Disruption of the migration
and condensation of
mesenchyme
Dysostosis
Global disorganization of
bone and or cartilage
Dysplasia
Most common skeletal
dysplasia
Achondroplasia
Most common cause of lethal
dwarfism
Thanatophoric dysplasia
Usual cause of death in
thanatophoric dysplasia
Respiratory insufficiency
Gene mutation in
achondroplasia and
thanatophoric dysplasia
FGFR3 gain of function
Most common cause of
inherited disorder of
connective tissue
Osteogenesis imperfecta
(Brittle bone disease)
Genes mutated in
osteogenesis imperfecta
COL1A1, COL1A2
Pathology in osteogenesis
imperfecta
Deficient Type I collagen
synthesis
Decreased bone mass (T
score = -1 – -2.5 SD)
Osteopenia
Severe osteopenia that
significantly increases the
risk of fracture (T score < -
2.5 SD)
Osteoporosis
Risk factors for osteoporosis
Advanced age, physical
inactivity, calcium and
vitamin D deficiency,
estrogen deficiency
Faulty bone mineralization
caused by vitamin D
deficiency; results in bone
softening and weakening
Rickets (Pediatric),
Osteomalacia (Adults)
Clinical features of rickets
Craniotabes (Softened skull
bones), Frontal bossing,
Squared head, Rachitic
rosary, Pigeon breast
deformity, Lumbar
lordosis, Bowing of legs
Skeletal disorder in CKD and
dialysis patients resulting
from secondary
hyperparathyroidism
Renal osteodystrophy
Mosaic pattern of lamellar
bone with cement lines
→Jigsaw-puzzle appearance
Paget’s Disease of Bone
Most dreaded complication
of Paget’s Disease of Bone
Secondary sarcoma
(Osteosarcoma >
Fibrosarcoma)
Stage of fracture healing on
Day 0-1
Organizing hematoma
Stage of fracture healing on
Week 0-1
Soft callus/bone callus
Type of bone deposited in
week 2-3 of fracture healing
Woven bone
Type of bone formed in week
3-months of fracture healing
Lamellar bone
Most common etiologies of
avascular necrosis
Fractures, corticosteroid
use
Site commonly involved in
avascular necrosis due to the
absence of collateral
circulation
Medullary cavity
Most common bacterial
cause of osteomyelitis
Staphylococcus aureus
Bacteria associated with
osteomyelitis in sickle cell
anemia patients
Salmonella
Region of the bone where
osteomyelitis in children is
commonly located
Metaphysis
Region of the bone where
osteomyelitis in adults is
commonly located
Epiphysis, Subchondral
In acute osteomyelitis,
destruction of the bone produces
draining sinuses called as
Sequestrum
Living shell around a
devitalized infected bone
Involucrum
Osteoid osteoma tumor size
and pain response to NSAIDs
<2 cm, pain relieved by
NSAIDs
Osteoblastoma tumor size
and pain response to NSAIDs
> 2 cm, pain not relieved by
NSAIDs
Most common primary bone
sarcoma
Osteosarcoma
Secondary osteosarcoma risk
factors
Paget disease of bone, bone
infarcts, previous radiation
Most common site of
osteosarcoma
Metaphysis - Knee
Radiologic findings
suggestive of osteosarcoma
Sunburst periosteal
reaction, Codman triangle
(Periosteal lifting)
Most common metastatic site
of osteosarcoma
Lung
Most common benign bone
tumor
Osteochondroma
Common site involved in
osteochondroma
Metaphysis - Knee, Pelvis,
Scapula, Ribs
Osteochondroma can
transform into which
sarcoma
Chondrosarcoma
Syndrome of multiple
enchondromas, Spindle cell
hemangiomas, Risk for brain
gliomas
Maffucci syndrome
Genetic mutation in Ewing
sarcoma
t(11;22) ESWR1::FLI1
Common site involved in
Ewing sarcoma
Diaphysis - Long bones,
Pelvis, Ribs
Rounded cell clusters around
a central fibrillary core seen
in Ewing sarcoma
Homer-Wright rosettes
Radiologic findings
suggestive of Ewing sarcoma
Lytic, infiltrative,
multilayered periosteal
reaction (Onion-skin
lesion)
Skeletal disorder associated
with McCune-Albright
syndrome
Fibrous dysplasia (+ Caféau-
lait spots + Precocious
puberty)
Most common skeletal
malignancy
Metastasis
Blastic bone lesions
Prostate
Lytic bone lesions
Kidney, Lung, GIT,
Melanoma
Most common form of
arthritis
Osteoarthritis
Osteophytes at the DIPJ
Heberden nodes
Osteophytes at CMCJ or PIPJ
of the hand
Bouchard nodes
Most common inflammatory
arthritis
Rheumatoid arthritis (RA)
HLA type associated with RA
HLA-DR4
Most common joints involved
in RA
Small joints of hands and
feet
PIP Hyperextension, DIP
flexion
Swan neck deformity
PIP Flexion, DIP
Hyperextension
Boutonniere deformity
IgM/IgG against IgG Fc
region
Rheumatoid factor
Early specific marker for RA
Anti-citrullinated peptide
antibody (ACPA)
Most commonly involved
joint in gout
1st MTP of big toe
Pathologic hallmark of gout
Tophus
Appearance of monosodium
urate crystals in polarized
microscopy
Needle-shaped, (-)
Birefringence (Yellow)
Crystals deposited in
pseudogout
Calcium pyrophosphate
dihydrate (CPPD)
Most commonly involved
joint in pseudogout
Knee
Appearance of CPP crystals
in polarized microscopy
Rhomboid, (+)
Birefringence (Blue)
Infectious etiology of
suppurative arthritis in late
adolescents and young adults
N. gonorrhoeae
Infectious etiology of
suppurative arthritis in
children <2 years old
H. influenzae
Examples of seronegative
spondyloarthropathies
Ankylosing spondylitis,
Reactive arthritis
Most commonly involved
joint in Ankylosing
spondylitis
Sacroiliac joint
Triad of reactive arthritis
Arthritis, Conjunctivitis,
Urethritis
Most common soft tissue
tumor of adulthood
Lipoma
Most common sarcoma of
adulthood
Liposarcoma
Most common soft tissue
sarcoma in children and
adolescents
Rhabdomyosarcoma
Craniopharyngioma:
Adamantinomatous mutation
Papillary mutation
CTNNB1 (B-catenin);
BRAF V600E
Metastatic PitNet features
(+) craniospinal involvement
(+) systemic metastasis
Graves disease is a Type _____ hypersensitivity reaction with Ab against _______________________
II; TSH receptors
Colloid is pale; scalloped (Moth-eaten)
Grave’s disease
Grave’s triad
Hyperthyroidism
Ophthalmopathy
Dermopathy
Brown glassy translucent cut surface
Goiter (Colloid involution)
A syndrome of toxic (hyperthyroid) goiter w/ functioning nodule from multinodular goiter
Plummer syndrome
Follicular adenoma mutation
RAS, PAX8::PPARG fusion
Follicular carcinoma route of spread
Hematogenous
Papillary carcinoma mutation
BRAF V600E, RAS, RET fusion
Route of spread of papillary thyroid carcinoma
Lymphatic
Thyroid carcinomas caused by iron deficiency
Follicular, Anaplastic
Thyroid carcinomas caused by iron excess
Papillary
Mutations in anaplastic thyroid Ca
TP53, TERT, RAS, BRAF
IHC of anaplastic thyroid Ca
(+) Cytokeratin
(+) PAX8
Thyroid ca that arise from follicular epithelial cells
follicular, anaplastic, papillary
Thyroid ca that arise from parafollicular c cells
Medullary
Mutation in medullary thyroid ca
Germline RET
Used to diagnose hyperfunctioning parathyroid tissue
Technetium-99m sestamibi
Lab parameter to use to check serum ca levels
Albumin
Hormone co-secreted w/ insulin that promotes amyloid deposition
Islet amyloid polypeptide
Why is the decrease in insulin in HHS not sufficient to cause ketoacidosis?
Adequate portal vein insulin levels
Manifestations: DKA vs. HHS
DKA: visceral (N/V, abdominal pain)
HHS: Neurologic
Steroid deficiencies in primary vs. secondary adrenocortical insufficiency
(glucocorticoid, mineralocorticoid, androgens)
Primary: Glucocorticoid, mineralocorticoid
Secondary: Glucocorticoid, androgens
Spironolactone bodies
Adrenal cortical adenoma
Adrenal cortical carcinoma are associated with the following conditions:
Li-Fraumeni Syndrome (TP53 loss)
Beckwidth-Wiedemann (IGF-2 overexpression)
Zellballen arrangement of chief cells surrounded by spindle sustentacular cells
Pheochromocytoma
Pheochromocytoma clinical features
Hypertension
DHP triad: Diaphoresis, headache, palpitations
Metastatic sites for pheochromocytoma
LLLB
Lymph nodes
Liver
Lung
Bone
Mutation in MEN 4
CDKN1B loss
(+) neurotization
Melanocytic nevus
Malignant melanoma mutation
TERT
Associated with Burt Hogg syndrome
Fibroepithelial polyp
Undulation of epidermal and dermal papillae
Acanthosis nigricans
Atypical squamous cells invading dermis
SCC of skin
Basal cell carcinoma gene affected
PCTH (tumor suppressor gene) loss
(+) thickening of epidermis and elongation of Rete
Test tube in a rack appearance
Seen in psoriasis
(+) neutrophils in spongiotic foci
Spongiform pustules of Kogoj
(+) follicular lipping
Seborrheic dermatitis
(+) Wickham striae
Lichen planus
Difference of Pemphigus vulgaris vs. Bullous pemphigoid
Ab against:
Location of blister:
Acantholysis
Pattern:
Nikolsky:
Pemphigus vulgaris
IgG against DESMOSOMES
Suprabasilar blister
(+) Acantholysis
Epidermis-intercellular –> lace-like pattern
(+) Nikolsky sign
Bullous pemphigoid
IgG against HEMIDESMOSOMES
Subepidermal blister
(-) Acantholysis
Basement membrane –> linear pattern
(-) Nikolsky sign
Pathogenesis of Verruca vulgaris
Viral E6 protein –> NOTCH inactivation –> ↑ epidermal hyperplasia
Well-differentiated LPS/Atypical Lipomatosis Tumor etiology (gene)
MDM2 amplification
Myxoid LPS etiology
DDIT3 rearrangement
Rhabdomyosarcoma soft tissue IHC
Desmin, myogenin, MYOD1
Alveolar RMS translocation
t (2:13) PAX3::FOXO1
t (1:13) PAX7::FOXO1
Conditions with presence of Psammoma Bodies
PSaMmoma bodies
Papillary ca of thyroid
Papillary ca of RCC
Serous cystadenoma of ovary
Meningoma
