Endocrine Diseases

Question 1

Acromegaly skin thickening

Answer 1

Due to deposition of colloidal iron positive material in the dermal papillae and reticular dermis

Skin thickness does not correlate with hormones

Question 2

Pseudoacromegaly

Answer 2

Acquired condition in insulin resistant DM due to fibroblast defect or on long term minoxidil

Question 3

Acromegaly

Answer 3

May occur with carney, McCabe Albright or MEN

Question 4

ACTH in Cushings

Answer 4

Adrenal - low
Pituitary - nl to high
Ectopic tumor - very high

Question 5

Eruptive nevi

Answer 5

Seen in addisons

Rarely may see fibrosis and calcification of the pinnae of the ears

Question 6

Total T in F > 200

Answer 6

Get ovarian imaging to rule out tumor

Question 7

Iatrogenic hypothyroidism

Answer 7

Li, IFN, bexaratene, After dress (especially aeds and minocycline)

Question 8

MC ab in hashimotos

Answer 8

Thyroid peroxidase in 95%

Skin changes reverse with replacement of hormone

Question 9

Thyroid achropachy

Answer 9

Nearly always seen in graves
Digital clubbing, soft tissue swelling of hands/feet, diaphysial proliferation of distal bones (tibia, fibula, ulna, radius)
Usually occurs after treatment

Question 10

Hypoparathyroidism

Answer 10

Faulty dentition if occurs during permanent teeth development
Scant hair, absent axillary and pubic hair
Brittle, malformed nails
Mucocutaneous candidiasis in 15%
Pustular PSO if Ca is low

Question 11

Pseudohypoparathyroidism

Answer 11

AD
High PTH from resistance, low CA
Blue sclera
Subcutaneous ossification and calcification

Question 12

AN

Answer 12

Type 1 malignancy associated - 60% accompany, MC adenocarcinoma of GI tract

Palms only - lung, palms and AN is gastric

Type 2- familial

Type 3 - insulin resistant states
MORFAN syndrome, PW, ataxia telangectasia, alstrom, rabson-mendenhall, beare Stevenson, crouton, bloom, Costello, wilsons, down, hermasky pudlak, rud

Question 13

Drug induced AN

Answer 13

Nicotine acid, niacinamide, somatotrophin, testosterone, OCP, insulin, protease inh, glucocorticoids, 10% of renal tx patients

Question 14

Limited joint mobility and waxy skin in diabetes

Answer 14

30-50% of diabetics
Associated with microvascular complications like nephropathy and retinopathy
Starts at the 5th finger

Question 15

Exogenous ochronosis

Answer 15

Due to hydroquinone, phenol (carbolic acid), picric acid, resorcinol

Caviar like papules, Andrews 26-34

Question 16

Hyaluronidase deficiency

Answer 16

Muco IX
Multiple periauricular soft tissue masses
HYAL1

Question 17

Laforas disease

Answer 17

Epilepsy
PAS positive cytoplasmic inclusions in eccrine gland/apocrine, bx axilla
Papulonodular ear lesions
Thick arm plaques
EPM2A gene (80%), NHLRC1

Question 18

CADASIL syndrome

Answer 18

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

MC heritable cause of stroke and vascular dementia
NOTCH3
Deposition of granular eosinophilic material in arterial walls

Question 19

Farber disease
(Fibrocytic dysmucopolysaccharidosis, lipogranulomatosis)

Answer 19

Rubbery subcutaneous nodules, yellowish over joints, lumbar spine and scalp, show granulomas on path
Farber bodies - curvilinear cytoplasmic bodies in fibroblasts, histiocyte
Banana shaped bodies in Schwann cells
Zebra bodies in neurons
Def of lysosomal ceramidase, accum of ceramide

Question 20

Adrenoleukodystrophy

Answer 20

Hyperpigmentation
Ichthyotic changes of trunk and legs
Trichorhexis nodosa
Vacuolization of eccrine coils(duct spared)