Chapter 59

Question 1

Difference between scleromyxoedema and localised variants of lichen myxoedemas

Answer 1

scleromyxoedema:
- generalised papular eruption and sclerodermoid features
- triad of mucin + fibroblast proliferation + fibrosis
- monoclonal gammopathy, absence of thyroid disorder

Lichen myxoedematosus)- localised variant (papular, mucin with variable fibroblasts). No thyroid disease or monoclonal gammopathy.

Question 2

Classification of mucinoses

Answer 2

Primary and Secondary
Primary:
1) Diffuse:generalised myxoedema, scleromyxoedema, localised lichen myoedema, scleredema, REM, pretibial myxoedema, hereditary progressive mucinous histiocytosis.
2) follicular: follicular mucinosis, urticarial like
3) Focal/hamartomatous: myxoide cyst, mucinous naevus.
Secondary : lupus, connective tissue dsieases, neural tumours etc

Question 3

Types of scleromyxoedema

Answer 3

1) Generalised with systemic manifestations
2) Localised a) discrete popular, b) acral persistent on extensor hands and wrists, c) popular mucinosis of infancy, d) self healing popular mucinosis, e) nodular form
3) atypical forms

Question 4

Clinically scleroderma vs scleromyxoedema

Answer 4

Scleroderma: thickened and bound down skin vs Scleromyxoedema: still moveable over the subcutis, may have papules

Question 5

in scleromyxoedema death may occur due to

Answer 5

cardiac - coronary occlusion
bronchopneumonia
haematological malignancy

Question 6

Hartnup disease.
Problem
Gene
Path

Answer 6

Deficiency in synthesis of nicotinamide
SLC6A19 gene
diminished renal reabsorption of neutral AAs
looks like pellagra
Ix: aminoaciduria 
Tx is nicotinamide and high protein diet

Question 7

What skin disease has:

toad skin, keratotic papillose over extremities, back, ado and buttocks

Answer 7

Phrynoderma - vit A deficiency

Question 8

T/F Marasmus is due to calorie deficiency and kwashiorkor is due to protein deficiency

Answer 8

T

Question 9

Casal’s necklace

Answer 9

dermatitis around neck in pellagra (vit B3 deficiency)

Question 10

What deficiency has angular stomatitis, sore lips, tongue and mouth. Purple red tongue. Seb term like eruption

Answer 10

Vit B2 (riboflavin) deficiency

Question 11

Fabry’s disease due to
inheritence
presentation

Answer 11

x linked
deficiency of alpha glactosidease A - accumulation of glycosphingolipids in endothelial cells which encroach on lumen of blood vessels.
Presents in childhood with pain in extremities, then angiokeratomas. Telangiectasias.
Anhidrosis or hypohidosis.
cardiac, cerebrovascular disease and renal failure

Question 12

Lipoid proteinosis
inheritence
Gene
Path

Answer 12

AR, ECM1 gene
Deposition of hyaline material 
Hoarse cry, coval cords thickened. 
Beaded papules along margin of eyelids 
Blisters in early childhood, waxy papillose and hyperkeratosis

Question 13

What occurs in Muckle wells

Answer 13

familial urticaria, fever, limb pains, progressive deafness, associated AA amyloid nephropathy

Question 14

Which amyloid loses its affinity for congo red after exposure to potassium permanganate

Answer 14

AA NOT AL

Question 15

Method of Dx for systemic amyloid

Answer 15

skin bx of lesion, normal skin only 50% yield, rectal bx 80% yield, abdominal SC fat aspirate 80%

Question 16

Which amyloid protein in primary systemic?

Answer 16

immunoglobulin light chains (usually gamma) AL>AH

Question 17

Associations in primary systemic amyloidosis

Answer 17

plasma cell dyscrasias (most common)
Multiple myeloma (6-15%)

Question 18

Types of systemic amyloidosis

Answer 18

Primary AL
Secondary AA - chronic inflammation eg RA, chronic infection
Haemodialysis associated (due to high levels of beta2 micro globulin)
Genetic causes e.g. buckle wells, familial mediterranean fever

Question 19

Nodular amyloidosis

Answer 19

firm, sc nodules, often acral F>M, usually in 6th -7th decade. Often related to plasma cell clone
7% risk of progression to systemic
Need to Ix serum EPP and imaging