Nutritional

Question 1

Genetic type of pellagra
- Name, dominance, gene
- signs x 2
- Ix x 1

Answer 1

Hartnups disease
AR, SLC6A19 (amino acid transporter)
cerebellar ataxia, pellagra 3-9yrs
Urine amino acid level (elevated)

Question 2

Pellagra
- describe dermatosis

Answer 2

Photosensitive dermatoses
- shiny, shellac, dry, erythematous, hyper pigmented
- hands, feet, arms, leg
- casal necklace
- can be bullous
- can be scar like
- scaly/desquamative

Question 3

Pellagra sx (3), bloods findings (4)

Answer 3

Delirium, dermatosis, diarrhoea
Hypokalemia
Hypercalcemia
Transaminitis
Anaemia

Question 4

Pellagra causes (7)

Answer 4

Primary:
- Hartnups disease
Secondary:
- malabsorption (IBD, Coeliac, GI surgery)
- ETOH
- HIV
- carcinoid tumour

Question 5

Pellagra Tx

Answer 5

Nicotinamide 100mg QID for 3 weeks then 50mg BD.
Improve cause.
Other nutritional screening.
Dietician.
Other supports (eg. AODS, social worker).

Question 6

Vit C deficiency skin sx (6)

Answer 6

Corkscrew hairs
Petechiae/echymoses
Splinter haemorrhages
Spongy gingiva
Bleeding gums
Phyrnoderma

Question 7

Vit C deficiency systemic signs (8)

Answer 7

Anaemia
Poor wound healing
Loose teeth
Bleeding (GI, cerebral, haemarthrosis)
Depression
Visual loss

Question 8

Causes vit c deficiency (7)

Answer 8

malabsorption
ETOH
restricted eating
inc age
malignancy
PPIs
smoking (inc oxidative stress which vit c mitigates, smokers need 35mg more per day than non-smokers)

Question 9

Dx of vit c deficiency

Answer 9

Unreliable blood but can try (measures recent intake rather than stores):
fasting serum ascorbic acid <0.2mg/dl

Question 10

Zinc deficiency causes

Answer 10

Primary:
Genetic AR SLC39A4

Secondary/acquired:
neonate
- breastfeeding - mother zinc deficient
- withdrawal of breastfeeding -> formula
- malabsorption (coeliac, CF, IBD)
- anorexia

Question 11

Why does zinc deficiency occur after weaning breastfeeding in an infant?

Answer 11

The total zinc may be higher in cows milk or formula however it is more bioavailable in breastmilk, hence more is absorbed.

Question 12

Name of rash of zinc deficiency

Answer 12

Acrodermatitis enteropathica

Question 13

Zinc deficiency sx (6)

Answer 13

1.Acrodermatitis enteropathica
- perioral, acral and nappy rash. Erosive, pustular, well demarcated
2. Alopecia
3. Nail dystrophy
4. Diarrhoea
5. Irritability
6. F2Thrive

Question 14

Zinc deficiency Ix (7)

Answer 14

1. Serum zinc (<70mcg/dl) - FASTING
2. Copper, iron (other nutritional)
3. ALP reduced (zinc deficient enzyme)
4. Swabs
5. Bx
6. Trichoscopy
7. Gene testing

Question 15

Histo acrodermatitis enteropathica

Answer 15

Pallor epidermis
Necrosis epidermis
Ballooning of epidermis
Psoriasiform hyperplasia

Question 16

ddx acrodermatitis enteropathica (3)

Answer 16

CF, biotin deficiency, necrotising migratory erythema (glucagonoma)

Question 17

Zinc deficiency tx (primary vs secondary)

Answer 17

Primary: 3mg/kg/day PO or IV
Secondary: 1mg/kg/day

Question 18

Vit A deficiency sx
2 skin
6 systemic

Answer 18

1.Phrynoderma
2. Xerosis

Occular
1. bitot spots (grey spots conjunctiva)
2. keratomalacia
3. night blindness
4. dry conjunctiva

5. Stunted growth
6. Intellectual disability

Question 19

Complications of severe Vit A deficiency?

Answer 19

Increased mortality in:
- measles, resp and diarrhoeal illnesses

Question 20

What is this

Answer 20

Phrynoderma

Question 21

Causes of phrynoderma?

Answer 21

Vit A,B,C,E deficiency
Essential fatty acids

Question 22

Vit A dx?

Answer 22

Vit A level <20mcg/dl

Question 23

Tx vit A deficiency

Answer 23

50,000-200,000 IU/day

Question 24

What is this? Causes?

Answer 24

Carotenoderma.

Anorexia
Diabetes
Hypothyroidism
Diets high in beta-carotene foods (carrots, pumpkin) eg. infants or vegan diet.
Liver or kidney disease.

Question 25

Skin signs in anorexia

Answer 25

Alopecia Lanugo hair Light coloured hair Carotenoderma Seb derm Hyperpigmentation Xerosis Pruritic Oedema Livedo reticularus Acrocyanosis Thin wrinkled skin Loss of fat pads Russels sign (calluses on knuckles)

Question 26

Skin signs obesity (13)

Answer 26

Striae dispense Skin tags Acanthosis Nigerians Intertrigo Seb Derm Hyperhidrosis Lipodermatosclerosus Lipoedema Lymphoedema Frictional sclerosis Stasis dermatitis Leg ulcers Plantar Hyperkeratosis

Question 27

Biotin Deficiency - sx (3)

Answer 27

1. alopecia 2. periorificial erosive dermatitis 3. flexural seb derm

Question 28

Fabrys disease Inheritance pattern What is deficient? Main skin sign

Answer 28

1. X linked. 2. Deficiency of enzyme (a-galactosidase) that breaks down lipids, accumulation of lipids in tissues. 3. Multiple Angiokeratomas

Question 29

Vitamin deficiencies in Cystic Fibrosis?

Answer 29

Vit A, D, E, K (fat soluble vitamins)