Icthyoses

Question 1

List icthyoses

SCALE + not red

Answer 1

Scale not red

• isolated + flexures = LI
• isolated not flxural = IV, XLI

Scale not red syndromic = KRIS
Kalmans 
Refsums 
IFAP
Sulfatase

Question 2

Lamellar Icthyosis

Answer 2

AR, transglutaminase 1

Collodion baby
Ectropion, eclabion

Scale but not red
FLEXURURAL predominance

Scarring alopecia
Nail dystrophy
+-PPK

Heat intolerance

Question 3

Icthyosis vulgaris

Answer 3

Scale, not red, not flexural predominant

AD, Filaggrin mutation
1:100 Europe

First few months
Fine white scales, spares flexures (trunk and extensors vs ATopic dermatitis)

AD, hyper linear palms, KP

Histo: orthohyperkeratosis, absent granular layer
EM: scarse keratohyaline granules

Question 4

XL Icthyosis

Answer 4

Scaly, not red, not flexural

XLR - boys only
Steroid sulphatase deficiency

Mothers - prolonged labour

At birth minimal scale, resolves
2-6 months - thick brown scale, spares flexures and acral sites

Cryptochidism
Corneal opacities

Check female carriers for corneal opacities

Ix

• family tree - males on mother’s side
• gene mutation analysis
• steroid sulphatase activity (fibroblasts or plasma)
• opthal review

Histo: orthohyperkeratosis, thickened granular layer, follicular plugging
EM: increase corneodesmosomes

Question 5

Scaly, not red and SYNDROMIC

Answer 5

KRIS

KALMANS
RAFMUNS
ICTHYOSIS FOLLICULARIS
SULFATASE DEFICIENCY

Question 6

Refsums

Answer 6

Scaly not red and syndromic

AR
PHYH phytanic

Mild icthyosis in childhood
Neuro - deafness, ataxia, peripheral neuropathy
Opthal - retinitis pigmentosa
Heart block

Diet low green vegetables, dairy, ruminant fats

Question 7

Kalmans

Answer 7

Scaly not red syndromic

XLR

OBESE
Anosmia loss of smell
Hypogonadism

Question 8

Icthyosis follicularis IFAP

Answer 8

Scaly not red SYNDROMIC

XLR
MBTPS2 encodes zinc MMP

Icthyosis follocukaris
Alopecia
Photophobia (keratitis)

Question 9

Sulfatase deficiency

Answer 9

Scaly not red SYNDROMIC
AR
SUMF1

Icthyosis
Mental retardation

FTT and death

Question 10

Acquired icthyoses

Answer 10

DRIINNESS
DRUGS
RENAL and liver

Infection - HIV, leprosy, syphilis, HTLV1, TB
Infestation - onchocerciasis

Neoplasia - HL, NHL, KS, MM, MF, breast and lung, GVHD, gartric adenoca

Nutritional - malnutrition, malabsorption, EFA

Endo - hypothyroid, hypoparathyroid, hypopituitary, eczema

Sarcoidosis, solar damage

SLE, CTD (sjogrens, DM, eosinophilic follocukitis)

Question 11

Drug causes of acquired

Answer 11

CRACKKL

Clofazanine, chooestyranins, cimetidind
Retinoids
Allopurinol, antipsychotics
Cholesterol lowering, nicotine acid
Kava, tyrosine Kinase inhibitors
Lithium, Lasix (other diuretics)