ichthyosis and erythrokeratoderma ch60

Question 1

ichythosis vulgaris

Answer 1

autosomal SEMIdominant; FLG gene: fine adherent scales on extremities>trunk; SPARES flexures; hyperlinear palms/soles

Question 2

steroid sulfatase deficiency

Answer 2

XLR; STS gene; dark brown adherent scales on extremities; SPARES flexures; corneal opacities, cryptorchidism and testicular cancer;

female carriers –> PROLONGED labor

Question 3

lamellar ichthyosis

Answer 3

AR; TGM1 gene; after collodion baby–> thick plate like brown scales with significant flexural involvement; heat intolerance with hypernatremic dehydration; scarring alopecia; dystrophic nails; hypohidrosis

Question 4

congenital ichthyosiform erythroderma (CIE)

Answer 4

AR; TGM1, ALOXE3/12 gene; after collodion baby–> generalized white scale with flexural involvement

Question 5

congenital self healing collodion baby

Answer 5

AR;TGM1, ALOXE3/12 gene; after collodion baby–> no residual lesions, heals normally

Question 6

harlequin ichthyosis

Answer 6

AR; ABCA12 gene; scale and fissures that tightly encase the newborn –> ectropion, eclabium, ear deformities. often neonatal death with sepsis or respiratory insufficiency; Tx early retinoids

Question 7

epidermolytic ichthyosis (aka bullous CIE)

Answer 7

AD; KRT1 and KRT 10 gene; erythroderma and blistering at birth. hyperkeratosis with cobblestone pattern +/- malodor and frequent infx. **retinoids can worsen skin fragility

Question 8

superficial epidermolytic ichthyosis (aka ichthyosis bullosa of Siemens)

Answer 8

AD; KRT2 gene; erythroderma and superficial blistering at birth.

Question 9

ichthyosis hystrix curth-macklin

Answer 9

AD; KRT1 gene; mutilating Palmoplantar keratoderma; psuedoainhum

Question 10

ichthyosis en confetti

Answer 10

AD; KRT10 gene; erythroderma and scaling at birth –> confetti-like scaling and palmoplantar keratoderma

Question 11

netherton syndrome

Answer 11

AR; SPINK5 gene; congenital erythroderma, ichthyosis linearis circumflexa w/ double-edged scale; BAMBOO HAIR; + atopy

Question 12

Sjogren-Larsson syndrome

Answer 12

AR; FALDH gene; erythema, hyperkeratosis, lichenification, pruritus, DI/TETRAplegia, PERIFOVEAL GLISTENING WHITE DOTS; photophobia

Question 13

neutral lipid storage disease with ichthyosis (chanarin-dorfman syndrome)

Answer 13

AR; ABHD5 gene; generalized white scale with developmental delay and hepatomegaly

Question 14

refsum disease

Answer 14

AR; PHYH and PEX7 gene; resembles ichthyosis vulgaris with cerebellar ataxia and ATYPICAL RETINITIS PIGMENTOSA (“salt and pepper”)

• diet is important for treatment, particularly less green veggies, dairy and ruminant fats
• labs will show increased phytanic acid

Question 15

KID syndrome (keratitis-ichthyosis-deafness)

Answer 15

AD; GJB2 gene (connexion 26); hyperkeratotic plaques with well demarcated borders on face and limbs; congenital sensorineural hearing impairment; blindness; increased risk of SCC

Question 16

erythrokeratoderma variabilis

Answer 16

AD; GJB3 and GJB4 gene; transient variable erythematous patches (may be preceded by burning/stinging sensation), palmoplantar keratoderma

Question 17

progressive symmetric erythrokeratoderma

Answer 17

AD or AR; LOR and GJB4 gene; fixed slowly progressive erythematous and hyperkeratotic plaques on face, limbs, knees, elbows; palmoplantar keratoderma

Question 18

acral peeling skin syndrome

Answer 18

AR; TGM5 gene; recurrent spontaneous painless, superficial peeling on hands and feet with development of erythema. Made worse by heat and humidity

Question 19

CHILD syndrome (congenital hemidysplasia with ichthyosiformerythroderma and limb defects)

Answer 19

XLD; NSDHL gene;

Question 20

Conradi-Hunermann-Happle syndrome

Answer 20

XLD; EBP gene; generalized erythroderma + feathery scale

Question 21

Ichthyosis Follicular-Atrichia-Photophobia (IFAP)

Answer 21

XLR; MBTPS2 gene

Question 22

Unna Thost (nonepidermolytic PPK)

Answer 22

AD; KRT1 and KRT6c gene; diffuse PPK with hyperhidrosis

Question 23

Vorner (epidermolytic PPK)

Answer 23

AD; KRT1 and KRT9 gene; clinically identical to diffuse NEPPK

Question 24

Mal de Meleda

Answer 24

AR; SLURP-1 gene; atopic derm, dystrophic nails, horrible odor, trangradiens PPK

Question 25

Greither (transgradiens and progrediens PPK)

Answer 25

AD; KRT1 gene

Question 26

Mutilating Vohwinkel (keratoderma hereditaria mutilans)

Answer 26

AD; LOR and GJB2 gene; honeycombed PPK, pseudoainhum, + ichthyosis (LOR gene) or deafness (GJB2 gene)

Question 27

Papillon-Lefevre syndrome

Answer 27

AR; CTSC gene; PPK with PERIODONTITIS, gingivitis, premature loss of teeth, dural calcification