ichthyosis and erythrokeratoderma ch60 Flashcards
ichythosis vulgaris
autosomal SEMIdominant; FLG gene: fine adherent scales on extremities>trunk; SPARES flexures; hyperlinear palms/soles
steroid sulfatase deficiency
XLR; STS gene; dark brown adherent scales on extremities; SPARES flexures; corneal opacities, cryptorchidism and testicular cancer;
female carriers –> PROLONGED labor
lamellar ichthyosis
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
congenital ichthyosiform erythroderma (CIE)
AR; TGM1, ALOXE3/12 gene; after collodion baby–> generalized white scale with flexural involvement
congenital self healing collodion baby
AR;TGM1, ALOXE3/12 gene; after collodion baby–> no residual lesions, heals normally
harlequin ichthyosis
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
epidermolytic ichthyosis (aka bullous CIE)
AD; KRT1 and KRT 10 gene; erythroderma and blistering at birth. hyperkeratosis with cobblestone pattern +/- malodor and frequent infx. **retinoids can worsen skin fragility
superficial epidermolytic ichthyosis (aka ichthyosis bullosa of Siemens)
AD; KRT2 gene; erythroderma and superficial blistering at birth.
ichthyosis hystrix curth-macklin
AD; KRT1 gene; mutilating Palmoplantar keratoderma; psuedoainhum
ichthyosis en confetti
AD; KRT10 gene; erythroderma and scaling at birth –> confetti-like scaling and palmoplantar keratoderma
netherton syndrome
AR; SPINK5 gene; congenital erythroderma, ichthyosis linearis circumflexa w/ double-edged scale; BAMBOO HAIR; + atopy
Sjogren-Larsson syndrome
AR; FALDH gene; erythema, hyperkeratosis, lichenification, pruritus, DI/TETRAplegia, PERIFOVEAL GLISTENING WHITE DOTS; photophobia
neutral lipid storage disease with ichthyosis (chanarin-dorfman syndrome)
AR; ABHD5 gene; generalized white scale with developmental delay and hepatomegaly
refsum disease
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
KID syndrome (keratitis-ichthyosis-deafness)
AD; GJB2 gene (connexion 26); hyperkeratotic plaques with well demarcated borders on face and limbs; congenital sensorineural hearing impairment; blindness; increased risk of SCC
erythrokeratoderma variabilis
AD; GJB3 and GJB4 gene; transient variable erythematous patches (may be preceded by burning/stinging sensation), palmoplantar keratoderma
progressive symmetric erythrokeratoderma
AD or AR; LOR and GJB4 gene; fixed slowly progressive erythematous and hyperkeratotic plaques on face, limbs, knees, elbows; palmoplantar keratoderma
acral peeling skin syndrome
AR; TGM5 gene; recurrent spontaneous painless, superficial peeling on hands and feet with development of erythema. Made worse by heat and humidity
CHILD syndrome (congenital hemidysplasia with ichthyosiformerythroderma and limb defects)
XLD; NSDHL gene;
Conradi-Hunermann-Happle syndrome
XLD; EBP gene; generalized erythroderma + feathery scale
Ichthyosis Follicular-Atrichia-Photophobia (IFAP)
XLR; MBTPS2 gene
Unna Thost (nonepidermolytic PPK)
AD; KRT1 and KRT6c gene; diffuse PPK with hyperhidrosis
Vorner (epidermolytic PPK)
AD; KRT1 and KRT9 gene; clinically identical to diffuse NEPPK
Mal de Meleda
AR; SLURP-1 gene; atopic derm, dystrophic nails, horrible odor, trangradiens PPK
