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Genoderms - Tet > Icthyoses > Flashcards

Icthyoses Flashcards

1
Q

What are 2 XLD icthyoses?

A

Conradi-Hunermann-Happle

CHILD syndrome

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2
Q

What does CHILD stand for?

A

Congenital Hemidysplasia
Ichthyosiform Erythroderma
Limb Defects

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3
Q

Inheritance of CHILD?

A

XLD, NSDHL (no show DHL, while child waiting for gift)

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4
Q

CHILD and Conradi-Hunermann H are defects in what?

A

CHILD - lipid metabolism disorder
CHH - cholesterol synthesis disorder
CH for CHolesterol/lipids

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5
Q

List 5 clinical features of CHILD?

A 
congenital hemidysplasia
ichthyosiform erythroderma
limb defects
organ hypoplasia on affected side
scoliosis
may have stripped epiphyses!!! - > resolve w/ time unlike CHH
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6
Q

Unique feature on path for CHILD?

A

foamy histiocytes in dermal papillae

acanthuses, parakeratosis, etc

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7
Q

unique tx for CHILD syndrome?

A

disorder of lipid metabolism:

topical 2% lovastatin or simvastatin in 2% cholesterol -> targets underlying cholesterol pathway

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8
Q

Inheritance and gene for Conradi Hunermann Happle?

A

XLD
EBP
CHH-Eck - BP

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9
Q

Cutaneous clinical presentation of Conradi HH?

A

birth - ichthyosiform erythroderma - pictures have whorls and streaks of keratosis
transitions to Blashkoid hyperkeratosis -> in older kids transitions to linear or patchy follicular atrophoderma w/ dilated follicular openings/icepick scarring
+- nail changes like onychoscizia
+- patchy scarring alopecia

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10
Q

Extracutaneous presentation of CHH?

A
  • C for cataracts - unilateral
  • C for chondrodysplasia punctuate - stripped epiphyseal
  • asymmetric skeletal abs
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11
Q

Tx for Conradi Hunermann Happle?

A

emolients
optho needed (cataracts, unilateral)
ortho (chondrodysplasia punctata, skeletal abn)

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12
Q

List 4 erythrokeratodermas?

A

EKV, PSEK, KID, HID

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13
Q

What does PSEK stand for?

A

progressive symmetric erythrokeratoderma

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14
Q

what does KID stand for? HID?

A

Keratitis ichthyosis deafness

hystrix-like (spine like) ichthyosis deafness (keratitis less prominent)

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15
Q

which erythrokeratodermas are a/w with PPKs?

A

all (EKV, PSEK, KID/HID), as all are AD» AR connexin disorders; connexin is involved in PPKs and some PPKs are connexin related

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16
Q

Clinical hallmark of erythrokeratoderma variabilis? How is EKV different from PSEK?

A

transient +- burning erythematous patches lasting minutes to hours as well as permanent geographic/polycyclic erythrokeratoderma (aka red plaques with +++ keratosis) favouring PsO regions
PSEK has similar geographic erythrokeratoderma, but lacks transient erythematous patches

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17
Q

Other features of EKV?

A

PPK (connexin disorder)

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18
Q

Triggers and tx for EKV?

A

trauma, heat, sun

avoid triggers, keratolytics, retinoids TO/PO, camouflage makeup, avoidance of triggers

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19
Q

Clinical of PSEK?

A

slowly progressive figurate hyperkeratotic plaques
favours knees, elbows, extremities
PPK common (connexin disorder)

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20
Q

Tx for PSEK?

A

keratolytics, PO retinoids, PUVA reported

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21
Q

genetics of EKV and PSEK?

A

AD»> AR
connexin disorders: GJB3 and GJB4 in EKV
GJB4 in PSEK

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22
Q

cutaneous presentation of KID?

A

erythroderma at birth -> hyperkeratotic plaques with well demarcated borders
face = radial furrows
chelitis prominent (also a/w candida and staph)
recurrent Candidiasis
increased SCC (cutaneous and mucosal)
stripped palmoplantar keratoderma (connexin d/o)
nail, hair, dental abn
also epidermoid/pilar cysts
follicular occlusion triad (acne, dissecting cellularitis, HS)
stomatitis

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23
Q

extracutaneous features of KID?

A

congenital sensorineural hearing loss

progressive keratitis with corneal neovascularizaitno, conjunctivitis in 95%

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24
Q

Tx for KID?

A

emollients, keratolytics, TO/PO retinoids, hearing aids,

    • treat infections
  • regularly screen for SCCs (10-20%)
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25
Q

Gene and inheritance for Netherton syndrome? What does it code for?

A

SPINK5, AR -> encodes for LEKTI which is some sort of granule storage mediator

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26
Q

3 hair shaft abn of Netherton?

A

trichorrhexis invaginata classic
trichorrhexis nodosa
pili torti

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27
Q

 What is the triad of Netherton syndrome?



A

atopy/autoimmune dysregulation + ichthyosis linearis circumflexa + trichorrhexis invaginata

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28
Q

 What is the presentation of icthyosis linearis circumflexa?

A

serpiginous/polycyclic scaly plaques on trunk/extremities/scalp
DOUBLE edged scale (2 collars)

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29
Q

List 3 other cutaneous features of Nethertons?

A

AD
hair shaft abn
nail abn possible
generalized erythroderma/continuous peeling possible

increased SCC reported, along with HPV

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30
Q

Autoimmune dysregulation in NEthErTI7?

A

hyper IgE of serum - urticaria, angioedema, allergies incr

increased IL 17

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31
Q

Tx for Netherton?

A 
symptomatic: ICU, calories at birth
TO emollients, keratolytics, tretinoin
ABx PRN
antihistamines for pruritis
reports of PUVA
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32
Q

 List 6 features of Sjogren – Larsson syndrome?



A 
congenital ichthyosis
spastic plegia
bone abnormalities
developmental delay
PPK
perifoveal glistening white dots on fundus
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33
Q

Pathonomonic finding in Sjogren-Larsson syndrome?



A

perifoveal glistening white dots on fundus

MA: sjogren has dry eyes -> white dry dots on fundus

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34
Q

Gene for Sjogren-Larsson and inheritance?

A

ALDH3A2 - involved in ceramide recycling

AR (aldéhyde)

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35
Q

Clinical for Sjogren-Larsson?

A
  1. congenital ichthyosis
  2. spastic plegia
  3. developmental delay
    erythema/hyperkeratosis/scaling -> erythema resolves, hyperkeratosis persists and becomes darker
    gait issues, contractures, spasticity
    white matter dz of the brain
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36
Q

test for Sjogren-Larsson syndrome

A

Fatty aldehyde dehydrogenase in fibroblasts (FALDH)

37
Q

Tx for Sjogren - Larsson syndrome

A 
derm + optho + neuro + ortho
topical keratolytics, vit D, skin hydration
systemic retinoids
anticonvulsive agents
fat reduced diets not helpful
38
Q

Features of neural lipid storage dz with ichthyosis?

A 
generalized fine scale +- erythema
hearing impairment
cataracts
dev delay
hepatomegaly (fatty degeneration)
39
Q

Pathognomonic finding in Neutral lipid storage disease with ichthyosis (NLSDI)?

A

blood smear showing lipid vacuoles in blood cells

40
Q

Trichothiodystrophy - inheritance?

A

ERCCC2 ERCC3
eric likes tigers
AR

41
Q

What does PIBIDS stand for

A 
P - photosensitivity
I - ichthyosis
B- brittle hair
I - intellectual impairment
D - decreased fertility
Short stature
42
Q

hair findings in Trichothiodystrophy?

A

“tiger hair” - trichoschisis - transverse hair fractures
trichorrhexis nodosa
pili torti

43
Q

Tx in thrichothiodystrophy

A

sun protection, humectant, systemic retinoids

44
Q

What is an ocular finding in Refsum dz?

A

REfsum -> REtinitis pigmenosa

also peripheral neuropathy, cranial nerve deafness, fine white scale

45
Q

What must be reduced in Refsum (no longer featured prominently in Bologna )

A

phytanic acid in diet
REFSUM - REtinitis pigmentosa
Fytanic acid = phytanic acid

46
Q

Two ichthyoses with increased SCC?

A

Kid who goes North, but ends up SSouth CIEs sunset
Netherton + KID
CIE - congenital ichthyosiform erythroderma

47
Q

List 6 ddx for neonatal erythroderma?

A 
syndromic incl hair stuff:
Netherton syndrome 
Conradi Hunnerman Happle
KID
Neutral lipid storage dz with ichtyosis
Thrichotiodystrophy

non-syndromic
epidermolytic ichthyosis
congenital icthyosiform erythroderma
steroid sulfatase deficiency

48
Q

gene in ichthyosis vulgaris and MOI?

A

FLG (filaggrin), loss of cunction

AD semidominant

49
Q

what does filagrin do?

A

profilaggrin - major component of keratohyalin granules in granular layer

profilagrin -> filagrin -> aggregate keratin intermediate filaments which get cross-linked in cornfield envelope -> impaired cornification, TEWL, penetration of allergens and irritants

50
Q

what is ichthyosis vulgarism a/w (4 conditions)

A

atopic derm
hand eczema
nickel contact
irritant derm

also KP, asthma, hayfever (connect in your mind to AD)

51
Q

clinical presentation of ichthyosis vulgaris

A

fine scales at extensors (dry parts of body)
sparing of flexures and groin (moist)
may have larger scale on lower legs
palmar hyperlinearity

52
Q

prognosis of ichthyosis vulgaris?

A

improves w/ age, 1 in 100-250/ppl

53
Q

% of kids with ichthyosis vulgaris who have AD?

A

25-50%

54
Q

ultrastructural/path findings in ichthyosis vulgaris?

A

decreased granular layer (disorder of keratohyaline granules)
decreased/absent filagrin immunostaining
mild orthokeratosis and hyperkeratosis

55
Q

tx for ichthyosis vulgaris?

A

emollients esp ceramides
humectants (keep water in the skin)
moisturizing cleansers, humidifiers
glycolic, sal acid -> careful about toxicity
TO retinoids vit D -> irritation, ineffective
PO retinoids -> rarely needed

56
Q

Gene and inheritance pattern in steroid sulfatase deficiency?

A

STS, XLR

57
Q

cutaneous features of steroid sulfatase deficiency?

A

large dark scale
++ scale on neck and lateral face (“dirty neck” dz)
neonatal - mild erythroderma

58
Q

non-cutaneous features of steroid sulfatase deficiency?

A

in moms: failure of labour to progress
corneal opacities (10-50%)
cryptorchidism, hypogonadism, incr. testicular maldescent and incr testicular Ca

59
Q

Tx for steroid sulfatase deficiency?

A

humectants, keratolytics, retinoids (to> po)

60
Q

Name 3 non-syndromic AR congenital ichthyoses?

A

HI LIe CIE (hello sky)
harlequin ichthyosis
lamellar ichthyosis
congenital icthyosiform erythroderma

61
Q

Gene and inheritance in lamellar ichthyosis?

A

TGM1, ar (the same one in collodion baby)

|&raquo_space; ABCA12, others

62
Q

Clinical presentation of lamellar ichthyosis? how is it different from ichthyosis vulgaris?

A

Lamellar ichthyosis: collodion baby -> large plate-like brown scales
Ichthyosis vulgaris: no collodion -> fine, thin scale

other features of lamellar ichthyosis:
bathing suit ichthyosis possible
collodion presentation: ectropion, eclabium, alopecia, hypoplasia of nasal/ear cartilage
macaronis, conjunctivitis, incomplete lid closure

note lamellar ichthyosis -> collodion -> scale; no erythroderma

63
Q

Tx for lamellar ichthyosis?

A 
collodion baby care
PO retinoids
keratolytics
ophthalmology if ectropion
patient advocacy
64
Q

inheritance of congenital ichthyosiform erythroderma?

A

TGM1 #1 (AR), ABCA12, ALOXE3, etc (same as lamellar ichthyosis

65
Q

clinical of congenital ichthyosiform erythroderma?

A

collodion baby -> generalized erythroderma and scaling for life
has palm/sole involvement with fissuring and hyper linearity
ectropium, scarring alopecia possible
obstruction of sweat ducts -> hypohidrosis/heat intolerance
2’ nail dystrophy, onychomycosis, flexion contractions
increased risk of SCC and BCC

ichthyosis vulgaris = no collodion, mild scale
lamellar ichthyosis = collodion, plate like scale no erythroderma
congenital ichthyosiform erythroderma = collodion, erythroderma AND scale

66
Q

Inheritance of harlequin ichthyosis?

A

ABCA12, ar

67
Q

Clinical of harlequin ichthyosis?

A

very thick arbor-like stratum corneum (unlike collodion which is much thinner) -> cracks into yellow grown plates with rhomboid scale -> deep bright red fissures -> dehydration, electrolyte imbalance, T instability, infections
ectropion, eclabium, ear nasal cartilage deformity

survivors - CIE like phenotype

68
Q

Extracutaneous features of harlequin ichthyosis?

A

premature delivery
frequent neonatal dealth due to sepsis or respiratory insufficiency
microcephaly from tautness
1/2 survive beyond neonates -> severe ichyosiform erythroderma, PPK, heat intolerance, ocular problems, joint contracture

69
Q

Tx for harlequin ichthyosis?

A 
ICU to monitor temp, lytes, fluids, infections, resp
humidified incubator hepful
do not peel scale
optho care
systemic retinoids at 1mg/kg/d
70
Q

ddx for collodion baby - give 7?

A 
SuCCuLENTS (waxy like collodion)
Sjogren-Larson
Congenital Ichthyosiform erythroderma
Conradi-Hunermann-Happle
Lamellar Ichthyosis
Ectodermal dysplasias
Netherton
Trichothiodystrophy
Self-improving collodion ichthyosis (SICI)
71
Q

Clinical of collodion baby?

A

taught shiny transparent membrane from thickened stratum corneum, “plastic-wrap” like
ectropion, eclabium, hypoplasia of nasal and auricular cartilage
gradually cracks and dries -> impaired transepidermal barrier -> TEWL, infections, late imbalance, sepsis -> circular bands can lead to vascular constriction and edema

72
Q

MC cause of collodion baby?

A

congenital ichthyosiform erythroderma or lamellar icthyosis

self-improving collodion ichthyosis also possible with normal skin underneath

73
Q

Tx for collodion baby?

A

ICU at birth for thermostability, hypernatremic dehydration, sepsis, infection, lung function
humidified incubator helps
do not remove skin manually due to infection

74
Q

Which ichthyosis has congenital absence of hair?

A

ichthyosis follicular with atricia and photophobia

75
Q

name 3 ichthyoses with hearing impairments?

A 
KID*
neural lipid storage dz with icthyosis
Refsum
Conradi
CHILD*
76
Q

name 3 icthyoses w/ ocular abn?

A 
KID 
CHH
NLSD with icthyosis
trichotiodystrophy
Refsum
Sjogren alrson
77
Q

Name 4 keratinopathic icthyoses?

A 
epidermolytic icthyosis
superficial epidermolytic ichthyosis
ichthyosis hystrix Curth Macklin
Icthyosis Hystrix - descriptive term
Ichthyosis en confetti
78
Q

keratin mutation in epidermolytic ichthyosis?

A

KRT 1, KRT 10 , AD
KRT 1 in PP skin -> PPK
KRT 10 mutated only -> no PPK due to compensation

79
Q

clinical of epidermolytic ichthyosis?

A

erythroderma, blistering at birth -> cobblestone pattern hyperkeratosis over joints, ridging along skin lines at flexures, palmoplantar involvement +- pseudoainhum and blistering/fragility

80
Q

path of epidermolytic ichthyosis?

A

epidermolytic hyperkeratosis -> unique vs other icthyoses:
dense orthokeratotic hyperkeratosis
acanthosis
hypergranulosis
cytolysis of supra basal/granular layer - > intraepidermal blisters
mild perivasc infiltrate

81
Q

Tx for epidermolytic ichthyosis?

A

neonatal - > ICU (dehydration, hates, padded bed, Abx, lubricants ) - > erosions heal
than keratolytics, to retinoids, emollients, antiseptics, PO retinoids, preventing trauma

82
Q

Mutation/inheritance in superficial epidermolytic ichthyosis?

A

KRT 2, AD

83
Q

Clinical of superficial epidermolytic ichthyosis?

A

spares palms and soles (no keratin 1 mutation)
normal at birth or mild blistering
colarette like borders with molding due to superficial blistering - looks like tight shoes

84
Q

KRT mutation in ichthyosis hysterix Curth Macklin?

A

KRT 1, AD

85
Q

Clinical of ichthyosis hystrix Curth Macklin

A

like epidermolytic ichthyosis but no skin fragility
mild to severe, from severe mutilating PPK to localized hyperkeratosis
PSEUDOAINHUM, starfish like keratoses, knuckle pads, digital flexion contractors, 2’ bacterial infections
*hystrix - porcupine

86
Q

Clinical of Icthyosis Hystrix?

A

descriptive term for ++ hyperkeratosis

87
Q

mutation in Icthyossi en confetti?

A

KRT10, AD

ichthyosiform erytrhoderma + PPK

88
Q

clinical of ichthyosis en confetti?

A

100-1000s of confetti “islands of normal skin”

89
Q

you got this?

A

yes

Genoderms - Tet (6 decks)

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