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Genoderms - Tet > Icthyoses > Flashcards

Icthyoses Flashcards

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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
Gene and inheritance for Netherton syndrome? What does it code for?
SPINK5, AR -> encodes for LEKTI which is some sort of granule storage mediator
26
3 hair shaft abn of Netherton?
trichorrhexis invaginata classic trichorrhexis nodosa pili torti
27
 What is the triad of Netherton syndrome? | 
atopy/autoimmune dysregulation + ichthyosis linearis circumflexa + trichorrhexis invaginata
28
 What is the presentation of icthyosis linearis circumflexa?
serpiginous/polycyclic scaly plaques on trunk/extremities/scalp DOUBLE edged scale (2 collars)
29
List 3 other cutaneous features of Nethertons?
AD hair shaft abn nail abn possible generalized erythroderma/continuous peeling possible increased SCC reported, along with HPV
30
Autoimmune dysregulation in NEthErTI7?
hyper IgE of serum - urticaria, angioedema, allergies incr | increased IL 17
31
Tx for Netherton?
``` symptomatic: ICU, calories at birth TO emollients, keratolytics, tretinoin ABx PRN antihistamines for pruritis reports of PUVA ```
32
 List 6 features of Sjogren – Larsson syndrome? | 
``` congenital ichthyosis spastic plegia bone abnormalities developmental delay PPK perifoveal glistening white dots on fundus ```
33
Pathonomonic finding in Sjogren-Larsson syndrome? | 
perifoveal glistening white dots on fundus | MA: sjogren has dry eyes -> white dry dots on fundus
34
Gene for Sjogren-Larsson and inheritance?
ALDH3A2 - involved in ceramide recycling | AR (aldéhyde)
35
Clinical for Sjogren-Larsson?
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
36
test for Sjogren-Larsson syndrome
Fatty aldehyde dehydrogenase in fibroblasts (FALDH)
37
Tx for Sjogren - Larsson syndrome
``` derm + optho + neuro + ortho topical keratolytics, vit D, skin hydration systemic retinoids anticonvulsive agents fat reduced diets not helpful ```
38
Features of neural lipid storage dz with ichthyosis?
``` generalized fine scale +- erythema hearing impairment cataracts dev delay hepatomegaly (fatty degeneration) ```
39
Pathognomonic finding in Neutral lipid storage disease with ichthyosis (NLSDI)?
blood smear showing lipid vacuoles in blood cells
40
Trichothiodystrophy - inheritance?
ERCCC2 ERCC3 eric likes tigers AR
41
What does PIBIDS stand for
``` P - photosensitivity I - ichthyosis B- brittle hair I - intellectual impairment D - decreased fertility Short stature ```
42
hair findings in Trichothiodystrophy?
"tiger hair" - trichoschisis - transverse hair fractures trichorrhexis nodosa pili torti
43
Tx in thrichothiodystrophy
sun protection, humectant, systemic retinoids
44
What is an ocular finding in Refsum dz?
REfsum -> REtinitis pigmenosa | also peripheral neuropathy, cranial nerve deafness, fine white scale
45
What must be reduced in Refsum (no longer featured prominently in Bologna )
phytanic acid in diet REFSUM - REtinitis pigmentosa Fytanic acid = phytanic acid
46
Two ichthyoses with increased SCC?
Kid who goes North, but ends up SSouth CIEs sunset Netherton + KID CIE - congenital ichthyosiform erythroderma
47
List 6 ddx for neonatal erythroderma?
``` 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
gene in ichthyosis vulgaris and MOI?
FLG (filaggrin), loss of cunction | AD semidominant
49
what does filagrin do?
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
what is ichthyosis vulgarism a/w (4 conditions)
atopic derm hand eczema nickel contact irritant derm also KP, asthma, hayfever (connect in your mind to AD)
51
clinical presentation of ichthyosis vulgaris
fine scales at extensors (dry parts of body) sparing of flexures and groin (moist) may have larger scale on lower legs palmar hyperlinearity
52
prognosis of ichthyosis vulgaris?
improves w/ age, 1 in 100-250/ppl
53
% of kids with ichthyosis vulgaris who have AD?
25-50%
54
ultrastructural/path findings in ichthyosis vulgaris?
decreased granular layer (disorder of keratohyaline granules) decreased/absent filagrin immunostaining mild orthokeratosis and hyperkeratosis
55
tx for ichthyosis vulgaris?
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
Gene and inheritance pattern in steroid sulfatase deficiency?
STS, XLR
57
cutaneous features of steroid sulfatase deficiency?
large dark scale ++ scale on neck and lateral face ("dirty neck" dz) neonatal - mild erythroderma
58
non-cutaneous features of steroid sulfatase deficiency?
in moms: failure of labour to progress corneal opacities (10-50%) cryptorchidism, hypogonadism, incr. testicular maldescent and incr testicular Ca
59
Tx for steroid sulfatase deficiency?
humectants, keratolytics, retinoids (to> po)
60
Name 3 non-syndromic AR congenital ichthyoses?
HI LIe CIE (hello sky) harlequin ichthyosis lamellar ichthyosis congenital icthyosiform erythroderma
61
Gene and inheritance in lamellar ichthyosis?
TGM1, ar (the same one in collodion baby) | >> ABCA12, others
62
Clinical presentation of lamellar ichthyosis? how is it different from ichthyosis vulgaris?
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
Tx for lamellar ichthyosis?
``` collodion baby care PO retinoids keratolytics ophthalmology if ectropion patient advocacy ```
64
inheritance of congenital ichthyosiform erythroderma?
TGM1 #1 (AR), ABCA12, ALOXE3, etc (same as lamellar ichthyosis
65
clinical of congenital ichthyosiform erythroderma?
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
Inheritance of harlequin ichthyosis?
ABCA12, ar
67
Clinical of harlequin ichthyosis?
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
Extracutaneous features of harlequin ichthyosis?
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
Tx for harlequin ichthyosis?
``` ICU to monitor temp, lytes, fluids, infections, resp humidified incubator hepful do not peel scale optho care systemic retinoids at 1mg/kg/d ```
70
ddx for collodion baby - give 7?
``` SuCCuLENTS (waxy like collodion) Sjogren-Larson Congenital Ichthyosiform erythroderma Conradi-Hunermann-Happle Lamellar Ichthyosis Ectodermal dysplasias Netherton Trichothiodystrophy Self-improving collodion ichthyosis (SICI) ```
71
Clinical of collodion baby?
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
MC cause of collodion baby?
congenital ichthyosiform erythroderma or lamellar icthyosis | self-improving collodion ichthyosis also possible with normal skin underneath
73
Tx for collodion baby?
ICU at birth for thermostability, hypernatremic dehydration, sepsis, infection, lung function humidified incubator helps do not remove skin manually due to infection
74
Which ichthyosis has congenital absence of hair?
ichthyosis follicular with atricia and photophobia
75
name 3 ichthyoses with hearing impairments?
``` KID* neural lipid storage dz with icthyosis Refsum Conradi CHILD* ```
76
name 3 icthyoses w/ ocular abn?
``` KID CHH NLSD with icthyosis trichotiodystrophy Refsum Sjogren alrson ```
77
Name 4 keratinopathic icthyoses?
``` epidermolytic icthyosis superficial epidermolytic ichthyosis ichthyosis hystrix Curth Macklin Icthyosis Hystrix - descriptive term Ichthyosis en confetti ```
78
keratin mutation in epidermolytic ichthyosis?
KRT 1, KRT 10 , AD KRT 1 in PP skin -> PPK KRT 10 mutated only -> no PPK due to compensation
79
clinical of epidermolytic ichthyosis?
erythroderma, blistering at birth -> cobblestone pattern hyperkeratosis over joints, ridging along skin lines at flexures, palmoplantar involvement +- pseudoainhum and blistering/fragility
80
path of epidermolytic ichthyosis?
epidermolytic hyperkeratosis -> unique vs other icthyoses: dense orthokeratotic hyperkeratosis acanthosis hypergranulosis cytolysis of supra basal/granular layer - > intraepidermal blisters mild perivasc infiltrate
81
Tx for epidermolytic ichthyosis?
neonatal - > ICU (dehydration, hates, padded bed, Abx, lubricants ) - > erosions heal than keratolytics, to retinoids, emollients, antiseptics, PO retinoids, preventing trauma
82
Mutation/inheritance in superficial epidermolytic ichthyosis?
KRT 2, AD
83
Clinical of superficial epidermolytic ichthyosis?
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
KRT mutation in ichthyosis hysterix Curth Macklin?
KRT 1, AD
85
Clinical of ichthyosis hystrix Curth Macklin
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
Clinical of Icthyosis Hystrix?
descriptive term for ++ hyperkeratosis
87
mutation in Icthyossi en confetti?
KRT10, AD | ichthyosiform erytrhoderma + PPK
88
clinical of ichthyosis en confetti?
100-1000s of confetti "islands of normal skin"
89
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Genoderms - Tet (6 decks)

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