What are the AR congenital ichthyoses? Mnemonic?
ARLICH
What are the AD congenital ichthyoses? Mnemonic?
ADVERBS
What are the syndromic ichthyoses?
SPINK-E
What are the X-linked dominant and X-linked recessive ichthyoses?
XLD: Conradi-Hummerman-Happle, CHILD
XLR: X-linked ichthyosisW
What does CHILD stand for?
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) causing skin issues and limb defects, usually on one side of the body
What are the clinical patterns to look for in an ichthyosis?
Diagram for congenital ichthyoses?
What is the first thing to look for in a scaly, not red pt?
Isolated or syndromic
Then if isolated: for flexural involvement
Approach to a pt that is scaly and red (erythrodermic)
- ## see if isolated or syndromic
What is isolated and patterned erythema?
isolated or syndromic –> isolated = EKV, EKP; syndromic = NECCK
What is blistering? approach?
Odour or malodour
Features of ichthyosis vulgaris?
Common!
Improves w age
AD tendency, dry
Features of X-linked ichthyosis?
Features of lamellar ichthyosis?
TGM-1 mutations
What is mutation in bathing suit ichthyosis?
Subset of lamellar ichthyosis
TGM-1 mutation is temp sensitive
Most common cause of congenital ichthyosiform erythroderma?
CIE
Features of Harlequin ichthyosis
Most common form of death resp failure or sepsis from skin infections
Risk factors in ichthyosis w confetti?
Increased risk SCC development
What are the two common erythrokeratodermas?
EK variabilis and EK progressiva
Describe this. What condition is it seen in?
Ichthyosis linearis circumflexa
Netherton’s
SPINK5 mutation
Very itchy
What is this hair condition
Trichorrhexis invaginata, seen in Netherton’s
Clinical features of Netherton’s?
Mutation = SPINK5 encoding LEKTI1
what is the name of this condition? describe it
CHILD - Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) causing skin issues and limb defects
Features and inheritance of Conradi-Hummerman-Happle?
