? Disorders of cornification
? Abnormal differentiation and desquamation of the epidermis result in a
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defective epidermal barrier.? Clinically all `Ichthyoses' have generalized scaling of the skin
? Erythrokeratodermas: circumscribed areas of erythema and hyperkeratosis
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without obvious scaling.ICHTHYOSES
? Disorder of keratinization that manifests as dry and scaly skin resembling
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`fish skin'? Ichthys=fish
? Two broad types
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1. Defects in keratin or intercellular substances(lipids, fillagrin) , limited to skin2. Metabolic disease with involvement of other organs
TYPES OF ICHTHYOSES
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Congenital ichthyoses? Ichthyosis vulgaris
? X linked ichthyosis
? Lamel ar ichthyosis
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? Epidermolytic ichthyosis? Non Bul ous Ichthyosis erythroderma
? Epidermolytic ichthyosis (bul ous CIE)
? Superficial epidermolytic ichthyosis (ichthyosis bul osa of
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Siemens)? Ichthyosis hystrix Curth?Macklin
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ICHTHYOSIS VULGARIS? Autosomal dominant with high penetrance
? Molecular defect: Fil agrin deficiency in epidermis
? Resulting in retension hyperkeratosis
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? Age of onset : 1-4 yrs? Prevalence : 1 in 300
? Improvement in summer
? Lesions persists life long
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ICHTHYOSIS VULGARIS? Scaling : generalized
? Dirty brown polygonal scales: legs
? Fine, adherent scales on trunk, extremities
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? Face, flexures spared? Asymptomatic
? Asso. Features-
? increased palmer lines, furrowed heels
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? Keratosis pilaris? Atopic dermatitis
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? Treatment
? Emolients , glycerine
? 10 % Urea cremes
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? Kerolytic cremes with lactic andsalicylic acid
? Systemic acitretin rarely used
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X LINKED RECESSIVE ICHTHYOSIS
Prominent dark-brown scales - lower legs.
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? X linked recessiveSmal er dark-brown scales -trunk, with sparing of skin folds
? Males (females carrier)
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? Defect : Steroid sulfatase deficiency? Age in onset: infancy
? Fine to large, dark, adherent scales
? Extremities, trunk, neck and lateral face
? Preauricular area involvement: pathognomic
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? Involves flexures? Neck:almost invariably involved, "dirty neck".
? Palms, soles spared
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X LINKED RECESSIVE ICHTHYOSISDark scales on the neck, "dirty neck".
? Asso. Features
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? Cryptorchidism? Corneal opacity
? Failure of spontaneous labour in carrier
females
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? Topical
? Humectants- Propylene glycol
? Keratolytics ? salicylic acid
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? Retinoids? Systemic Retinoids ? rarely necessary
LAMELLAR ICHTHYOSIS
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? Autosomal recessive
? Transglutaminase-1 deficiency
? This enzyme is expressed in upper layers of the epidermis,
? facilitates formation of the cornified cel envelope by cross-linking numerous
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structural proteins to the lipid envelope.
? Age of onset: Birth as col oidion baby
? Persists throughout life
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LAMELLAR ICHTHYOSIS
? Over the first weeks , the col odion membrane is replaced by generalized scales.
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? Scales are large, brown, plate-like:mosaic or bark-like pattern? scales are central y attached with raised borders, often leading to superficial fissures.
? minimal to no associated erythroderma
? Asso.
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? Heat intolerance : Intraepidermal constriction of sweat ducts? Scarring alopecia,
? Eclabium
? Severe ectropion - madarosis, conjunctivitis, incomplete lid closure with ensuing keratitis.
? Palmoplanter keratoderma
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LAMELLAR ICHTHYOSIS
? Neonatal care as in col odion babies.
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? Oral retinoids: Acitretin from early childhood.? Topical
? Vitamin D3 derivatives,
? Tazarotene
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? Lactic acid and? Propylene glycol
HARLEQUIN ICHTHYOSIS
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? Autosomal recessive? Rare
? Age of onset: Birth
? Very thick, yel ow?brown plates of scale that tightly encase the
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neonate: ARMOR like? severe immobilization and restricts ventilation
? Extreme ectropion,
? Eclabium
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? Ear deformities? Microcephaly
HARLEQUIN ICHTHYOSIS
? Shortly after birth, the hyperkeratotic cast cracks
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? Large, yel ow, adherent plates? Broad, deep, intensely red fissures
? Increased transcutaneous loss of water, electrolyte imbalances
temperature instability.
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? Skin infections or sepsis
? Hands and feet are edematous , covered by a mitten-like casing
? Autoamputation
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HARLEQUIN ICHTHYOSIS? Premature delivery
? Neonatal death common : sepsis or respiratory insufficiency
? Survivors develop severe CIE-like phenotype
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? Early administration of acitretin (1 mg/kg/day)
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA (CIE)
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? Autosomal recessive
? Asso. Features
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? Age of onset : Birth? Heat intolerance;
? Frequently col odion membrane at birth;
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? variable scarring
? Generalized fine, white scale with a
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? alopecia,"powdery" consistency
? Ectropion
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? erythroderma
? Treatment
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? palms and soles - diffuse, fissuringkeratoderma
? increased intake of fluids, calories, iron and
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protein
Congenital ichthyosiform erythroderma.
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Intense redness and fine, flaky, white scale on the trunk and arms.Close-up of fine white coarser yel owish scale in a background of prominent
erythema.
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BULLOUS CONGENITAL ICHTHYOSIFORMERYTHRODERMA
? Autosomal dominant
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? Heterozygous mutations in the genes encoding keratin 1 (KRT1) and keratin 10(KRT10)
? These keratins expressed in spinous and granular layers
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? Age of onset : birth? Erythroderma, peeling, erosions and widespread denuded areas
? Skin fragility, blistering and erythema decrease over time
? Hyperkeratosis develops later during infancy and prevails
? Sepsis, fluid and electrolyte imbalance in the neonatal period : life threatening
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BULLOUS CONGENITAL ICHTHYOSIFORM
ERYTHRODERMA
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? Episodes of blistering and? Management in NICU as col oidion baby
secondary skin infections
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problematic later in life
? Later ? hyperkeratosis
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? Accompanied by a pungent body? Keratolytic creams
odor,
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? emol ients and humectants
? Associated posture and gait
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? antibacterial soaps, chlorhexidine orabnormalities.
dilute sodium hypochlorite baths to
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? Tremendous impact on patients'
control bacterial colonization
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quality of life? Low doses systemic Retinoids
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ERYTHROKERATODERMA VARIABILIS? Autosomal dominant
? Coexistence of transient erythematous patches and stable hyperkeratotic plaques
? One of these features frequently predominates
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? Age of onset : at birth or within first year? Erythema - variable intensity, persist for min to hours
? Sharply demarcated, yel ow? brown thickened hyperkeratotic plaques with
geographic borders on limbs, buttocks, trunk
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? Symmetric distribution
? Topicals for mild diseases
? Keratolytics (e.G. Lactic acid, urea, -hydroxy acids)
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? Retinoids (e.G. Tretinoin, tazarotene)? Systemic retinoids ? acitretin, isotretinoin for more extensive disease
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COLLODION BABY? At birth, neonate is covered with a taut, shiny, transparent membrane, resembling a
plastic wrap
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? Membrane formed by thickened stratum
? Tautness of the membrane leads to
? ectropion,
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? eclabium? hypoplasia of nasal,auricular cartilage.
? At risk for
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? thermoinstability,? hypernatremic dehydration,
? skin infections and sepsis.
? Pneumonia due to restricted ventilation and aspiration of amniotic fluid containing scales.
? Sucking impaired- malnutrition
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COLLODION BABY
? After birth, membrane dries, cracks and breaks
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? Fissures ?? impair epidermal barrier function,
? percutaneous loss of water - fluid and electrolyte imbalances,
? entry of microorganisms; skin infections, sepsis
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? Circular bands of hardened skin - vascular constriction, distal
edema.
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? In two weeks, membrane peels off in sheets? Transition to the underlying disease phenotype takes place
Col odion baby.
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Day 1: eclabium.Day 8 : erythema,
diffuse mild scaling,
misshapen ears.
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COLLODION BABYCol oidon baby seen in
? Lamel ar ichthyosis
? Congenital ichthyosiform erythroderma
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? Self-healing/self-improving col odion babyTreatment ? NICU- humidified incubator
? protective isolation to prevent infection
? prevent or treat dehydration, electrolyte imbalance
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? protective padding and lubricants? wet compresses,light emol ients on skin
? Prevent dehydration , dyselectrolytemia, hypothermia, infection
A NEONATE/YOUNG INFANT WITH A
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COLLODION MEMBRANE/ICHTHYOSIS
? Complete blood count, electrolytes, hepatic panel, immunoglobulin levels (including IgE)
? Peripheral blood smear
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? Light microscopic examination of clipped hairs (including eyebrow hairs)? Hearing screen
? Ophthalmologic examination
? Consider skin biopsy,
? Consider X-rays to evaluate epiphyses, especial y if ichthyosiform lesions are in a
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mosaic distribution pattern