Congenital ichthyosis

 The word ichthyosis comes from the Greek word for a
fish.
 ichthyosis : is a group of disorders that are characterized
by a persistent, non-inflammatory scaling disorder of the
skin surface.
 It is caused by abnormality in keratinization and
exfoliation of the horny cell layer.

 The ichthyoses are a clinically and genetically
heterogeneous group of skin disorders,
characterized by a diffuse, generally uniform and persistent
pattern of scaling without mucosal or extracutaneous
(except in ichthyosiform syndromes) involvement.

 Cutaneous features can be isolated (non syndromic ichthyosis),
or associated with extra-cutaneous (syndromic ichthyosis)

Types of Non syndromic ichthyosis
Congenital ichthyosis
Ichthyosis vulgaris
X-linked ichthyosis
Bullous congenital ichthyosiform erythroderma (BCIE)
Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Lamellar ichthyosis
Acquired ichthyosis
Acquired ichthyosis
Types of syndromic ichthyosis
Sjögren-Larsson syndrome
Netherton syndrome
KID syndrome
Refsum syndrome
Rud syndrome

Congenital ichthyosis
Ichthyosis vulgaris
X-linked ichthyosis
Bullous congenital ichthyosiform erythroderma (BCIE)
Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Lamellar ichthyosis

 It is the common inherited disorder.
 inheritance is autosomal dominant
Etiology :
 caused by mutation in the gene coding for
filaggrin, a key protein involved in skin barrier
function.
 Decreased convesrion of Profilaggrin to
Filaggrin.

Pathogenesis :
 decrease in the production of filaggrin,defective aggregation of
Keratin intermediate filaments,
 abnormal exfoliation and dryness and scaling
 Keratohyalin synthesis is affected because of the filaggrin
mutation.
 Filaggrin is an epidermal protein that normally functions as a
barrier molecule against environmental allergens, water loss,
and infection
Pathology :
There is thickening of the horny cell layer
reduction or loss of granular cell layer.

Histopathology:
 Mild hyperkeratosis
 diminished or absent granular layer in the epidermis.
 The dermis is normal.
 Electron microscopy reveals scanty and fragmented
keratohyaline granules in granular layer cells

 Diminished or absent
granular layer
 Absent of filaggrin with
immunostaining

 Age of Onset :
early 3 – 12 months of age
Clinical features :
 This is the mildest form of ichthyosis.
 main symptoms are dryness and scaling of the skin (fine
scale).
 Present, mostly on the extensor surfaces of extremities and
trunk.
 back > abdomen ,extensor surface > flexor surface

 Scaling is most prominent over the trunk, abdomen, buttocks
and legs.
 The flexural areas, such as the antecubital fossa, are spared.

 The symptoms subside during the summer and aggravate
during the winter
 scaling may be present on the eyelid skin,punctate
epithelial keratitis and recurrent corneal erosion
 Linkage analysis has identified an ichthyosis vulgaris
locus on band 1q22

 An association may be present between ichthyosis vulgaris
and atopic diseases
 Mutations in the coding of the filaggrin gene have been
identified in both ichthyosis vulgaris and atopic dermatitis.
 Treatment : symptomatic treatement

 Its uncommon type
 Etiology : It is caused by loss or marked reduction of steroid
sulfatase enzyme
 delayed exfoliation of the horny cell layer.
 inheritance : X-linked recessively inherited,male children
 Its k/a Ichthyosis nigra due to dark brown scales

Pathogenesis :
 the lack of steroid sulfatase causes accumulation of
cholesterol sulfate, leading to delayed exfoliation of horny
cells and hyperkeratosis
Histopathology :
 Thickening of the horny cell layer.
 normal or mildly thickened granular and suprabasal cell
layers.

 Compact
hyperkeratosis
 Accentuated granular
layer

Clinical features:
 ichthyosis manifests shortly after birth and does not improve
with age.
 The symptoms are severer than ichthyosis vulgaris,
 the scales are large and dark brown.
 The scalp also scaly.
 Eruptions also appear on the flexures of joints.
 The whole body of newborns may be encased in a translucent
covering (collodion baby) .

Scales : Large & DARK BROWN more
Prominent over flexural areas

Complication :
 Corneal opacification may occur.
 White opacities in slit lamp &
blue arc
D.D:
 ichthyosis vulgaris is differentiated from X-linked ichthyosis by
the decrease of steroid sulfatase in the case of the latter.

Treatment:
 symptomatic and the same as those for ichthyosis vulgaris
 The retinoids drugs may give good improvements, but the
side effects limit their use in infants and young children.

Etiology :
 Defect in Transglutaminase – 1 enzyme
 its a calcium-dependent enzyme that is necessary for the
formation of cornified cell envelopes in keratinocytes
Age of onset : begins usually at birth
Inheritance : as an autosomal recessive trait (AR).
K/a ARCI

 The transglutaminase 1 enzyme is involved in the
formation of the cornified cell envelope
 The formation of the cornified cell envelope is an essential
for normal intercellular lipid layer formation in the
stratum corneum.
 mutations cause defects in the intercellular lipid layers in
the stratum corneum, leading to defective barrier function
of the stratum corneum

6 genes for lamellar ichthyosis have been localized and 5 of them
 TGM1 (14q11)
 ABCA12 (2q34)
 19p12-q12
 19p13
 ALOXE3-ALOX12B (17p13)
 ichthyin (5q33)

 The areas involved in mild cases are the antecubital,
popliteal and the neck
 The palms and soles may present with mild hyperkeratosis(
PPK)
 Ectropion

 Hyperkeratosis
,Hypergrannulosis
 Parakeratosis
 Prominent rete ridges
Mild perivascular
infiltrate in the upper
dermis and mitosis

 Skin biopsies can aid in the diagnosis of lamellar ichthyosis
and detection of transglutaminase-1 expression.
 At birth, electron microscopy can be used to differentiate a
severe collodion baby affected by lamellar ichthyosis from a
baby affected by harlequin ichthyosis by demonstrating the
absence of the marginal band

Bathing suit ichthyosis:
 unique clinical form of autosomal recessive congenital
ichthyosis
 characterized by marked scaling on the bathing suit
areas but sparing of the extremities and the central face.
 caused by transglutaminase-1 deficiency
 it is a temperature-sensitive phenotype

Shedding of membrane
Ichthyosiform
Erythroderms

 it is rare disorder
 autosomal dominantly inherited
 sometimes born as collodion babies
 Diffuse flushing and blistering recur for several weeks after
birth

 intermediate filament of suprabasal cells composed of keratin
1 and keratin 10.
 Because of mutation in the keratin 1 or keratin 10 gene
 abnormal keratin fiber formation & cytoskeleton distortion
 epidermal blistering occur, leading to secondary thickening
of the horny cell layer

 The horny and
suprabasal cell
layers thicken.
 Vacuolar
Degeneration of the
granular cell layer

 At birth child looks as Burned with widespread blisters &
erosions
 May have verrucous,dirty,firm, hyperkeratotic (hystrix)
spines over erythematous background often in flexural
creases
 blisters

 may have erythroderma
 palmar/plantar keratoderma
 Frequent skin infections
 characteristic pungent odor due to super infection
by mixed flora

D.D :
 epidermolysis bullosa
 incontinentia pigmenti
 impetigo contagiosa
 Treatment : oral retinoid and application of
moisturizer

 It is rare autosomal recessively inherited
 Most of the patients are born as collodion babies.
 The affected sites include the flexures of joints.
 Defects in enzymes Trans glutaminase ,Two
Lipoxygenases

 Six or more genes are thought to be associated with
occurrence of NBCIE.
 the mechanism of NBCIE is known to be a
marked decrease in physical and functional
strength of keratin

 Born as Collodion babes
 Covered by fine white scales, 2-3 days after birth, the
collodion covering exfoliates,
leaving the whole body surface
with diffuse flushing and scaling

 Scarring alopecia,short stature,
 Cardiac anomolies
 Erythroderma,
 ectropion

 NBCIE progresses until the age of 10,at which point it stops
and subsides.
 Oral retinoid (a vitamin A derivative) is effective.
 The skin should be kept clean to prevent secondary infection.

 very rare condition
 autosomal recessively inherited
 There is abnormality of the lamellar granules in harlequin
ichthyosis
 Abnormalities of Profilaggrin & K 6,K16
 Ichthyosis Congenita Gravis

 In Italy,Comic
servants characters
from Italian
commedia dell’arte
 In french ,Black faced
emissary of devil
,chasing damned
souls of evil people to
hell

 Baby skin affected in Utero
 patient is covered with an extremely thick stratum corneum
at birth causing thick, horny, armor-like plates that cover the
entire skin surface.
 Cracks in the skin
 ectropion of eyelids
 eclabium,Ears absent

 difficulty of opening the mouth are so severe
that most patients die within 2 weeks after
birth,still birth
Abnormal Lamellar Bodies
Under EM

Neonate after retinoid theraphy after 6 months

Ultrasound findings:
 Head: cracked skin; open eyes, due to severe eversion of the
eyelids (ectropion); wide lips, (eclabium)
 Skin: thickened with multiple fissures
 Extremities: deformation, hypoplasia of fingers and toes
 3D ultrasound helps to make the diagnosis.

thickened, Harlequin lips cracked skin on the fetal face

Transverse view of the fetal abdomen on
the image shows a thickened skin
with a crack indicated by arrow.
the foot with hypoplastic toes,

Differential diagnosis
 Sjögren-Larsson syndrome
 Netherton syndrome
 Gaucher disease
 Keratitis-ichthyosis-deafness syndrome
 Trichothiodystrophy ("sulfur-deficient hair")
 Chanarin-Dorfman syndrome
 Conradi-Hünermann syndrome (X-linked dominant
chondrodysplasia punctata)
 Hypohidrotic ectodermal dysplasia
 Bullous autosomal dominant ichthyoses

 In congenital ichthyosis syndromes, excessive intra-amniotic
debris and polyhydramnios on ultrasonography scanning in
utero may be the first indication of disease
 Using USG in utero, fetal foot length may be an important &
first marker, seen in the second trimester, for the diagnosis of
harlequin ichthyosis
 Other findings may include a persistently open mouth, dense
amniotic fluid, and fixed flexion of the extremities.

 low maternal serum unconjugated estriol during pregnancy
screening may be a good indication of placental STS deficiency
and X-linked recessive ichthyosis
 Microdeletion of STS gene can be confirmed by fluorescence in
situ hybridization (FISH) analysis of cultured amniotic fluid in X-
linked ichthyosis
 Prenatal diagnosis of lamellar Ichthyosis can be made by direct
mutational analysis of the keratinocyte transglutaminase gene

Congenital ichthyosis

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