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HARLEQUIN ICHTHYOSIS
a case report
Dr. Shantanu Gomase
2nd year DNB
Dept. Of Pediatrics
J.L.N.H. Bhilai Steel Plant
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Clinical details
 Term
 Male
 2 kg
 Normal delivery
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 Head :Absence of hair
Hyperkeratotic scale
 Eyes: Severe ectropion is present.
Conjuctival congestion
 Pinna : Small and rudimentary.
 Nose : Flattened
 Lips: Severe traction on the lips
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 Skin:
Severely thickened skin with large,
shiny plates of hyperkeratotic scale.
Deep erythematous fissures separate
the scales.
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HARLEQUIN ICHTHYOSIS
The term harlequin derives from the newborn's facial
expression and the triangular and diamond-shaped
pattern of hyperkeratosis like that of a dress of
harlequin clown.
SYNONYMS : Ichthyosis congenita, keratosis
diffusa fetalis, harlequin fetus .
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 Internationally more than 100 cases have been
reported.
 Race: No racial predilection is known.
 Sex: No increased risk based on sex is known
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GENETICS
 Mutations in the ABCA12 gene on chromosome no
2 cause harlequin ichthyosis.
 Autosomal recessive inheritance.
 This disorder occurs in consanguineous
relationships and multiple siblings within a family
can be affected.
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CLINICAL FEATURES
SKIN
Severely thickened skin with
large and shiny plates of
hyperkeratotic scale is present
at birth.
Deep erythematous fissures
separate the scales.
Ears
Pinna may be small and
rudimentary or absent.
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EYES
Severe ectropion is present.
The free edges of the upper
and lower eyelids are everted,
leaving the conjunctivae at
risk for trauma.
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LIPS: Severe traction
on the lips causes
eclabium and a fixed,
open mouth.
NOSE: Nasal
hypoplasia and
eroded nasal alae
may occur.
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PATHOGENESIS
 All patients with harlequin ichthyosis have absent or
defective lamellar granules and no intercellular lipid
lamellae.
 These granules are responsible for secreting lipids
that maintain the skin barrier at the interface between
the granular cell layer and the cornified layer.
 The lipid abnormality is believed to allow excessive
transepidermal water loss; lack of released
hydrolases prevents desquamation, resulting in a
severe retention hyperkeratosis
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TREATMENT
 Ensure airway, breathing, and circulation after
delivery.
 Place infants in a humidified incubator.
 Monitor temperature, respiratory rate, heart rate, and
oxygen saturation.
 Maintain a sterile environment to avoid infection , IV
Antibiotics
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Intravenous access:
Peripheral access is difficult.
Umbilical cannulation may be necessary.
Eye care:
Ophthalmic lubricants to protect the conjunctivae.
Skin care:
Bathe infants twice daily.
Use frequent applications of wet sodium
chloride compresses followed by bland lubricants to
soften hard skin and to facilitate desquamation
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Fluid and electrolyte:
 Intravenous fluids are almost always required
 Consider excess cutaneous water losses in
daily fluid requirement calculations.
 Monitor serum electrolyte levels. A risk of
hypernatremic dehydration exists.
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 Retinoids
These agents decrease the cohesiveness of abnormal
hyperproliferative keratinocytes. They modulate keratinocyte
differentiation.
 Isotretinoin
0.5 mg/kg/d PO
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COMPLICATIONS
 Gram-positive and gram-negative sepsis.
 Relapses of severe ichthyosis with eclabium and ectropion
occur.
 Contractures and painful fissuring of the hands and the feet
may occur without adequate topical or systemic therapy.
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PROGNOSIS
 Fulminant sepsis remains the most common cause of
death in these infants.
 Life expectancy is unknown: A report of survival to 9
years of age has been published.
 Mortality/Morbidity: The mortality rate is high. With
neonatal intensive care and the advent of retinoid
therapy, some babies have survived they are still at
risk of succumbing to systemic infection, which is the
most common cause of death.
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PRENATAL DIAGNOSIS
 Amniotic fluid samples obtained as early as 17 weeks’
gestation have demonstrated hyperkeratosis and abnormal
lipid droplets within the cornified cells.
 Fetal skin biopsy can detect harlequin ichthyosis as early
as 20 weeks’ gestation
 Antenatal USG can be used to identify harlequin ichthyosis
but not until late in the second trimester when enough
keratin buildup is present to be sonographically detectable.
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THANK YOU
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