Harlequin

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Dr. Shantanu Gomase2nd year DNB

Dept. Of PediatricsJ.L.N.H. Bhilai Steel Plant

HARLEQUIN ICHTHYOSIS a case report

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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.

Harlequin

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