Diagnosis

The diagnosis of harlequin Ichthyosis (HI) relies on physical examination and certain laboratory examination including “Physical Assessment” at birth is very essential for the initial diagnosis of HI. The following findings may be noted at physical examination.

ü   Skin: Severely thickened skin with large, skinny plates of hyperkeratotic scale is present at birth. Deep, ‘erythematous fissure’ separate the scale.

ü   Eyes: Severe ‘ectropion’ is present. The free edges of the upper and lower eyelids are everted, leaving the conjunctivae at risk for desiccation and trauma.

ü   Ears: The pinnae may be small and rudimentary or absent.

ü   Lips: Severe traction on the lips causes ‘eclabium’ and a fixed, open mouth. This may result in feeding difficulties.

ü   Nose: Nasal hypoplasia and eroded nasal alae may occur.

ü   Extremities: The limbs are encased in the thick, hyperkeratotic skin, resulting in flexion contractures of the arms, the legs, and the digits. Limb motility is poor to absent. Circumferential constriction of a limb can occur, leading to distal swelling or even gangrene. ‘Hypoplasia’ of the fingers, toes, and fingernails is reported. ‘Polydactyly’ may also occur.

ü   Temperature Dysregulation: Thickened skin prevents normal sweat gland function and heat loss. The infants are heat intolerant and can become ‘hyperthermic’.

ü   Respiratory Status: Restriction of chest-wall expansion can result in respiratory distress, hypoventilation, and respiratory failure.

ü   Hydration Status: Dehydration from excess water loss can cause ‘tachycardia’ and poor urine output.

ü   Central Nervous System: Metabolic abnormalities can cause seizures. CNS depression can be a sign of sepsis or hypoxia. Hyperkeratosis may restrict spontaneous movements, making neurologic assessment difficult.