Harlequin ichthyosis: a case report of prolonged survival

Abstract

Harlequin ichthyosis (HI) is a rare type of congenital ichthyosis associated with poor survival. We report, with photographic record, a male baby born with HI. To the best of our knowledge, this is the first reported case of HI in Saudi Arabia, where the child has survived beyond 7 years. The baby was born at 37 weeks of gestation from consanguineous parents with no inherited skin disorder in the family. The mother was 28 years old with three normal previous pregnancies and healthy babies. At birth, the baby's skin had thick scales separated by deep fissuring. He was managed in intensive care with supportive treatment and frequent application of lubricants, emollients and urea cream. The skin gradually became softened, and began to shed after 6 weeks. After 8 months of inpatient management, he was discharged. He is currently 7 years old and is still being treated for non-bullous congenital ichthyosiform erythroderma.

Prenatal sonographic diagnosis of Harlequin ichthyosis

“…The main phenotypic features include dry scaly fish‐like skin, consisting of hyperkeratosis with deep erythematous fissures between thick yellowish armor‐like plaques involving the entire body surface, the eversion of the superior and inferior eyelids (ectropion) and both lips (eclabium or fish mouth appearance), the absence of eyelashes and eyebrows, sparse hair, abnormal flattened ears and broadened flat nose, microcephaly, abnormally fixed limbs and fingers, and toes in rigid flexion ( mitten‐like hands) due to the inability of the skin to expand . Even with intensive care (including treatment with Acretin), prognosis is poor and most neonates die shortly after delivery due to infection, heat loss, dehydration, electrolytic disturbances (eg, hypernatremia), or respiratory distress …”

“…3 Even with intensive care (including treatment with Acretin), prognosis is poor and most neonates die shortly after delivery due to infection, heat loss, dehydration, electrolytic disturbances (eg, hypernatremia), or respiratory distress. 6 There are few reports of prenatal diagnosis of Harlequin ichthyosis. Its suspicion based on ultrasound (US) examination is quite difficult.…”

Collodion newborn with dehydration fever: A rare case report

“…Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. It was previously considered to be associated with poor survival, but with good postnatal care, survival beyond 7 years of age has been reported [9]. Complications associated with increased risk of mortality are infection, fluid loss, dehydration, electrolyte imbalance, and body temperature instability [8].…”

Harlequin Ichthyosis: Case Report of a rare disorder and Stigma attached to it

“…Earlier these were called harlequin fetus because rarely these children would survive after birth. But with advanced neonatal care facilities there is an increase in survival of these children and the term harlequin fetus is nowadays replaced by Harlequin ichthyosis [9] . It is characterised by hard, dried skin forming diamond shaped plaques within which multiple fissures are found.…”