Title: Harlequin Ichthyosis: Case Report of a rare disorder and Stigma attached to it
Author: Dr Manju Lata Sharma
DOI: https://dx.doi.org/10.18535/jmscr/v5i6.18
Abstract
Background: Disorders of cornification (ichthyoses) are a group of inherited disorders characterised clinically by extensive scaling andhistopathologically by hyperkeratosis. These disorders can cause considerable disfigurement in the newborn and may be associated with complications like electrolyte imbalance, sepsis, meningitis, dehydration and respiratory distress. Moreover these disorders may cause considerable psychological trauma to mother and other caregivers owing to the disfigurement of the affected newborn. In some communities there is considerable social stigma attached to it. The newborn babies having ichthyosis have mortality rates ranging between 10-40%. Harlequin ichythyosis (HI) is a severe form of congenital ichthyosis with an autosomal recessive pattern. The incidence is very rare and reported to be nearly 1 in 3,00,000 live births. HI classically presents with severe keratinised and alligator-like skin. HI has been linked to various genetic mutations most common of which is ABCA 12.
Case Report: A 7 day old female child was brought to our community centre in view of abnormal appearance of the skin and inability to take proper feeding since birth. Birth history revealed that the baby was full term (37 weeks), delivered vaginally at home 7 days back. Baby cried immediately after birth. Parents noticed abnormal appearance of the baby at birth but baby was not taken to any hospital. On day 7 of birth baby was brought to our community centre. On examination there were thick armor-like plates covering the whole body with intervening deep-red fissures causing oozing of blood from the fissures. Ectropion, eclabium, flattening of ears and nose were also noted. There was considerable disfigurement of facial features. bullous skin lesions were seen on major joints including knees, elbows and ankles. All natural orifices were patent. Other vital parameters were normal. Parents were counselled regarding need for NICU admission of the baby. But parents refused admission despite extensive counselling.
Conclusion: Harlequin Ichthyosis is the rarest form of ichthyosis. Despite awareness about this group of disorders there is considerable stigma attached to it. In some developing countries children with ichthyosis are called “snake children”. Concern about their social inclusion because of beliefs related to the clinical appearance may be the reason behind parents’ refusal to take medical assistance as was the case in our patient.
Keywords: Harlequin ichthyosis, Autosomal Recessive, ABCA 12, Social stigma.
