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430 X-linked ichthyosis, an under diagnosed genetic skin disorder in children-case report
  1. Smitha Bhaskaran,
  2. Pramod Nair
  1. UK


Background X-Linked Ichthyosis is the second most common cause of ichthyosis in children.It is due to deficiency of steroid sulfatase(STS) either due to deletion or mutation of the STS gene at Chromosome Xp22.3.Considering this condition in severe cases of eczema is important in patient management and genetic counselling.

Methods We report a male infant born to non-consanguineous parents who had dry skin since birth.He was born at 40+1 weeks of gestation by emergency caesarean section due to variation in foetal heart rate.He had a stormy beginning to life, needing full resuscitation at birth and 6 days of ECMO for severe PPHN.He was noted to have dry scaly skin since which got worsened over time and was refractory to treatment.A genetic study was sent as part of the initial workup which later showed micro deletion at chromosome Xp22.31 commonly associated with STS deficiency.This result correlated with his clinical condition and a genetic referral was made for carrier state detection and counselling.

Conclusions X-linked recessive Ichthyosis is exclusively manifested in males and females are asymptomatic carriers.STS gene located at chromosome Xp 22.3 is defective either by deletion or point mutation resulting in deficiency of steroid sulfatase which normally keeps the skin moisturised.Deficient STS results in accumulation of cholesterol sulfate in stratum corneum of skin leading to ichthyosis.There can be associated corneal opacities and rarely cryptorchidism.The deficiency of enzyme can result in reduced production of maternal estriol during late pregnancy, which may affect induction of labour and delivery.We do not know whether his genetic condition had any contribution to is stormy neonatal period and need for ECMO.It would be a useful research if find similar associations in other children with X-linked Ichthyosis.However it is a very rare condition and should be considered in the differential diagnosis of dry skin not responding well to standard treatment.Genetic tests helps in making a diagnosis in the child and detection of carrier state in mother who is asymptomatic. This helps in counselling regarding the peripartum risks associated with future pregnancies and the recurrence risk for the offsprings.

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