International Journal For Multidisciplinary Research

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Early Neonatal presentation of X-linked Ichthyosis – A case report

Author(s) Dr. Sankeerthana Kamani, Dr. Abhishek S Aradhya, Dr. Venugopal Reddy Iragamreddy
Country India
Abstract X-linked ichthyosis (XLI) is an inherited disorder of keratinisation caused by a deficiency of the enzyme steroid sulfatase (STS), leading to accumulation of cholesterol sulfate in the stratum corneum and resulting in retention hyperkeratosis. Affected males typically present in the neonatal period with dark brown, polygonal scales over the trunk, neck, and extensor surfaces, with relative sparing of flexures, face, palms, and soles. Extracutaneous manifestations such as cryptorchidism or corneal opacities may be seen, and larger STS deletions can be associated with neurodevelopmental features. We report a male neonate born at 28 weeks of gestation. The infant developed skin scaling in the second week of life, which gradually darkened and peeled, primarily over the forehead and upper limbs. Supportive care with emollients and moisturisers was initiated. Genetic testing confirmed STS deletion consistent with XLI. The baby was discharged on day 46 of life and remains under follow-up for monitoring associated issues. Management of XLI is mainly symptomatic, with emphasis on skin hydration, gentle exfoliation, and avoidance of irritants, along with genetic counselling. Emerging therapies such as enzyme replacement and gene therapy are under investigation. Early recognition and confirmation allow timely care, anticipation of complications, and reassurance for families.
Keywords Ichthyosis, X-linked Ichthyosis, Steroid sulfatase, Estriol
Field Medical / Pharmacy
Published In Volume 8, Issue 1, January-February 2026
Published On 2026-01-15
DOI https://doi.org/10.36948/ijfmr.2026.v08i01.66697
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