Autosomal Recessive Congenital Icthyosis with Cataract – A Case Report from Pakistan

Authors

  • Nida Fatima Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan 74200
  • Afreen Muhammad Arif Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan 74200
  • Sharmeen Nasir Pediatrics, Civil Hospital Karachi, Dow University of Health Sciences, Karachi, Pakistan 74200
  • Fariha Aslam Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan 74200

DOI:

https://doi.org/10.3329/jom.v24i2.67280

Keywords:

Icthyosis, Genetic diseases, Cataract, Genetic skin disease\

Abstract

The ichthyoses are a diverse group of disorders with variable clinical presentations. There are syndromic and non-syndromic forms with multiple associated features. The association of autosomal recessive congenital icthyosis (ARCI) with cataract is a rare phenomenon and no such case has been reported in recent literature. We hereby report the case of a 5-year-old female patient, a product of consanguineous marriage, who presented to the pediatric department of Dr. Ruth K.M Pfau Civil Hospital Karachi, Pakistan, with the complaint of rough skin with scaling and peeling over the entire body since birth due to congenital icthyosis. Shefurther developed complaints of reduced vision which later was diagnosed as cataract. Her previous two siblings had similar illness and they expired. Widespread scaling is the defining feature of ichthyosis specifically when it comes to ARCI it manifests at birth and can later progress to any spectra of illness. A multidisciplinary approach is required for the management of such patient.

J MEDICINE 2023; 24(2): 155-157

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Published

2023-07-02

How to Cite

Fatima, N. ., Arif, A. M. ., Nasir, S. ., & Aslam, F. . (2023). Autosomal Recessive Congenital Icthyosis with Cataract – A Case Report from Pakistan. Journal of Medicine, 24(2), 155–157. https://doi.org/10.3329/jom.v24i2.67280

Issue

Vol. 24 No. 2 (2023)

Section

Case Reports

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