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Journal ArticleOPEN ACCESS

Harlequin ichthyosis: A case report and literature review

  • Shrestha A
  • Biswas P
  • Shrestha S
  • et al.
Clinical Case Reports (2022) 10(12)
DOI: 10.1002/ccr3.6709
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Abstract

Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available.

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APA

Shrestha, A. B., Biswas, P., Shrestha, S., Riyaz, R., Nawaz, M. H., Shrestha, S., & Hossainy, L. (2022). Harlequin ichthyosis: A case report and literature review. Clinical Case Reports, 10(12). https://doi.org/10.1002/ccr3.6709

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