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CASE REPORT
Recognition and management of congenital ichthyosis in a low-income setting
  1. Anja Saso1,2,
  2. Benjamin Dowsing2,
  3. Karen Forrest3 and
  4. Mary Glover4
  1. 1 Academic Paediatrics, Imperial College London, London, UK
  2. 2 Vaccines and Immunity Theme, MRC Unit The Gambia at London School of Hygiene and Tropical Medicine, Banjul, The Gambia
  3. 3 Clinical Services Department, MRC Unit The Gambia at London School of Hygiene and Tropical Medicine, Banjul, The Gambia
  4. 4 Paediatric Dermatology, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK
  1. Correspondence to Dr Anja Saso, asaso{at}mrc.gm

Abstract

We report the case of a 3-week old girl in The Gambia who presented to hospital with an undiagnosed skin disorder evolving since birth. Using telemedicine to seek specialist dermatology advice abroad, she was diagnosed with and managed for suspected congenital lamellar ichthyosis. Poor early recognition and limited resources, for both acute and chronic care, created significant challenges to optimal management; these were overcome, in part, by adopting a common sense, back-to-basics approach to treatment and by empowering the parents to take ownership of their infant’s daily skin and eye care. This case highlights key global health issues associated with managing chronic, often debilitating, paediatric dermatological conditions in a low-income setting; namely, poor access to important diagnostic tools and medications, lack of experience and expertise in the management of severe skin disease and its associated complications, absence of long-term community support, alternative health beliefs and risk of sociocultural stigma.

  • dermatology
  • paediatrics
  • congenital disorders
  • global health
  • ophthalmology

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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Footnotes

  • KF and MG are the joint senior authors.

  • Contributors AS and BD clinically managed the case, with KF and MG providing expert senior advice. AS collected the photos, performed a literature review and drafted the article. BD, KF and MG contributed to data interpretation and revised the report critically. All authors read and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.

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