Harlequin ichthyosis from birth to 12 years.

Abstract

A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly. Oral acitretin was initiated on day 3 of life, complemented by an intensive skin care regimen. Rehydration, prevention and treatment of infection, temperature control and nutritional support were all essential to see him through the neonatal period. Nearly 12 years later, this child continues to receive multidisciplinary input and enjoys a good quality of life.

• Authors: Jemima Heap, Mary Judge, Beena Padmakumar
• Journal: BMJ case reports (BMJ Case Rep) Vol. 13 Issue 8 (Aug 26 2020) ISSN: 1757-790X [Electronic] England
• PMID: 32847877 (Publication Type: Case Reports, Journal Article)
• Copyright: © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Topics

• Child
• Follow-Up Studies
• Humans
• Ichthyosis, Lamellar (pathology, therapy)
• Infant, Newborn
• Male