Literature DB >> 32847877

Harlequin ichthyosis from birth to 12 years.

Jemima Heap1, Mary Judge2, Beena Padmakumar3.   

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. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  dermatology; paediatrics

Mesh:

Year:  2020        PMID: 32847877      PMCID: PMC7451270          DOI: 10.1136/bcr-2020-235225

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  2 in total

1.  Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.

Authors:  Benny Kai Guo Loo; Melissa Jeanne Batilando; Ene Choo Tan; Mark Jean Aan Koh
Journal:  BMJ Case Rep       Date:  2018-01-03

2.  Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.

Authors:  Ken Washio; Mayuko Sumi; Kaori Nakata; Atsushi Fukunaga; Keiji Yamana; Tsubasa Koda; Ichiro Morioka; Chikako Nishigori; Kiyofumi Yamanishi
Journal:  J Dermatol       Date:  2017-03-11       Impact factor: 4.005

  2 in total

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