A case report of fatal harlequin ichthyosis: Insights into infectious and respiratory complications
| Autor: | Kruti Parikh, Jaimie B. Glick, Sharon A. Glick, Kanwaljit Brar, Alexandra Flamm |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Case Report Dermatology Lamellar granule Acitretin Desquamation Sepsis 03 medical and health sciences 0302 clinical medicine Congenital ichthyosis medicine ABCA12 harlequin ichthyosis NICU neonatal intensive care unit biology business.industry Harlequin Ichthyosis medicine.disease ABCA12 adenosine triphosphate binding cassette A12 HI harlequin ichthyosis 030104 developmental biology Pseudomonas aeurginosa Respiratory failure retinoid 030220 oncology & carcinogenesis Immunology biology.protein medicine.symptom business medicine.drug |
| Zdroj: | JAAD Case Reports |
| ISSN: | 2352-5126 |
| DOI: | 10.1016/j.jdcr.2016.06.011 |
| Popis: | Harlequin ichthyosis (HI) is a rare autosomal recessive congenital ichthyosis associated with mutations in the keratinocyte lipid transporter adenosine triphosphate binding cassette A12 (ABCA12),1 leading to disruption in lipid and protease transport into lamellar granules in the granular layer of the epidermis. Subsequent defective desquamation with compensatory hyperkeratinization follows.2 Historically, there has been a high early mortality rate in infants with HI; however, improved neonatal management and the early introduction of systemic retinoids may contribute to improved prognosis. Death in these patients is most commonly caused by sepsis, respiratory failure, or electrolyte imbalances. We report a case of a neonate with HI treated in the first few days of life with acitretin. The patient initially improved but eventually died of pseudomonas sepsis at 6 weeks of age. |
| Databáze: | OpenAIRE |
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