Harlequin Ichthyosis in a 4-year-old male: Case report
- Author:
Janice Natasha C Ng
1
;
Margaret Stephanie L Jimenez
1
;
Crystal R Lademora-Dinopol
1
;
Mary Kristine S Bunagan
1
,
2
;
Jennifer Aileen Ang-Tangtatco
1
,
3
,
4
,
5
Author Information
- Publication Type:Case Reports
- Keywords: Collodion membrane; Keratinization disorders; ABCA12 gene mutation; autoamputation
- MeSH: Ichthyosis, Lamellar
- From: Southern Philippines Medical Center Journal of Health Care Services 2018;4(1):1-8
- CountryPhilippines
- Language:English
- Abstract: Harlequin ichthyosis (HI) is a rare type of congenital keratinization disorder that, when left untreated, usually leads to early neonatal demise. A clinical diagnosis of HI is considered when a patient presents with thick plate-like scaling of the skin together with eclabium, ectropion, and nasal hypoplasia. The diagnosis can be confirmed by genetic testing to determine mutation in the adenosine triphosphate-binding cassette A12 (ABCA12) gene. Early administration of systemic retinoids to promote desquamation and emollients to control excessive scaling and dryness of the skin lead to better prognosis in most cases of HI. We present the case of a 4-year-old male with HI who has been successfully managed with bland emollients and systemic acitretin therapy, which we started when he was 1 year old.
- Full text:3 SPMC.pdf
