Management of collodion baby with ABCA12 gene mutation and harlequin ichthyosis

Shih-Ching Lo；Hsing-Chun Lin；Xing-An Wang

Harlequin Ichthyosis ； adenosine triphosphate binding cassette A12 ； autosomal recessive congenital ichthyosis ； Dermatology ； Pediatrics

中山醫學雜誌

35卷1期（2024 / 06 / 01）

43 - 47

英文

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis. Lamellar ichthyosis is more common in Taiwan with an incidence rate of 1/300,000~500,000. The transglutaminase 1 (TGM1) gene mutation is associated with cornification disorders, while the mutation of the lipid transporter adenosine triphosphate binding cassette A12 (ABCA12) gene is associated with a higher mortality rate. We present a case of collodion baby (CB) with autosomal recessive congenital ichthyosis (ARCI), harlequin ichthyosis (HI) type. This case report draws attention to the problems encountered during the management of infants with HI. Following holistic health care, he was healthy and discharged with rehabilitation carried out in outpatient clinic. Symptoms of HI vary from person to person. This patient presented with congenital ichthyosiform erythroderma, ectropion, and depressed nasal ridge with normal hearing. More case reports that detail the management of HI may help to improve medical treatment and outcomes.