Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation

Abstract

A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids. The individual's appearance improved dramatically during hospitalization and at discharge resembled congenital ichthyosiform erythroderma.

Newborn with Harlequin Ichthyosis and the Nursing Care

“…As they have not visited thereafter, it is possible to say that the baby has been left by his parents. Unlike the case reported by Koocheck et al 15 , the family did not accept the baby in this case.…”

“…Thereafter, an orogastric tube was inserted for feeding. 15 Aseptic principals were followed for every intervention and care process. Despite the aseptic measures and isolation, the newborn developed hyperthermia on the 5 th day of hospitalization.…”

Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novelABCA12mutations

“…Resolution of digital ischaemia by relaxation incision was reported in one HI case. 6 Relaxation incision is thought to be a conceivable therapy for digital ischaemia. Even the incision of a superficial, thick stratum corneum may be effective for treatment of digital necrosis in HI cases.…”

Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan

“…In March 2014, a comprehensive review of the literature was performed to identify all known ABCA12 mutations described in patients with HI, CIE and LI (online database: http://www.med.nagoya-u.ac.jp/derma/ABCA12/ and Pubmed) . To date, 81 ABCA12 mutations have been reported in 89 ARCI families consisting of 61 HI, 10 LI and 18 CIE families.…”