Case report of self-improving collodion ichthyosis in the newborn

Abstract

Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth. A newborn girl, just 1 hour old, presented with taut, shiny, thick yellow crusts, like parchment, and scales on her trunk and upper limbs. The tightening effect had caused both upper eyelids to appear everted, and her lips and auricles were deformed. Based on whole-exome sequencing and examination of the clinical phenotype, the patient was diagnosed with ARCI. After admission, the exposed mucosa was covered with a sterile Vaseline gauze dressing, and she was placed in an incubator set to a temperature of 32°C with a humidity level of 75%. One week later, the parchment-like scales had begun to flake off, and at the age of 3 weeks, all bodily skin appeared normal. SICI was diagnosed. After discharge, the patient was followed up to 3 months of age, at which time her growth and development were comparable to those of her peers. Clinicians should consider SICI as a possible diagnosis when analyzing the prognosis of patients with CB. Reducing water loss and maintaining the electrolyte balance are particularly important for SICI treatment.

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

“…Consistently, our ALOX12B-positive patients showed CIE phenotypes of mild/moderate severity. One child patient (ID.01 in Table 1), who evolved as SICI, was compound heterozygous for two known variants previously associated with classic CIE or SICI [17,38,39]. Another child was heterozygous for the novel c.1907G>T (p.Ser636Ile) change and the known c.1192C>T (p.His398Tyr) variant in ALOX12B and also carried a novel heterozygous rare variant of uncertain significance (Class 3) c.1033G>A p.(Asp345Asn) in TGM1 (ID.02 in Table 1).…”