A case report and literature review of self-improving collodion baby in the newborn

Abstract

Rationale: Self-improving collodion baby (SICB) is a rare subtype of autosomal recessive congenital ichthyosis with distinct clinical features and generally favorable prognosis. This study aims to enhance understanding of SICB by examining its clinical characteristics and recent developments in diagnosis and management. Our findings provide insights that may aid in the etiological diagnosis and treatment of congenital ichthyosis.

Patient concerns: We present a case of SICB treated at Peking University Shenzhen Hospital, characterized by the appearance of a collodion membrane at birth. The primary approach involved intensive moisturizing care to manage skin abnormalities.

Diagnoses: Based on clinical examination and genetic testing, a diagnosis of SICB was confirmed, with mutations identified in genes commonly associated with autosomal recessive congenital ichthyosis, such as ALOX12B, TGM1, ALOXE3, CYP4F22, and PNPLA1.

Outcomes: The patient showed significant improvement following targeted supportive care, consistent with the generally positive prognosis for SICB.

Lessons: A comprehensive literature review of 31 SICB cases from 18 studies highlighted that the condition typically presents at birth with a collodion membrane. Intensive moisturizing is the main treatment, and early genetic testing is recommended to facilitate timely diagnosis and intervention. Early diagnosis can support effective genetic counseling and improve outcomes for newborns with ichthyosis.

Keywords: autosomal recessive congenital ichthyosis; collodion baby; newborn; self-improving collodion ichthyosis; whole exome sequencing.

Figure 1.

Skin evolution from birth to 30 days in this case.

Figure 2.

Sanger sequencing chart.

Figure 3.

Flow chart for the selection of studies.