Lamellar ichthyosis in a female neonate without a collodion membrane.

Abstract

The term, autosomal recessive congenital ichthyosis (ARCI), describes a group of rare genetic skin diseases of cornification involving hyperkeratotic scaling at birth. The defective skin barrier function may lead to dehydration, body temperature instability, and high susceptibility to infections. In most cases of ARCI, neonates are born with a collodion membrane covering the body, often presenting with ectropion and eclabium. We report a premature female neonate presenting with hyperkeratotic scaling at birth without a collodion membrane. She was managed with placement in a humidified isolette, prophylactic antibiotics, dilute bleach baths, petrolatum ointment, and artificial eye drops. By the fourth week of life, there was marked improvement in her skin with the large, brown, plate-like scales on the trunk and extremities becoming lighter in color and finer in appearance. The ichthyosis genetic panel showed mutations in the ABCA12 gene resulting in the lamellar ichthyosis phenotype of ARCI. Our literature review revealed at least 28 patients with ARCI who were not born as collodion babies. Although collodion babies are a hallmark of most ARCI cases, clinicians should be aware of neonates with ARCI born without a collodion membrane and expedite appropriate workup and treatment.

• Authors: Kevin Chao, Maria Aleshin, Zachary Goldstein, Scott Worswick, Marcia Hogeling
• Journal: Dermatology online journal (Dermatol Online J) Vol. 24 Issue 2 (Feb 15 2018) ISSN: 1087-2108 [Electronic] United States
• PMID: 29630152 (Publication Type: Case Reports, Journal Article)

Chemical References

• ABCA12 protein, human
• ATP-Binding Cassette Transporters

Topics

• ATP-Binding Cassette Transporters (genetics)
• Diagnosis, Differential
• Female
• Humans
• Ichthyosis, Lamellar (diagnosis, genetics, pathology)
• Infant, Newborn
• Mutation
• Phenotype
• Skin (pathology)