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Ichthyosis in the Neonatal Setting
1All Children's Hospital and School of Nursing, Regis University, Denver, Colorado.
Insights
This article details common neonatal ichthyosis forms, including X-linked recessive, lamellar, and bullous congenital ichthyosiform erythroderma. It covers genetic causes, phenotypes, and lifelong management strategies for these rare skin disorders.
Area of Science:
- Neonatal dermatology
- Medical genetics
- Pediatric care
Background:
- Ichthyosis encompasses rare, inherited scaly skin disorders present at birth.
- Neonatal ichthyosis presents a spectrum of severity, posing significant clinical challenges.
Purpose of the Study:
- To explore the three most common nonsyndromic neonatal ichthyosis forms: X-linked recessive, lamellar, and bullous congenital ichthyosiform erythroderma.
- To highlight harlequin ichthyosis, a severe lamellar subtype, due to its clinical severity and high mortality rate.
Main Methods:
- Review of genetic mutations responsible for ichthyosis subtypes.
- Analysis of phenotypes and natural history of neonatal ichthyosis.
- Examination of lifelong patient management strategies.
Main Results:
- Detailed descriptions of X-linked recessive, lamellar, and bullous congenital ichthyosiform erythroderma, including incidence.
- Explanation of underlying genetic mutations for each type.
- Overview of expected patient management throughout their lives.
Conclusions:
- Essential care considerations for neonatal nurse practitioners managing ichthyosis patients.
- Recommendations for clinical care, genetic counseling, and recurrence risks.
- Emphasis on the need for further research to optimize care for these rare conditions.
Background:
There exists a group of rare, inherited scaly skin disorders, generally termed ichthyosis, that can be evident in the infant at the time of birth. Phenotypes for this disorder span the gamut of severity and may pose complex challenges to the healthcare provider.
Purpose:
This article explores the 3 most common nonsyndromic forms of ichthyosis seen in neonates as follows: X-linked recessive, lamellar, and bullous congenital ichthyosiform erythroderma. Moreover, harlequin ichthyosis, a lamellar subtype, is highlighted for being the most severe, clinically problematic, and often lethal form of the disorder.
Findings/Results:
A description of each of these types and their incidence is included, followed by an explanation of the genetic mutations causing them. The phenotypes and natural history are reviewed, as is expected management of the disorder throughout the patient's lifetime.
Implications For Practice:
Considerations for the neonatal nurse practitioner charged with caring for these patients, including specific recommendations for care in the clinical setting, are discussed. Additionally, genetic counseling and the risks of reoccurrence are explored.
Implications For Research:
Given the rare nature of this disorder, further research is warranted so that healthcare providers are prepared to provide optimal care to these fragile patients.
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