Other names: Comel-Netherton syndrome, ichthyosis linearis circumflexa; ILC

OMIM: 256500

Inheritance: autosomal recessive

Incidence: rare

Key findings:

  • skin: generally red; characteristic serpiginous, double-edged, migratory scale or peeling (ILC); mild epidermal thickening or ridging often seen at flexures; itching is common; not all individuals with ILC have associated findings; some individuals may not have ILC
  • hair: trichorrhexis invaginata leading to fragile, short hair

Associated findings:

  • immunologic: elevated serum IgE clinical features of atopic dermatitis in 1/3; may have increased incidence of hives and other allergic problems such as anaphylactic reactions to foods
  • nutrition: short stature and failure to thrive in some

Age at first appearance: usually at birth

Long-term course: may be erythrodermic at birth; lifelong involvement with fluctuation in severity; extent of erythema and hair fragility may improve with age; increased risk for bacterial and fungal infections of skin; normal longevity ;

Diagnostic tests: analysis of cellular DNA is definitive, hair analysis can aid in clinical diagnosis

Abnormal gene: serine protease inhibitor, SPINK5

Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

To learn more about Netherton syndrome, follow this link.

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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