Netherton Syndrome

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
  • 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

Abnormal gene: serine protease inhibitor, SPINK5


 


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