Netherton Syndrome

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

OMIM: 256500

Inheritance: autosomal recessive

Incidence: rare

Key findings:

Associated findings:

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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