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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
- 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
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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