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X-linked ichthyosis
Epidemiology:
- affects approximately 1 of 2000-6000 males
Pathology:
- diskeratinization disorder
Genetics:
- associated with defects in arylsulfatase C
Clinical manifestations:
- presence of prominent scales, especially on the neck, extremities, trunk, & buttocks
Related
arylsulfatase-C (steryl-3-sulfatase, steroid sulfatase, ASC, STS ARSC1)
General
ichthyosis; erythrokeratodermia variabilis
Properties
DEFICIENCY: aryl sulfatase-C
Database Correlations
OMIM 308100
References
OMIM :accession 308100