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

More general terms

• ichthyosis; erythrokeratodermia variabilis

Additional terms

• arylsulfatase-C (steryl-3-sulfatase, steroid sulfatase, ASC, STS ARSC1)

Database

• OMIM: https://mirror.omim.org/entry/308100