recessive X-linked ichthyosis
Last reviewed 01/2018
X linked ichthyosis is inherited as an X linked recessive with an incidence of 1 per 6000 males. It presents at birth or during infancy.
- affected individuals are deficient in the enzyme steroid sulphatase which is necessary for the metabolism of cholesterol for the production of keratin in the skin
- the condition is lifelong. It is most severe in cold weather and improves in the summer. It may worsen with age