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  • hereditary
  • For instance, Refsum disease and Sjögren-Larsson syndrome (hereditary intellectual disability and spastic paralysis caused by a defect in fatty aldehyde dehydrogenase) are autosomal recessive conditions with skin and extracutaneous organ involvement. (merckmanuals.com)
  • barrier
  • In any ichthyosis, there is impaired epidermal barrier function, and moisturizers should be applied immediately after bathing. (merckmanuals.com)
  • ABCA12 is thought to be a lipid transporter in keratinocytes necessary for lipid transport into lamellar granules during the formation of the lipid barrier. (wikipedia.org)
  • scaly
  • Derived from two Greek words meaning "fish" and "disease," ichthyosis is a congenital (meaning present at birth) dermatological (skin) disease that is represented by thick, scaly skin. (encyclopedia.com)
  • erythema
  • Those patients had generalized ichthyosis with erythema, fine whitish scaling on the face and trunk, and larger brownish scaling on the neck, buttocks and legs. (cags.org.ae)
  • deficiency
  • Previous studies have shown a deficiency of steroid sulfatase (STS) in skin fibroblasts and a marked elevation of plasma cholesterol sulfate in patients with X-linked ichthyosis. (medscape.com)
  • disorders
  • Ichthyosis may be an early manifestation of some systemic disorders (eg, leprosy [Hansen disease], hypothyroidism , lymphoma , AIDS ). (merckmanuals.com)
  • The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures. (diseaseinfosearch.org)
  • Types
  • Families for study will be ascertained through articles in the Ichthyosis Focus, (the newsletter of the Foundation for Ichthyosis and Related Skin Types), physician referrals, and patient self-referrals. (clinicaltrials.gov)