Which deficiency leads to X-linked hyperkeratosis of the skin?

Which deficiency leads to X-linked hyperkeratosis of the skin?

• A. Neuraminidase
• B. Beta-galactosidase
• C. Steroid sulfatase
• D. Alpha-iduronidase

Answer: (C)

X-linked hyperkeratosis of the skin is associated with a deficiency in steroid sulfatase. This enzyme is crucial for the metabolism of steroid hormones and for the degradation of sulfate esters in various compounds. The deficiency leads to the build-up of specific metabolites, which can manifest in symptoms such as hyperkeratosis, characterized by thickened and scaly skin. Individuals with this condition may also experience other skin-related issues, including eczema and ichthyosis, due to the impaired ability to properly metabolize steroids and sulfated compounds. This condition exemplifies how enzymatic deficiencies can lead to a range of dermatological manifestations, underlining the importance of steroid sulfatase in maintaining healthy skin.

X-linked hyperkeratosis of the skin is associated with a deficiency in steroid sulfatase. This enzyme is crucial for the metabolism of steroid hormones and for the degradation of sulfate esters in various compounds. The deficiency leads to the build-up of specific metabolites, which can manifest in symptoms such as hyperkeratosis, characterized by thickened and scaly skin.

Individuals with this condition may also experience other skin-related issues, including eczema and ichthyosis, due to the impaired ability to properly metabolize steroids and sulfated compounds. This condition exemplifies how enzymatic deficiencies can lead to a range of dermatological manifestations, underlining the importance of steroid sulfatase in maintaining healthy skin.