X-linked ichthyosis

In the 1960s, recessive x-linked ichthyosis was distinguished clinically from other ichthyoses.

A major discovery in defining the basic biochemical defect in a skin disease, known as x-linked ichthyosis.

Of note, X-linked Ichthyosis is associated with Kallmann syndrome (close to KAL1 gene).

The Institute's investigators created the paramedic model for emergency care that is now a life-saving standard nationwide and identified the genetic basis for the skin disease, x-linked ichthyosis.

X-linked ichthyosis, a form of ichthyosis caused by a hereditary deficiency of the steroid sulfatase (STS) enzyme.

These abnormalities are now known to accompany X-linked ichthyosis ,steroid sulfatase deficiency, caused by steroid sulfatase gene mutations and are currently usually not included under the rubric of the corneal dystrophies.

Main differential diagnosis include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases, and several skin diseases (X-linked ichthyosis, keratosis follicularis spinolosa decalvans).

In pathologic desquamation, such as that seen in X-linked ichthyosis, the stratum corneum becomes thicker (hyperkeratosis), imparting a "dry" or scaly appearance to the skin, and instead of detaching as single cells, corneocytes are shed in clusters, forming visible scales.

Placental Steroid Sulfatase Deficiency; STS Steroid Sulfatase Deficiency Disease; SSDD Recessive X-linked Ichthyosis Steroid Sulfatase Deficiency None X-linked ichthyosis is a genetic skin disorder that affects males.