Laryngo-onycho-cutaneous syndrome

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Laryngo-onycho-cutaneous syndrome (pronunciation: la-ring-go-on-i-ko-ku-ta-ne-us sin-drome) is a rare genetic disorder that primarily affects the skin, nails, and larynx.

Etymology

The term "Laryngo-onycho-cutaneous syndrome" is derived from the Greek words "laryngo" meaning larynx, "onycho" meaning nail, and "cutaneous" referring to the skin. The syndrome is named for the primary areas of the body it affects.

Description

Laryngo-onycho-cutaneous syndrome is characterized by severe skin abnormalities, nail abnormalities, and changes in the larynx that can lead to voice changes or difficulty breathing. The skin abnormalities often include redness, scaling, and thickening of the skin, particularly on the palms of the hands and soles of the feet. Nail abnormalities can include thickening and discoloration of the nails. Changes in the larynx can include growths or narrowing of the larynx, which can lead to voice changes or difficulty breathing.

Causes

Laryngo-onycho-cutaneous syndrome is caused by mutations in the LOC syndrome 1 gene. This gene provides instructions for making a protein that is involved in the formation of the skin, nails, and larynx. Mutations in this gene disrupt the normal development of these tissues, leading to the signs and symptoms of Laryngo-onycho-cutaneous syndrome.

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