What is Schloraderma?

Schloraderma is a rare autosomal recessive skin disorder characterized by a combination of ichthyosis, acanthosis nigricans, palmoplantar keratoderma, and alopecia. It was first described in 1922 by the German dermatologist Julius Schlor.

Schloraderma is caused by mutations in the FAM83G gene, which encodes a protein that is involved in the formation of the skin barrier. The mutations in this gene lead to the formation of abnormal keratin filaments in the skin, which results in the development of the characteristic features of the disorder.

Schloraderma is typically inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene in order for the disorder to be expressed in their children. However, in some cases, the disorder can also be inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed for the disorder to be expressed.

The symptoms of Schloraderma typically appear in infancy or early childhood. The most common symptoms include:

* Ichthyosis: This is the term used to describe dry, scaly skin. In the case of Schloraderma, the ichthyosis is usually severe and widespread, affecting the entire body.

* Acanthosis nigricans: This is a condition that is characterized by areas of dark, velvety skin. In the case of Schloraderma, the acanthosis nigricans typically affects the neck, armpits, and groin.

* Palmoplantar keratoderma: This is a condition that is characterized by thickening of the skin on the palms of the hands and soles of the feet. In the case of Schloraderma, the palmoplantar keratoderma is usually severe and can lead to pain and difficulty walking.

* Alopecia: This is the term used to describe hair loss. In the case of Schloraderma, the alopecia is usually complete and affects the entire scalp.

There is no cure for Schloraderma, but there are a number of treatments that can help to improve the symptoms. These treatments include:

* Moisturizers: These can help to hydrate the skin and reduce itching.

* Keratolytics: These can help to soften and remove the thick, scaly skin.

* Retinoids: These are medications that can help to normalize the growth and differentiation of the skin cells.

* Phototherapy: This is a type of treatment that uses ultraviolet light to help improve the skin's appearance.

In some cases, surgery may be necessary to remove the thick, scaly skin from the palms of the hands and soles of the feet.