Ichthyosis linearis circumflexa

From WikiMD.org
Jump to navigation Jump to search

Ichthyosis Linearis Circumflexa

Ichthyosis linearis circumflexa (pronounced ik-thee-OH-sis lin-ee-AIR-is sur-kum-FLEK-sa) is a rare form of Ichthyosis, a group of genetic skin disorders characterized by dry, thickened, scaly skin.

Etymology

The term "Ichthyosis" is derived from the Greek word "ichthys," which means fish, referring to the scaly appearance of the skin. "Linearis circumflexa" refers to the distinctive pattern of the skin lesions, which are often linear and whorled.

Symptoms

The primary symptom of Ichthyosis linearis circumflexa is the presence of polycyclic, erythematous plaques with a double-edged scale along the margins. These plaques often appear in a whorled or linear pattern. Other symptoms may include Alopecia (hair loss), Hyperkeratosis (thickening of the skin), and Erythroderma (redness and inflammation of the skin).

Causes

Ichthyosis linearis circumflexa is caused by mutations in the NIPAL4 gene, which is responsible for the production of a protein called ichthyin. This protein plays a crucial role in the normal development of the skin. Mutations in the NIPAL4 gene disrupt the normal development of the skin, leading to the symptoms of Ichthyosis linearis circumflexa.

Treatment

Treatment for Ichthyosis linearis circumflexa primarily involves managing the symptoms. This may include the use of emollients and keratolytic agents to soften and remove the scales. In severe cases, systemic retinoids may be used.

Related Terms

External links

Esculaap.svg

This WikiMD article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski