Xeroderma pigmentosum is a rare genetic disorder characterized by extreme sensitivity to sunlight, which can cause skin lesions and an increased risk of skin cancer. The spelling of this complex word can be challenging to decipher, but it can be broken down using IPA phonetic transcription. The "x" in "xeroderma" is pronounced as a "z" sound, while "derma" is pronounced "dur-ma." "Pigmentosum" is pronounced "pig-men-to-sum," with the "t" sound after "to" being pronounced as a "t" and not an "s."
Xeroderma pigmentosum is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight as well as other sources, causing a range of symptoms primarily affecting the skin and eyes. The condition arises from mutations in certain genes involved in DNA repair mechanisms, particularly those related to the nucleotide excision repair pathway.
Individuals with xeroderma pigmentosum have a diminished ability to repair DNA damage caused by UV radiation. As a result, they are prone to developing skin abnormalities, such as dryness, scaling, rough texture, and freckle-like pigmented spots, which can progress to more severe conditions like skin cancers. The eyes are also highly susceptible to UV damage, leading to symptoms like photophobia (sensitivity to light), irritations, and potentially severe vision impairments.
The disorder is typically evident in early childhood, with affected individuals often experiencing sunburns even after minimal sun exposure. The condition is hereditary, and its severity can vary depending on the specific mutations present. There is currently no cure for xeroderma pigmentosum, so management involves strict avoidance of UV radiation by limiting sunlight exposure and utilizing protective measures, such as wearing protective clothing, hats, sunglasses, and applying broad-spectrum sunscreen.
Living with xeroderma pigmentosum requires a lifelong commitment to sun protection and regular monitoring for potential skin malignancies. Genetic counseling is often recommended to assess the risk of passing on the disorder to future offspring and to provide support and guidance for affected individuals and their families.
Kaposi's disease, atrophodermia pigmentosa; a disease of the skin, occurring in childhood, characterized by numerous pigment spots, resembling freckles, larger atrophic lesions, resulting in glossy white thinning of the skin, surrounded by telangiectases, and multiple carcinomata and sarcomata; it often terminates fatally.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The word "xeroderma pigmentosum" has two parts in its etymology:
1. Xeroderma:
- "Xero-" comes from the Greek word "xeros", meaning "dry".
- "Derm-" comes from the Greek word "derma", meaning "skin".
2. Pigmentosum:
- "Pigmento-" comes from the Latin word "pigmentum", meaning "paint" or "color".
- "-Sum" is a suffix used in Latin to form adjectives from nouns.
Therefore, the literal translation of "xeroderma pigmentosum" is "dry skin pigment". This term refers to a rare genetic disorder characterized by extreme sensitivity to sunlight, resulting in dry, pigmented skin that is prone to damage and skin cancer.