Xeroderma Pigmentosum
Pronunciation: zeer-oh-DER-mah pig-MEN-toh-sum
A rare autosomal recessive disorder characterised by extreme UV sensitivity and a markedly elevated risk of skin malignancy due to defective nucleotide excision repair.
Full Definition
Xeroderma pigmentosum (XP) is a genodermatosis caused by mutations in genes encoding nucleotide excision repair proteins, rendering affected individuals unable to correct UV-induced DNA damage. Clinically it manifests with early-onset freckling, progressive photodamage, and a dramatically increased incidence of cutaneous carcinomas and melanoma. Editors working on genetics or paediatric dermatology manuscripts must render this as two words with correct capitalisation of 'Pigmentosum'. The approved abbreviation is XP. It is distinct from, and should never be conflated with, simple xeroderma (dry skin).
Usage
Usage note: Always expand on first use; abbreviate thereafter as XP. Two-word term — do not hyphenate.
In Context
- "The manuscript incorrectly abbreviated xeroderma pigmentosum as 'xerosis'; the editor corrected it to XP." — Peer-reviewed journal manuscript
- "Children diagnosed with xeroderma pigmentosum require lifelong photoprotection." — Paediatric dermatology referral letter