Xeroderma pigmentosum

Also known as: De Sanctis–Cacchione syndrome (neurologic variant); XP

Extreme UV sensitivity with high skin cancer risk.

Medical specialty: Dermatology
Subspecialty: Dermatology / DNA repair disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, onset in infancy
Gene(s) involved: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

Etiology & mechanism

Defective nucleotide excision repair of UV DNA damage.

Gene(s) involved (9)

DDB2ERCC1ERCC2ERCC3ERCC4ERCC5POLHXPAXPC

Symptoms & signs (7)

corneal damagefrecklingneurologic declinephotophobiasensorineural deafnessskin cancerssunburn on minimal exposure

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.