Xeroderma pigmentosum B (Q92829): Difference between revisions

Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers. Some XPB patients present with classic XP features of varying severity (photosensitivity of skin with burning and freckling, skin and eye tumours) and mild neurological abnormalities, while others combine classical XP features with systemic and neurological manifestations of Cockayne syndrome such as short stature, bilateral sensorineural hearing loss and hyperreflexia (XP/CS complex).