Xeroderma pigmentosum B (Q92829): Difference between revisions

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Latest revision as of 07:57, 16 August 2026

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).

Language	Label	Description	Also known as
default for all languages	ID_1064918621
English	Xeroderma pigmentosum B	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).