Xeroderma pigmentosum B (Q92829): Difference between revisions
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Xeroderma pigmentoso do grupo de complementação B (XPB) é um subtipo extremamente raro de xeroderma pigmentoso (XP), uma fotodermatose rara que predispõe ao câncer de pele. Alguns pacientes com XPB apresentam manifestações clássicas de XP de gravidade variável (fotossensibilidade da pele com queimação e sardas, tumores de pele e olhos) e anormalidades neurológicas leves, enquanto outros combinam manifestações clássicas de XP com manifestações sistêmicas e neurológicas da síndrome de Cockayne, como baixa estatura, perda auditiva neurossensorial bilateral e hiperreflexia (complexo XP/CS). | |||
| description / en | description / en | ||
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). | |||
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 |
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| 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). |
